Liver Transplantation for Wilson Disease
Wilson disease (WD) requires lifelong treatment and can be successfully managed with medication therapy and a low-copper diet in most patients. While WD is a very treatable condition, in about 5-10% of patients with WD liver transplantation is needed. These include patients in whom the disease is diagnosed after there's been significant liver damage that cannot respond to medication alone, including some who may have previously had treatable disease but stopped taking their medication and those presenting with acute liver failure due to WD. Although highly unusual, unexplained liver failure can occur in patients even when they've been faithfully taking their medication, often due to the presence of concurrent liver diseases.
When the liver can no longer function adequately, the damaged organ can be surgically removed and replaced with a healthy liver or part of a liver from a donor. In liver transplantation, the new organ may come from a deceased donor or a living donor.
Liver transplantation is a lifesaving treatment option for those WD patients with chronic or sudden liver failure,. There are about 6,000 liver transplants a year in the United States. There have been 570 adults and children with WD who received liver transplants between 1987 and 2008. With transplantation the disease is actually eliminated since the inherited metabolic defect causing WD is in the liver cells of the damaged liver. However, patients who undergo organ transplantation must take multiple medications to prevent rejection of their new organ for the rest of their lives.
2. When Liver Transplant is Needed
Treatment for Wilson Disease
Wilson disease (WD) is a highly treatable condition when identified in a timely fashion when there is adequate liver function, and as long as patients faithfully take appropriate medications for life. Treatment works by reducing or eliminating the accumulation of dietary copper or preventing reaccumulation of copper in your body. Copper chelating drugs that include penicillamine and trientine may be prescribed. Therapy with Zinc salts that blockscopper absorption are another option for treatment, but are approved mainly for maintenance therapy or for treating asymptomatic patients. Eating a low-copper diet by limiting or avoiding foods such as chocolate, nuts, shellfish, organ meats, and mushrooms and by attention to copper content in the water is also recommended.
Why Treatment May Not Work
In other cases, WD patients may not respond to any therapeutic options. Some patients, at their time of diagnosis may have advanced liver failure that can't be treated with medication. In rare instances, WD patients who have faithfully taken their medications may experience unexplained liver failure, often due to other causes of liver injury independent of their WD.
While therapy for WD is very effective in halting progression of the disease and sometimes even reversing symptoms, some patients may become non-adherent to their medications and diet. Non-adherence means stopping medication use or not taking it regularly as directed. Studies of various diseases show rates of non-compliance to medication regimens can range from 20-50%. People with WD who never experienced disease symptoms due to early diagnosis or those experiencing side effects from the medications may be more at risk of falling into this category. It's extremely important for those with WD to follow their doctor's treatment recommendations and have regular monitoring of their treatment for life!
In these circumstances, liver transplantation may be the only remaining treatment option.
Signs a Transplant May Be Needed
WD patients with stable liver disease should still undergo routine check-ups and laboratory testing twice a year, and those with abnormal testing more frequently. Blood is drawn and evaluated in a lab to determine how the liver is functioning, and 24 hour urine studies are obtained along with other testing for copper to determine if the treatments are effective. Doctors also check for clinical signs of liver disease and neurological functioning. If either appears abnormal, further tests may be ordered and monitoring becomes more frequent.
When the liver isn't working right, patients will see physical signs that can't be ignored. Jaundice is typically the first or main symptom: the skin will turn pale yellow or orange and the whites of the eyes will also look yellow. In some, there is fluid accumulation and edema (swelling) of the lower extremities and abdominal distension due to ascites can occur. Other symptoms indicating liver failure include:
- Loss of appetite and weight loss
- Tenderness in upper right side of abdomen
- Nausea, vomiting, diarrhea, light-colored stools, darkening color of urine
- Poor blood clotting
- Confusion, irritability, and mood changes
- GI bleeding
When to See Your Doctor
If you or a family member notices any of the above physical or emotional changes, it's important to see your doctor immediately! Liver failure can advance quickly so symptoms should not be ignored. If laboratory and other diagnostic tests determine the liver is severely damaged and is unlikely to regenerate or heal itself, patients should undergo an evaluation for liver transplantation at a transplant center, and a liver transplant may be recommended.
When to Have a Transplant Evaluation
Your doctor will let you know if it's time to have an evaluation for a liver transplant. The first step is identifying a medical center with a liver transplant program that's close to your home, if possible. Since there are a limited number of organs that are available for transplantation, there is a limited number of centers with medical teams skilled and approved to perform liver transplants. The choice of a center with the capability to perform living donor liver transplant should also be considered as this will help increase the odds of obtaining a timely organ if potential donors are available. Family members who are carriers for WD may also be suitable donors and should not be excluded from consideration on the basis of being a carrier alone.
