Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is a chronic disease in which the bile ducts inside and outside the liver become inflamed, scarred, and eventually narrowed or blocked. When the bile ducts are narrowed or blocked, bile builds up in the liver and causes liver damage. This damage can lead to cirrhosis and eventually liver failure. Medical experts believe that PSC is an autoimmune disease, that causes the immune system to be overactive and attack normal, healthy bile duct cells.

Frequency

An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide (NLM 2020).

Risk Factors (NIDDK n.d.)

• Ages between 30 and 50
• Male
• inflammatory bowel disease (IBD), most commonly ulcerative colitis
• Autoimmune diseases
  • Type1 diabetes
  • Celiac disease
  • Thyroid disease
• Family member who has PSC

Etiology

PSC is thought to be multifactorial arising from a combination of genetic and environmental factors. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex (NLM 2020).

Common initial symptoms of PSC are:

• Fatigue, malaise, nausea
• Abdominal discomfort, especially the upper right portion of the abdomen
• Itching (pruritus)
• Jaundice
• light-colored stools
• unintended weight loss
• hepatomegaly
• splenomegaly

Complications

• Individuals may develop deficiency of fat-soluble vitamins, including vitamins A, D, E and K. Bile normally helps these fat-soluble vitamins to be absorbed by the body.
• Some individuals with chronic liver disease develop metabolic bone disease, which may be referred to as hepatic osteodystrophy.
• PSC can progress to cirrhosis, liver failure and about 8-15% of affected individuals develop cholangiocarcinoma

Diagnostics

Clinical Testing and Work-Up

• Liver enzymes may be elevated but they are nonspecific to PSC
• MRI cholangiopancreatography
• Liver biopsy
• Cross sectional imaging of the liver is recommended by some providers at
  6 – 12 month intervals because of the high risk of hepatobiliary cancers.

Treatment (NORD 2019)

Treatment is directed toward individual symptoms and at slowing the progression of the disorder. Ultimately, individuals with PSC may require a liver transplant. Liver transplantation has proven effective at treating individuals with PSC.

References

Primary sclerosing cholangitis. NORD (National Organization for Rare Disorders). (2019). Retrieved November 11, 2021, from https://rarediseases.org/rare-diseases/primary-sclerosing-cholangitis/.

U.S. Department of Health and Human Services. (n.d.). Definition & Facts for primary sclerosing cholangitis. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Retrieved November 11, 2021, from https://www.niddk.nih.gov/health-information/liver-disease/primary-sclerosing-cholangitis/definition-facts#whatis.

U.S. National Library of Medicine (NLM). (2020). Primary sclerosing cholangitis: Medlineplus genetics. MedlinePlus. Retrieved November 11, 2021, from https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis/#causes.

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