One of the
awesome terrifying things about having an immune deficiency is that, while your body lacks immunity in many areas – it can go into “attack mode” in others, which is what happened to me. My body decided that my liver was the enemy, and starting trying to destroy it.
So, what exactly is PBC?
PBC stands for Primary Biliary Cirrhosis – but because most patients are not actually “cirrhotic” when diagnosed, they are lobbying to change the name to Primary Biliary Cholangitis – which refers to inflammation of the bile ducts.
The PBC Foundation (link) (a great source of information), says that “the body thinks that the bile ducts within the liver are foreign objects and tries to destroy the lining to these ducts. These bile ducts are designed to allow the flow of bile from the liver, so damage of these ducts leads to poor drainage of bile acids. The bile acids then leak from the bile ducts, damaging surrounding liver cells, which then causes inflammation and scarring in the liver.”
PBC is a progressive disease, and as the bile ducts are destroyed, the bile remains in the liver and causes scarring (or cirrhosis). Left unchecked, the amount of scar tissue increases and causes the liver to lose function. PBC is a slowly advancing disease, with many people still able to lead active and productive lives for 10-15 years after diagnosis. However, once the disease advances to cirrhosis, patients are at risk for life-threatening complications.
What are the Symptoms?
Many people with PBC are diagnosed when they are asymptomatic – they are the lucky few who will discover the disease because of abnormal lab results, and they will be able to begin treatment before the disease advances. These are the patients who typically have the best outcome. Patients who are symptomatic when diagnosed are already “on the clock” because the damage has already begun, but still –the earlier you catch it, the better your prognosis.
Fatigue is the most common, and the most prevalent, symptom. Doctors have no explanation for why it occurs or how to treat it….but for me, there was finally an answer for the pervasive tiredness that loomed over every day. Regarding other symptoms, the American Liver Foundation writes that “when symptoms do occur the most common is pruritus, or intense itching of the skin, often in the arms, legs and back. Other symptoms may include fatigue, jaundice, fluid build-up in the ankles and abdomen, and darkening of the skin and collection of fatty deposits in the skin around the eye.” Jaundice is an indication of how far the disease has progressed.
There are a few other disorders which often go hand in hand with PBC, including Vitamin D Deficiency, Osteoporosis, Sjogrens Syndrome, high cholesterol, liver malignancies (because it’s not enough to have liver disesase, we are also at risk for liver cancer), gallstones, and thyroid disease.
What causes PBC?
Simply put – they don’t know. There appears to be some genetic links, but the exact cause remains unknown. PBC affects mostly women (check) over forty (check, check). In fact 90% of PBC patients are women.
You know what DOESN’T cause PBC? Alcohol. Most people hear the word “Cirrhosis” and assume that it’s caused by alcohol consumption – when in reality, cirrhosis means “scarring.” That said, if diagnosed with PBC, you do have to swear off alcohol. Pretty much for good. I really like wine. And I really miss it.
PBC is rare…with a disease prevalence of 40 cases per 1,000,000 people. (Which is why none of my doctors picked up on it for the first few months!)
How is PBC Diagnosed?
I’ve taken this directly from the American Liver Foundation’s site:
Because many PBC patients have no symptoms, the disease is often discovered through abnormal results on routine liver blood tests. Doctors need to do several tests to confirm a diagnosis of primary biliary cirrhosis. One test looks for the presence of antimitochondrial antibodies (AMA) in the blood. This test is positive in nearly all PBC patients. Ultrasound exams and a liver biopsy, in which a small sample of liver tissue is removed with a needle, may also be performed.
My first abnormal liver function tests were in October ’15, and virtually all of my liver enzymes were elevated:
Total Alkaline Phosphatase: 388
AMA M2: 182
The most valuable nugget of wisdom I’d like for you to remember is
- You can have abnormal liver results for many reasons. Do not freak out the first time this happens. (BTW – here is a great little video explaining liver function tests.
- But don’t let it go. Keep re-checking them, keep searching for the underlying cause. They aren’t elevated for “nothing,” but there will most likely be a benign cause. Do not let months go by without re-checking. If you are not satisfied with your physician’s response, get a second opinion. (I knew in my heart that something was wrong with my liver. I just kept thinking I was crazy for even thinking it. And I had to push to get answers.)
First of all – find a hepatologist. Even if your gastroenterologist or your pcp diagnoses your PBC, you need a specialist. This disease is rare, and you don’t want to be a test case. Patients most often take a daily dose of a drug called ursodiol. This is urseodeoxycholic acid, a naturally occurring bile acid. This drug improves the liver’s ability to function in PBC patients. It also extends life expectancy and may delay the need for a liver transplant. The recommended dose is 15 mg per kilogram of body weight, and the medication must be taken every day for life, or until a liver transplant. Patients rarely experience side effects from ursodiol. (I have zero side effects!) Other drugs are effective at relieving the symptoms of PBC, including the itching. Not everyone responds to ursodiol. I am one of the lucky ones.
What were my symptoms upon diagnosis?
Remember – everyone is different. My case is complicated because I also have CVID, lyme (tbd), and Nodular Regenerative Hyperplasia – but we think we’ve isolated the PBC symptoms that were present before diagnosis:
- swollen lymph nodes when drinking alcohol
- itching – mine is very mild compared to many others. I itch at night. Benadryl controls it.
- an ache under my ribcage. (Sometimes it’s more than an ache)
- UTI’s (they don’t know why, but chronic UTI’s are a predictor of PBC.
- fatigue. Oh my word the fatigue. I finally had an answer when my kids said “you always say you are tired.”
How Am I Doing on Ursodiol?
Thank you for asking. I’m doing GREAT on the urso. I have no side effects, reduced itching…and most importantly: MY LIVER NUMBERS ARE IN THE NORMAL RANGE. Thank you, God. And thank you to my amazing team of doctors. And thank you to a friend who fiercely advocated for me and got me into treatment at NIH….which is another post for another day.
American Liver Foundation:http://www.liverfoundation.org/abouttheliver/info/pbc/
British Liver Trust: http://www.britishlivertrust.org.uk/
(Because of a higher PBC rate, the British Liver Trust has become a fantastic source of information)
Online Support – this has by far been the most helpful source of information and reaassurance: https://healthunlocked.com/