A transplant evaluation takes several days and may involve being admitted to the hospital. If a child is being evaluated, a parent or guardian should be present during the hospital stay. The evaluatioon involves a number of medical tests including blood tests, heart tests, possible liver biopsy, ultrasound or CT and MRI scans, lung, and kidney function tests.
The evaluation is performed by a variety of specialists on the transplant team. The transplant team includes hepatologists, transplant surgeons, transplant coordinators, nurses, social workers, psychologists and other specialists who may be called in for specialized care. A transplant is a major operation and maintaining the organ in the recipient requires long-term care and follow-up so the transplant team needs to be assured that the patient has appropriate family and emotional support.
3. Transplantation in Adults
The liver is the largest and most complex organ you have in your body. It weighs about three pounds in adults and performs lifesaving functions ranging from the processing of carbohydrates, fats, proteins, and nutrients absorbed from food to making the factors needed to help your blood clot. It breaks down toxic substances in your blood such as drugs and alcohol and is responsible for metabolizing medications. Your liver is an essential organ that you cannot live without!
Causes of Liver Failure in Adults With WD
The majority of liver transplants performed in people with WD have been adults. According to the United Network for Organ Sharing (UNOS), 400 adults with WD received new livers between 1987 and 2008. Most of these transplants were done in patients between the ages of 19 and 29.
Fulminant Hepatic Failure:
The reason for the majority of young adult liver transplants was due to fulminant hepatic failure (FHF) also known as acute liver failure. It's the rapid deterioration of liver function. The word "hepatic" of course refers to your liver and the word "fulminant" means suddenly, like lightning. FHF also leads "encephalopathy." This is a condition in which the brain doesn't work properly because toxic substances start building up due to the liver no longer breaking them down so the body can get rid of them. In addition, there can be life-threatening brain swelling which can cause irreversible brain damage if it progresses. Therefore transplantation is considered emergent, and these patients are accorded the highest status on the waiting list for liver transplantation.
These are some of the signs and symptoms of FHF:
- Ascites (uh-sigh-tees), or swelling of the abdomen when too much fluid builds up inside
- Edema (uh-dee-ma), or swelling of the legs and feet
- Dark, tea-colored urine and light-colored stools
- Loss of appetite
- Jaundice, or yellow skin and eyes
- Itchy skin
- Strong feelings of irritation or confusion
FHF happens when your liver cells are injured and die. Scarring, or fibrosis, then replaces your healthy liver cells and continues until there are not enough healthy liver cells to do their job. It's important for you to know the symptoms of FHF since it can develop within a matter of days or weeks.
It is rare for FHF to be corrected with medical treatment and a transplant is life-saving for these patients..
Chronic Liver Disease:
Between the ages of 30 and 69, liver transplantation is less common in adults with WD and when it occurs the cause is fairly evenly split between FHF or a condition known as chronic liver disease (CLD) – this is, a gradual destruction of liver tissue over time. CLD can be characterized as "cirrhosis" which is when scar tissue slowly takes over normal functioning liver tissue and blocks normal blood flow through the organ. There can also be an overgrowth of scar tissue known as "fibrosis" which is a condition that can take place in almost any organ in your body.
These are some of the signs and symptoms of CLD:
Fluid buildup in the abdomen (ascites) and legs (edema)
- Red palms
- Small red spots and tiny spider-like lines on skin
- Kidney failure
- Severe nosebleeds and bleeding in the digestive tract
- Frequent infections
When a WD patient experiences FHF or advanced CLD a potentially lifesaving liver transplant may be the only treatment option.
Transplant Success Rates
There have been a number of scientific studies looking at how liver transplantation works in adults with WD and they are very encouraging! The largest study that followed 400 WD adults who were transplanted over a 20-year period found that almost 90% were still alive after one year; and more than 85% were still alive five years after getting their new livers. About an even number of men and women had transplants.
Studies show that in WD patients who had failing kidneys before transplantation they were able to have their kidney function restored without the need for ongoing dialysis or a second organ transplant. There's also evidence those WD patients with neurologic problems before transplant experienced improvement.
