Video Vignettes: Through Their Own Eyes: Rare Autoimmune Liver Diseases

rare autoimmune liver diseases

By Kathleen Hoffman, PhD, MSPH

The liver has been called a forgiving organ because of its capacity to regenerate. However, chronic unrelenting damage over years can overwhelm its regenerative abilities, resulting in permanent scarring.

Well-known risk factors-being overweight, alcohol abuse, viral infections like Hepatits-C–make cirrhosis of the liver the seventh leading cause of death in the US, affecting an estimated 1 in 400 adults. 1

Yet, a small number of cirrhosis cases are caused by three rare autoimmune diseases,  autoimmune hepatitis (AIH), primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC). Patients dealing with these conditions seek support in the American Liver Foundation Support Community on Inspire.  With this in mind, a member shared his experiences obtaining and giving support to others dealing with autoimmune liver diseases.

Rare Autoimmune Liver Conditions

Overall, approximately 2000 US members of Inspire have indicated interest in these rare autoimmune conditions.

Autoimmune Hepatitis

As with all autoimmune diseases, the immune systems of those with autoimmune hepatitis (AIH) erroneously target their own liver cells. There is no cure for AIH but it can be treated for life with immunosuppressive medication.

AIH affects women more often than men. According to NORD, the prevalence of AIH is 24 per 100,000. 2  There are two types, types 1 and 2. Around 70% of those with Type 1 are young women. A less common form, Type 2, affects girls from 2 to 14 years of age.  Both types of AIH are often associated with other autoimmune conditions- Crohn’s disease, celiac disease, type 1 diabetes or rheumatoid arthritis. 3

Inspire Member Experiences

Inspire members often discuss their experiences with treatment. One parent requested help for her child.

“My 14 year old son just diagnosed with Autoimmune Hepatitis Type 1.

Wondering if there is anyone else out there with a similar condition. He has responded to Prednisone and 6MP but has severe acne and seems tired and not in good form. Not sure what to expect the future to hold. I’m finding it very hard to cope with. Feels like we are the only ones for miles around dealing with this.”

She received several responses.

“I was 17 when I was diagnosed with Autoimmune Hepatits Type 1… I didn’t have any visible symptoms…I was very fatigued… moody (I’m usually a positive person), and just felt all-around sick (like a mild flu). …I finally went to the doctor. I took so many blood tests I lost count…I finally had a blood test for liver enzymes and had a liver biopsy – the liver biopsy showed the scarring of my liver which along with elevated liver enzymes (about 3x the normal range) determined I had AIH. The medication I was prescribed and continue to take is Prednisone. I started with I think about 30mg. For the first week or two I felt amazing! After being fatigued for so long, I felt like I suddenly had so much energy! But unfortunately, it didn’t last. …It’s like a roller coaster. You hit a high in the beginning and quickly drop back down – but after a while it evens out and you will feel better.

Over the next year, I was able to slowly reduce my dose of prednisone from ~30mg to 20mg. I had some mood swings and felt tired and OMG the acne! I can completely relate to your son’s acne problem…. This is an unfortunate result of the prednisone. It should get better when your son gets to a lower dose if he can. …I am now 22 and have been taking 5mg for about a year.

I would definitely recommend seeing how low your son can reduce his prednisone dosage without causing his pre-diagnosis symptoms (definitely ask a doctor before reducing the dosage!). …One key thing with lowering the dosage – DO IT SLOWLY! There are really bad withdrawal symptoms if the dose is dropped too quickly or too much….”

Another member described the experience on a different steroid.

“I was given a steroid, not predisone, to make the swelling in my liver go down. I took it for a month. It was expensive but it worked…. I was told I will have to take this for the rest of my life with monthly blood tests and 2 yearly followup apts. At my apt. I was told we caught this early with very little damage done. As long as I take my medicine I will probably live out a good life and not die from liver complications or need a transplant and will die from something unrelated…. I do still suffer from some side effects that come and go like headache, infrequent stomach pains that will wake me from sleep it is so intense or during the day also, Intense sweating, dry mouth, nausea, loss of appetite, etc.”

Primary Biliary Cholangitis

Primary biliary cholangitis is the most common of these rare autoimmune liver diseases.  In this condition, the immune system attacks the small and medium sized bile ducts.

Bile, an acidic product of the liver, flows through the bile ducts to the duodenum, assisting in digestion of fats and fat soluable vitamins. But left in the liver, bile causes damage and scarring of the liver.4

Around 90% of PBC cases are in women. Research has found that heredity may play a role in causing PBC as first and second degree relatives of people with PBC are significantly more likely to receive a diagnosis of PBC than the general population.5

Most people do not have symptoms in the early stages of PBC. The most common symptom is itching of the arms legs and back. Like AIH, this condition seems to occur alongside other autoimmune disorders like Sjogren Syndrome and scleroderma. Treatment of PBC is urosdesoxycholic acid (UDCA), which protects bile duct cells.4

Inspire Member Experiences

One Inspire members stated, “This is a confusing disease.”  For example, one member was concerned about their platelet counts.

