Being unique is commendable but none of us like to be abnormal. While we love to achieve rare feats none of us like to take pride in owning rare diseases. Every country has a specific definition for rare disease quoting it to be rare based on the number of individuals in a population suffering from the problem. Most rare diseases are genetic and appear during early stages of life. The Global Genes organization of the US has declared that there are more than 300 million people suffering from one of the 7,000 diseases that has been declared ‘rare’ in the United States. There are a number of rare diseases enumerated at www.firsteatright.com which can be helpful for those interested.
Primary Biliary Cholangitis (PBC)
PBC is a chronic progressive liver disorder mostly affecting women in their middle age. Though considered as a rare disease it is the most common chronic cholestatic liver disease in adult women as 1 in 1000 women above the age of 40 suffer from PBC. PBC is the destruction of the bile duct in the liver leading to the formation of scar tissues within the liver that results in affecting the liver’s functioning capability. Our liver produces bile and this fluid travels via these ducts into the small intestine where it helps in the digestion of fat and fat-soluble vitamins (A, D, E and K). When this duct is destroyed there is a build-up of the fluid in the liver contributing to inflammation and scarring (fibrosis). This finally leads to cirrhosis as scar tissue replaces healthy liver tissue impairing normal liver functioning and ultimately liver failure.
PBC is divided into four stages with stage 1 being early disease (there is no prominent scarring) to stage 4 (presented with cirrhosis). While the exact root cause behind the disease remains unknown its assumed to be due to a combination of factors such as genetic, autoimmune and environmental factors. Almost 95% of people with PBC produce antibodies that act upon the body’s own mitochondria.
PBC is a disease that progresses slowly over time and not many people realize its presence until they are diagnosed by chance. Sometimes, it can even take as long as 20 years for the symptoms to appear but advancements in medical field helps in slowing the progress of the disease thereby extending your quality of life. Common symptoms of PBC include:
PBC might even initiate the occurrence of other autoimmune diseases such as thyroid disease, Sjogren’s disease (causes dry eyes and mouth) and celiac disease (allergy to gluten affects the small intestine). While there is no cure for PBC the use of various medications can minimize the progression of the disease to enable the patient to live a better quality of life. It was in 2004 that the drug ursodiol (Urso) also called as ursodeoxycholic acid (UDCA) was approved by the FDA for treating PBC as the drug helps the bile in moving through the liver into the small intestine. In 2016, another drug called obeticholic acid (Ocaliva) was approved to treat PBC in adults alongside UDCA to treat those whose response for UDCA was not appreciable. Certain other medications and fibrates are used to decrease symptoms such as itching, fat malabsorption and portal hypertension.
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Dr. Nafeesa Imteyaz of First Eat Right clinic, is the Best Dietitian Nutritionist in Bangalore. Best Dietitian Nutritionist in Pune. Best Dietitian Nutritionist in Hyderabad. Best Dietitian Nutritionist in Chennai. Best Dietitian Nutritionist in Mumbai. Best Dietitian Nutritionist in Delhi. Best Dietitian Nutritionist in Kolkata.