Liver transplantation cures Wilson disease and gives patients normal copper metabolism. However, anyone who receives a new liver must take medications to prevent organ rejection for life. These immune suppressing drugs can cause side effects and other long-term complications. Sadly, there is a shortage of donor organs and not nearly enough livers become available for the hundreds of people who need them each year.
4. Transplantation in Children
Causes of Liver Failure in Children
Just like in adults, there are reasons why children with WD may need a liver transplant though it's less common. According to the United Network for Organ Sharing (UNOS) there were 170 liver transplants done in children with WD between 1987 and 2008. Most of them were between the ages of 10 and 18 and 70-percent were female.
The largest study done looking at why children with WD need a liver transplant shows sudden liver failure – known as "fulminant hepatic failure" (FHF) – is by far the most common cause. It's also known as acute liver failure and is the rapid deterioration of liver function. The word "hepatic" of course refers to your liver and the word "fulminant" means suddenly, like lighting. Very few children with WD needing a transplant have liver failure that develops gradually over time, which is known as "chronic liver disease" (CLD).
Symptoms of Liver Failure in Children
It may be challenging for a parent to recognize acute, or sudden liver failure in their child since the early signs can mimic other illnesses. It can look like a virus -- an upset stomach (nausea and vomiting) or feeling tired all the time (fatigue). If liver failure is the cause, then jaundice – or yellowing of the skin and eyes – will quickly develop.
Another sign for parents to look for is encephalopathy since it almost always occurs in children with liver failure, however it may be subtle in its presentation. Encephalopathy is a condition in which the brain doesn't work properly because toxic substances start building up due to the liver no longer breaking them down so the body can get rid of them. Very young children may be irritable and cry and sleep a lot. Older children may seem angry, confused, and forgetful and may have trouble falling asleep but be drowsy during the day.
Other physical signs include vomiting blood or bloody stools. Bleeding in the GI tract can be a consequence of sudden liver failure. Abdominal pain or swelling can also occur.
Again, while CLD is uncommon in children with WD these are signs that should put a parent on alert:
- Itchy skin or other skin problems such as spider veins on the back, shoulders or hands
- Loss of appetite and malnutrition
- Easy bleeding and bruising
- Pale stools or dark urine
- Transplant Success Rates
As in adults, the success rates for liver transplantation in children are excellent! The largest study of children with WD who have undergone transplantation shows 90 percent were still alive five years after getting their new livers.
Prevention – the Question of Routine Screening
A genetic or family history of WD is the only known risk factor for the disease and screenings are recommended for the siblings of a child diagnosed with the disease. There are no active screening programs to identify WD in the general population, although there are discussions of newborn or early childhood screening for the disease. Scientists have found screening methods that can be used in infancy and early childhood to help identify WD. In fact, studies involving thousands of children in Asia have shown routine screenings in late infancy and preschoolers can identify children with WD long before symptoms appear. However, arguments against routine screening for any disease involve a cost-benefit analysis – a large amount of money is typically needed to identify a small number of cases.
The good news is when identified early, treatment can prevent the development of WD symptoms and usually the need for a liver transplant.
5. Donated Organs
The liver is one of the few organs that can become available from either a deceased donor or a living donor. Since people with a healthy liver can safely donate a portion of it to someone whose own liver has failed, there is another potential source of donor livers. Carriers of the WD gene, parents of a child with WD or siblings of a patient, may still donate and have good liver function in the recipient.
Still, the need for donor organs is tremendous. According to the United Network for Organ Sharing (UNOS) there are more than 16,000 people on the liver transplant waiting list; about 600 of them are children. Only about 6,000 of those waiting get a new liver each year.
Regardless of where the liver comes from – a deceased or living donor – it must be a compatible match with the recipient's blood type and body weight and size.
Deceased Donor Livers
Most liver transplants come from deceased donors – known as cadaveric transplants. Deceased donors typically die of accidents or head injuries. Either they have arranged in advance to donate their organs upon death, or family members grant permission for donation after the victim is declared brain dead.
In deceased liver donor transplants the entire organ is removed from the donor and transplanted into the recipient. Sometimes the liver is split and a portion given to both an adult and child recipient or two children. This is called a split liver donation and it's a means of expanding the donor pool so more lives can potentially be saved.
If it's determined through a transplant evaluation that you or a family member is a candidate for transplantation you are put on a national waiting list. You may wait only a few days or the wait could be months or years. UNOS maintains the waiting list and it's important to remember that because the status lists are ranked by computer and are generated as donors become available, no one at your transplant center knows your rank on the waiting list.