“I was diagnosed 1 year ago with PBC. Has anyone else experienced their platelet count falling? Mine is now 135. This makes me really nervous.”

Seventeen people replied to reassure this member.

“I know 135 is very low, but try not to worry too much. Mine have gone back and forth between 48 and 70 for three years now. My spleen is very large and seems to gobble them up. While I am careful, I don’t worry about it too much. If it gets too low, I have seen on here (very rarely) people who have had infusions of platelets. Seems like your doctor is watching it and keeping an eye on the number. It is something to watch, but not dangerously low right now.

You will probably hear from others soon with some good advice. We can only speak from our own experiences, and a doctor you trust should be your first line of defense.

Meantime, try not to worry too much, this is a long journey and you will make friends here who will want to help you.”

Another member stated.

“in April my platelet count was 27. I have nosebleeds but am still hanging in there. I am stage 4 pbc & have been on the transplant list for over 10 years.”

Yet another encouraged,

“Yes. I have had this condition for 3 years and my platelets have always been low but my doctor says not to worry as if they get really low they can do something about it, so don’t worry”

Primary Sclerosing Cholangitis

Primary Sclerosing Cholangitis is a condition in which the immune system attacks the larger bile ducts, both within and outside the liver,  causing inflammation, obliteration and scarring. 6 With both PBC and PSC, disruption in the flow of bile causes issues with malabsorption of nutrients and an accumulation of toxins in the body.

Unlike the other two rare autoimmune  liver diseases, PSC is found more frequently in men than in women. The prevalence of PSC is 1 person per each 100,000 people in the US — an estimated 30,000 people Americans living with PSC. 7

Detecting PSC is difficult and requires MRI to show the narrowing or irregularities that occur in the bile ducts. Treatment is also difficult. For those with PSC, ursodeseoxycholic acid, although improving blood results, doesn’t seem to change the course of the disease.

Inflammatory bowel disease, ulcerative colitis and Crohn’s Disease are associated with PSC. PSC also increases the risk of cancer, especially bile duct cancer, gall bladder and colon cancers. According to NORD, PSC is one of the leading reasons for people needing a liver transplant.8

Inspire Member Experiences

Inspire members with PSC look for support and information. One member asked,

“Recently I had an MRI which showed stones in my bile duct, so I went back for MRI with contrast, I assume the contrast can help stage the degree of cirrhosis? Also I didn’t know if anyone had had the surgery to clean out the bile duct. I have lots of thoughts and maybe misunderstandings but I appreciate our fellowship, even if you guys may not have any answers,”

Explanations of the procedures were included in the responses.

“The surgery to clean out the ducts…do you mean an ERCP? I have had that a couple of times to stretch open the ducts. …There comes a point in your disease where they do MRIs on a regular basis to watch for liver cancer. Our risk for that happening is increased because of the disease. Perhaps they can stage the disease that way also. Mine was always staged by biopsy in the past. Now that I am stage 4, I don’t think they will do more of those. Also, tests and treatment of this disease have improved as the years go by.

Don’t be afraid to ask questions. There is lots of support and knowledge here.”

Another member shared his experience with ERCP.

“I too had PSC (Primary Sclerosing Cholangitis) and my last liver biopsy showed I was stage 4. I went through 5 ERCP procedures 4 of those in the last two years. The ERCP although very invasive does bring a wonderful quality of life back to you although it may be for only a short time. The doctor that performed the procedure on me each time would not put in a stent however unless it was absolutely necessary. There are so many other problems with the stents, one being the PSC just strictures the stents as well and you have another problem on your hand. Make sure you are under the care of a good hepatologist. And please, Please, make sure you do not let your hometown GI doctor do the ERCP procedure on you. Find a good doctor who does these every day. You will probably find one of these in a teaching hospital or transplant center. In the wrong and inexperienced hands this procedure can be very risky.”

One member warned against supplements and homeopathic cures.

“You will read a lot about so many cure-alls, special diets, etc. for PSC, but coming from one who knows there is nothing you have eaten, nothing you have smelled or been exposed to that caused your PSC. You will find out as you go on your journey that there will be certain foods you cannot eat, smells that make you want to throw up your food, unbearable nausea, etc. When it comes down to PSC what you eat is not going to slow down the progression of your PSC. PLEASE if you have read about any liver cleansing diets, run as fast away from those things as you can. These so called detoxification diets may kill you.”

Patients with rare diseases on Inspire

Patients with rare disorders are often difficult to find.  Inspire has robust communities of patients with rare disorders and extensive user generated content. Read our case study, “Finding the Rarest of the Rare for Market Research,” to learn how Inspire found a group of extremely rare patients within our membership that helped one company understand the patient experience the company’s patient focused drug development (PFDD) forward. Contact us to learn how we can increase your patient-centric research.

See our case study “Finding the Rarest of the Rare for Market Research”

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