In 2002, the national system for allocating livers changed to one that is continually updating through the MELD/PELD severity score to prioritize those on the waiting list. UNOS developed this scoring system based on specific criteria to ensure that all people on the waiting list are judged fairly, based on how ill they are and how badly they need a transplant.
Organ allocation for adults is based on the MELD score (Model for End-Stage Liver Disease) and organ allocation for children is based on the PELD score (Pediatric End-Stage Liver Disease). The adults and children in most urgent need of a transplant are placed highest on the status list and are given first priority, and this includes patients with liver failure due to WD. Since donor organs must be transplanted within hours of being harvested from the donor, geographic location of your transplant center is also taken into account when a liver becomes available.
Waiting times are unpredictable, so the transplant team will work to keep you or your family member in the best possible health until a suitable organ becomes available.
Living Liver Donors
In a living donor transplant, a segment of a healthy person's liver is transplanted into the person needing a new liver. The person who donates a portion of their liver can still live a very healthy life. Amazingly, within a few weeks of surgery the remaining segment of the donor's liver regenerates, or grows back to its full size! The same thing happens in the transplant recipient – the newly transplanted liver segment grows to the size the body needs to function normally. It's the only organ in the body that can do this!
Usually, living donor transplants occur between relatives. However, there are more and more instances of stranger-to-stranger living donor transplants, also known as altruistic donations. That is, a potential healthy donor may learn of a need and offer to go through the surgery in order to save another's life. The main advantage of a living liver donation is it can greatly reduce the recipient's waiting time. Thousands of people who need a new, healthy liver die waiting since there are not enough organs for all those on the waiting list.
Two studies evaluated living liver donations in patients with WD. They found it's safe and is an excellent treatment method for those with end-stage liver disease. These studies also showed that carriers of WD gene that are unaffected by the disease, parents and some siblings of the patient, may be donors with good recipient outcomes.
Like the transplant recipient, the living donor candidate goes through a very thorough health examination to be sure it's safe for them to donate. Since organ donation is an altruistic gift, an independent living donor advocate evaluates the potential donor to ensure donor safety, informed consent, and lack of coercion. The transplant team counsels and supports recipients, potential donors, and families through every phase of the process.
The living liver donor can expect to stay a week in the hospital following the transplant operation and needs to plan to be out of work for 2 to 3 months to fully recover. The success rates and recovery times for the recipient are about the same for both living and deceased donor transplants.
While living liver donation has become a very safe surgery with death rates below 1-percent for the donor, there are risks since it's a major operation. There can be temporary problems related to the surgical incision and the possibility of blood clots following the operation. The good news is the great majority of donors have recovered completely within a few months of their operations.
Risks of a Transplant
While transplantation can be a lifesaving surgery when all other treatment options are exhausted, recipients are at risk of having their body reject the new liver. Rejection occurs when the body doesn't recognize the new organ and sees it as "foreign" – the body's immune system gears up an attack against the donor liver. To prevent rejection, transplant recipients are given medicines known as "immunosuppressants." These medications have improved over the years making rejection less of a problem. However, a weaker immune system makes it harder for you to fight infections.
- Rejection drugs have side effects and risks including:
- Increased blood pressure
- Fluid retention
- Kidney disease
- Increased risk of cancer
- Transplant Recovery
The actual surgery to perform removal of the diseased organ and implantation of the new, healthy liver takes 6 to 12 hours. Transplant recipients typically remain in the hospital for 3 weeks and can usually return fully to normal activities within 6 months if there are no serious complications.
6. Waiting for a Transplant
If you're on a liver transplant waiting list due to chronic liver failure your doctors will advise you on how to remain as healthy as possible. Turning to transplantation means the medications used to treat WD are not an option for you. There are a number of complications that may develop with end-stage liver disease including:
- Encephalopathy – that is, toxins build up in the brain causing mental changes, confusion, and possibly coma. Medications can help.
- Edema or ascities – fluid builds up in the legs, feet, and abdomen. A low-salt diet and diuretics can help alleviate pressure. If needed, procedures or surgeries to reduce the pressure may be done.
- Infections – antibiotics may be necessary to reduce the risk since toxins are not being cleared through the liver.
- Bleeding risk – increased pressure around the portal vein and surrounding small veins may lead to bleeding in the esophagus or stomach. High blood pressure medications or endoscopic treatments may reduce this risk.
- Kidney failure – sometimes when the liver stops working, so do the kidneys even if they've been previously healthy.
- Kidney dialysis may be needed. The good news is that kidney function often returns to normal following a liver transplant.
Weight loss, fatigue, and jaundice are other physical symptoms of liver failure. A dietician can help you with limiting the weight loss that comes from the liver not producing the albumin needed to maintain normal muscle mass. A positive, happy atmosphere helps you continue normal activities on "up" days. Jaundice, or yellowing of the skin and eyes occurs because the liver isn't eliminating the bile that gets into the bloodstream. A side effect of jaundice is itching, which can be helped with medication. While jaundice may make you self-conscious, it shouldn't keep you from getting out of the house in order to keep spirits up.
Bridge to Transplantation
In some cases liver failure comes on suddenly and severely, which is known as acute liver failure. The patient may have to be hospitalized until a suitable organ becomes available. Specifically for WD patients with acute liver failure, devices that lower the copper in the circulation by filtering or exchanging the blood can provide some stabilization for patients while they await transplantation. These advanced procedures are typically performed at most liver transplant centers.
Take Your Medication!
If you have Wilson disease, the best way to prevent the need for a liver transplant is to take your prescribed medication! WD is a highly treatable disease with several proven therapies that can eliminate dietary copper from your body and protect your liver for life. Faithfully taking your medication means taking it every day during the intervals prescribed by your doctor. Never, ever take a break from your medication even if you're feeling well or have never experienced symptoms of WD.
Without medication WD is 100% fatal! Remember, a liver transplant is a last resort for the rare WD patients who do not respond to medical therapy or are diagnosed with the disease due to sudden liver failure. There is a shortage of livers for transplantation and while it can be a lifesaving therapy for those who do get a new liver, transplant patients must take medications for life.
Take Care of Your Liver
Faithfully taking your medications is the best way you can take care of your liver if you have WD. However, there are other lifestyle choices you can make to help ensure you keep your liver healthy:
- Eat a low-copper diet or limit your consumption of high-copper foods such as chocolate, shellfish, nuts, mushrooms, dried fruit, and liver.
- Eat a healthy diet of foods from all the major food groups, get plenty of fiber, and exercise regularly to help your liver work well.
- Limit or avoid alcohol since it can destroy your liver cells and those with existing liver disease can be more susceptible to damage.
- Avoid breathing or touching toxins such as cleaning and aerosol products, insecticides, and other chemicals. Toxins are filtered through your liver and can damage your liver cells.
- Don't smoke.
- Talk to your doctor about getting vaccinated against hepatitis A and B. While hepatitis A can be spread through unsanitary conditions or contaminated food and doesn't typically linger, hepatitis B can be spread through shared body fluids and contaminated needles and lead to life-long, chronic liver disease.
See your doctor twice a year – as he or she recommends – and perform the recommended routine blood and urine testing to be sure your liver is in good health.
The cost of a liver transplant can vary and it depends on where you live and the hospital you use. According to figures compiled by the United Network for Organ Sharing (UNOS) the average cost of a liver transplant for the first year is about $525,000. Studies comparing the costs of transplanting a deceased donor organ and living liver organ suggest living liver transplants cost slightly more, or are about the same cost at highly experienced transplant centers.
There are a number of resources you can access to help fund the high costs of transplantation. The hospital's transplant team has a financial coordinator who can answer your questions and help you navigate the finances. The costs start adding up quickly even before the transplant and recipients typically need to use several sources - sometimes fundraising – to cover the costs. There will be medical and non-medical costs before, during, and after the surgery.
The medical costs you can anticipate include:
- Insurance deductibles and co-pays
- Transplant evaluation and testing
- Hospital fee
- Transplant surgeon's fee and fees for all the other medical personnel including radiologists, anesthesiologists, and physicians
- Fee for recovering the donor organ
- Follow-up care and testing
- Additional hospital and physician fees for complications
- Anti-rejection drugs that can cost $20,000 the first year
- Non-Medical Costs
Transplantation is a major operation that involves an uncertain time frame in terms of waiting for a suitable organ to become available and there is a lengthy recovery. As a result, there are additional costs to consider:
Food and lodging for you and your family
Transportation to and from the transplant center – depending on location it could include plane fares
Lost wages for you and possibly family members who must spend time away from work
It's well recognized that a transplant can take a toll on you and your family physically, emotionally, and financially. The transplant team includes social workers to help you work through the impact on your lifestyle to ensure you have the resources and support in place for a successful transplant.
The information in the Transplantation section of the Wilson Disease Association website is intended to be a starting point for those interested in learning more about liver transplants and issues specific to those with WD. Below are sources of information:
"The Gift of Life 2: Surviving the Waiting List and Liver Transplantation," by Parichehr Yomtoob, Laura Yomtoob and Deborah Weppler, RN, MSN.
This book, which is written by parents of a son with WD who underwent two transplants is a detailed guide for anyone facing liver disease.
Copies are available through the WDA for $24.95.
Wilson Disease Association
5572 N. Diversey Blvd.
Milwaukee, WI. 53217
Voice: 414-961-0533 Toll Free: 866-961-0533 Fax: 414-962-3886
United Network for Organ Sharing (UNOS)
American Liver Foundation
New York, NY 10006
National Digestive Diseases Information Clearing House (NDDIC)
A service of the National Institutes of Health (NIH)
A service of the U.S. National Library of Medicine
10. Survivor Story
Brittany Duckworth stands in the doorframe of her white two-story house in Kennesaw, Georgia. The 22-year-old is the picture of health. It's not a surprise that she's done some modeling. Her make-up is perfect, accentuating her brown eyes and fair skin. She wears her dark hair long and straight and dresses in trendy, skinny jeans and layered tops. She channels her energy into training for marathons, working, and taking classes.
"Yes, I really did have a liver transplant," she says with a smile, knowing the news always comes as a surprise.
Her own failing liver was replaced with a donated healthy liver four years ago.
Standing just behind Brittany is her identical twin sister, Tiffany Duckworth. She's every bit as lovely as her twin and they look identical except for Tiffany's highlighted hair.
"I'm feeling good," says Tiffany. Her smile is softer than her sister's. She's dressed in running clothes, appearing tired and less energetic than her twin.
"Actually I feel great, given that I just had my liver transplant two months ago," Tiffany adds as she follows Brittany into her living room.
Brittany's story begins four years ago when she was eighteen. Her symptoms came on suddenly.
"I was sick. Really, really sick for two to three weeks prior to going to the hospital," she remembers. "My toenails turned yellow, my eyes turned yellow. I actually went to the hospital thinking I had a bad urinary tract infection because I had brownish-red urine. I was very uncomfortable with people being in close contact with me. Apparently I started having a different scent, not that it was smelly, but it was just different."
Brittany's face lights up as she shares her story. You know it has a happy ending. She sits cross-legged on a leather footstool. While she talks, her sister Tiffany stretches out on the matching leather chair, occasionally reading and typing on her phone.
"I drove the 20-minute ride myself to Kennestone Hospital. It was a Tuesday. I remember sitting on a chair and a doctor asking me to hold my hands out in front of me and they were pulsing. He said my liver was failing, but didn't know why," she recalls.
Her liver was failing fast.
The next day she was transported by ambulance 30 minutes south on I-75 to Atlanta's Piedmont Hospital. Piedmont has a Liver Transplant Center – Kennestone does not.
"They were driving the ambulance really fast. I don't remember if the sirens were going. I do remember they were trying to stick a giant needle in my arm."
Doctors still didn't know what was causing Brittany's liver to fail. However, the doctor who admitted her at Kennestone didn't give up on finding a reason. He continued ordering laboratory tests and reviewing her symptoms.
By Wednesday night, he had the answer.
"He called the doctors at Piedmont and said, 'I know what it is. It's Wilson disease.'"
Two days after Brittany admitted herself to the hospital she was put at the top of the liver transplant waiting list in seven states. She has no memory of what followed. Doctors told her family that if a compatible liver wasn't found, she might not survive the weekend. On Friday a liver became available. The doctors told her family they were going ahead with the transplant, even if the liver wasn't a perfect match. Otherwise, she'd die.
"But it turned out it happened to be the perfect one!" Brittany says with a smile, expressing total joy and gratitude. "I know it came from a girl in Louisiana who was not much older than me. She had been in a really bad accident. She had been a runner so I did a marathon last year and figure it's my tribute to her."
Tiffany's story also begins four years ago.
"After my sister was diagnosed with Wilson disease they did a liver biopsy on me and made the diagnosis," Tiffany recalls matter-of-factly. Since the women are identical twins it wasn't a surprise that both had the genetic disease, though research suggests Wilson disease may not always present equally in identical twins.
Even though Tiffany had Wilson's she hadn't developed any telltale signs of the disease. Doctors looked for tremors, behavior changes, Kayser-Fleischer rings in the eyes, and other physical signs typically seen in people with Wilson disease, but they didn't find anything. Because there was evidence of the disease in her liver biopsy, doctors prescribed both penicillamine and zinc therapy to prevent development of symptoms and possible liver damage.
"I couldn't take the Cuprimine for more than a week because I felt so terrible," she recalls. "I just took the Galzin. I moved to Louisiana to go to school and started seeing a physician there. After a while we couldn't find the Galzin so I took another type of zinc." (Cuprimine is a brand name for penicillamine; Galzin is a pharmaceutical grade of zinc.)
For almost four years, Tiffany's health was fine. She's a risk-taker and has an incredible sense of adventure. She raced motocross while studying to do work in the medical field.
"I used to race motocross and should have stopped after the first concussion but I didn't. I had a bad wreck and had to quit," she says. "I guess you could say I'm an adrenaline junky."
"We grew up as tomboys riding four-wheelers, dirt bikes, and going hunting," Brittany adds.
"The first signs that something was going wrong were feeling tired and cranky," remembers Tiffany. "I was always having issues with my bladder and kidneys. Then I started throwing up every few days and leading up to that I'd feel really terrible. It would come on kind of suddenly."
"At the time I was taking a physiology lab in school and we all had to pee in a cup and look at it under a microscope. We were told what were bad signs on a slide and I found one in my urine," she recalls with a bit of an ironic laugh. "I showed my teacher. She looked and got all serious and said 'I'm just a veterinarian but I think you better get this checked out.'"
Her local doctor dismissed the lab finding, telling Tiffany it was normal for patients with Wilson disease. He said her kidneys were deteriorating, but they would recover. As a result, Tiffany dismissed the warning signs she was experiencing.
She went to the doctor again when she became exhausted all the time. More tests were run and her liver function tests hadn't worsened. She continued with her zinc therapy, though she indirectly admits to missing some doses.
"I had forgotten some days. I'm not a great pill taker because it's not something I think about," she says.
Patients are told their livers won't fail if they're compliant with their treatment. However, new research suggests zinc therapy may not always prevent liver failure.
The turning point for Tiffany came after she trained for a 5-K race and on the day of the run threw up on the course. The next day she was working and couldn't stop throwing up.
"We were so busy at the store and my manager was so mad at me because I kept having to leave and throw up and finally I told her I had to go home and we were so slam-packed and she was so angry," recalls Tiffany. "By this time I was living off Tums and Pepto-Bismol."
She called her aunt, who drove her immediately to a hospital emergency room.
"I don't remember much after that," she says. "I remember being transported from Louisiana to Atlanta's Piedmont Transplant Institute. My dad said I threw up the whole way and I just remember sleeping. I remember people asking why I was so calm about getting a transplant because I really wasn't worried at all. It might have been because I prayed about it a lot. I was at ease with it. And, seeing my sister make it through fine, I didn't see why I'd be any different."
The next day, Tiffany had her liver transplant.
Living with a Transplant
Brittany appears to live a very normal life. One of her dogs wanders into the living room every now and then and cuddles up against her. Another dog with a loud, insistent bark calls for her attention from outside her back door. She's a newlywed and talks proudly of her husband who's working at a law firm specializing in criminal cases while finishing law school in Atlanta. She tells her story on her one day off during the week from managing a pet boutique. On other days she takes classes in marketing.
"I enjoy my job and love by boss. She's been so great," says Brittany. "You do get sick more often with a transplant because the drugs you're on make you feel really bad sometimes. You have blood work you have to do every month. Liver biopsies every year. Bone scans, because some of the medicines you're on cause bone loss. And a chest x-ray. I'm not sure why you do that one and it's annual. Once you've had a transplant, I don't want anyone to mistake that it's just ok, that now it's an easy life, because it's not."
"Do anything you can to avoid a transplant," she admonishes. "Take whatever medicine you have to because once you're on immunosuppressant drugs – they keep you alive – but there are side effects from those too. It might have fixed the disease but now you have a transplant. I mean, everything changed."
"So if I had had the option to take the drugs for Wilson's, I would have, hands down," she gets teary as she adds, "but I didn't have that chance."
Tiffany is much quieter and appears to have been crying.
"I don't have much advice because I'm just two months out and still healing," Tiffany says, "I guess because I had a transplant it's now real. It wasn't really real to me when I was 18 because I hadn't seen any symptoms. I think I was in denial that I even had an issue."
Both women know their new, healthy livers are a precious gift and second chance at life.
"I'm very fortunate to have had the transplant and don't want anyone to think that I'm not," Brittany says, "because I wouldn't be here if it wasn't for that. I don't know how else to put it. I'm happy to be alive for sure and be here and have my own little family. My husband is very driven to succeed and I am too, but I like to have my days here to paint and draw and walk and observe and enjoy life."
"When you wake up, it's a good day."
11. Letter from Transplant Physician
Dear Patients and Their Loved Ones,
Liver transplantation can be a scary medical term. To others it's a lifesaving phrase filled with gratefulness. I became a hepatologist (liver doctor) and specialize in caring for patients who are in need, or have had a liver transplant as there is not greater satisfaction than assisting patients through complex medical testing and treatments and watching them thrive and succeed.
I've had the opportunity to care for people with Wilson disease who've needed liver transplants. I also care for healthy WD patients who we're trying to keep healthy and avoid the need for a liver transplant.
If you have Wilson disease the most important thing you can do is take your medication every day for the rest of your life. This message is repeated throughout the website and there's a reason for it. Too often patients stop taking their medication or don't take it regularly. That's a huge mistake. It's also a mistake to think you can just get a liver transplant if your own liver fails and that everything will be okay. There is no guarantee that a liver transplant will be available in time and that the surgery will be a success. Liver transplantation does save lives and can offer a good quality of life for many years. But there's a tradeoff: there are not enough livers for all those who need them and those who do get a new liver must be compliant in taking a number of medications that carry health risks. There's always the chance that the new organ will be rejected.
In addition to taking your medication regularly it's important to see your doctor as recommended for lab testing. If possible, you should be under the care of a doctor who has expertise in caring for the liver such as a hepatologist or gastroenterologist. To ensure that your liver is healthy and functioning normally you should have regular blood and urine tests.
Even when WD patients take care of themselves and get appropriate medical care their livers can sometimes, though rarely, fail. These patients shouldn't feel guilty if they end up needing a transplant. We can also see patients who present with similar lab results and liver function and some respond well with therapy, while others progress to severe liver failure. It's normal for patients and their families to ask, "Why?" Through research and case reports doctors are getting more information to help predict which patients are more likely to develop more serious liver disease.
The story of the twins, Brittany and Tiffany Duckworth [link to story here] is a perfect example of how WD patients can end up needing transplants. Brittany's liver disease was sudden and severe. She didn't have the opportunity to take the recommended therapy for Wilson disease because her own liver failed her before she could. While she's grateful for her liver transplant and has had an excellent result, she says she would do all she could to avoid a transplant. Her twin, Tiffany struggled with medication compliance for WD and ultimately developed liver failure. It's impossible to say if she could have avoided a transplant if she had taken her medication faithfully as they carry the same genetics.
The WD patients I've cared for represent the spectrum of individuals with this disease. I can assure you it's possible to live a normal life and lifespan with this disease with an exceptionally high quality of life when the disease is recognized early and treatment and follow up with medical care occur. Even when there's severe liver disease at the time of diagnosis, with good personal and medical care the liver can recover and function normally. That's great news! I can also assure you that if a liver transplant is necessary, patients can have a long and productive life when they follow their doctor's advice and take care of their new gift of life.
Lance Stein, MD
Piedmont Transplant Institute
Clinical Assistant Professor of Medicine, Mercer University School of Medicine
Liver Transplantation WDA
- Lance Stein, MD
Liver Diseases and Transplantation
Clinical Assistant Professor of Medicine, Mercer University School of Medicine
Piedmont Transplant Institute, Atlanta GA
- United Network for Organ Sharing (UNOS) www.unos.org
- American Liver Foundation www.liverfoundation.org
- National Digestive Diseases Information Clearing House (NDDIC)
A service of the National Institutes of Health (NIH)
- Medline Plus. A service of the U.S. National Library of Medicine
- "Zinc Monotherapy Is Not as Effective as Chelating Agents in Treatment of Wilson Disease," Weiss, et al, Gastroenterology 2011;140:1189-1198
- "Fulminant Wilson's Disease Requiring Liver Transplantation in One Monozygotic Twin Despite Identical Genetic Mutation," Kegley, et al, American Journal of Transplantation 2010; 10: 1325-1329
- Liver Transplantation and Liver Transplant in Children www.clevelandclinic.org
- Liver Transplant www.mayoclinic.org
Written by: Rhonda Rowland
R2 Communications, LLC
Reviewed and Edited by: Michael Schilsy, MD, Chair of the WDA Medical Advisors