Rare Endocrinology News

Disease Profile

Primary sclerosing cholangitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

K83.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cholangitis, primary sclerosing; Sclerosing cholangitis

Categories

Digestive Diseases

Summary

Primary sclerosing cholangitis (PSC) is characterized by inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis), narrowing of the ducts, and a buildup of bile in the liver.[1] Early signs and symptoms include extreme tiredness, abdominal pain, and itchiness.[1] As the condition worsens it may cause jaundice, an enlarged spleen, and eventually liver cirrhosis and failure. Other complications may include weight loss, vitamin deficiency, and osteoporosis. Many people with PSC develop other autoimmune conditions such as inflammatory bowel disease, type 1 diabetes, celiac disease, or thyroid disease. PSC is also a risk factor for cancer of the bile ducts (cholangiocarcinoma).[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
30%-79% of people have these symptoms
Abnormal large intestine physiology
0012700
Ascites
Accumulation of fluid in the abdomen
0001541
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Dilated superficial abdominal veins
0030168
Elevated alkaline phosphatase of hepatic origin
0010638
Elevated hepatic transaminase
High liver enzymes
0002910
Fever
0001945
Hepatic fibrosis
0001395
Hepatomegaly
Enlarged liver
0002240
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Palmar telangiectasia
0100869
Portal hypertension
0001409
Spider hemangioma
0012522
Splenomegaly
Increased spleen size
0001744
Ulcerative colitis
0100279
Weight loss
0001824
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Adenocarcinoma of the large intestine
0040275
Celiac disease
0002608
Cholangiocarcinoma
Bile duct cancer
0030153
Cholelithiasis
Gallstones
0001081
Chronic hepatic failure
Chronic liver failure
0100626
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Depressivity
Depression
0000716
Fatigue
Tired
Tiredness

[ more ]

0012378
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized

[ more ]

0003700
Hepatitis
Liver inflammation
0012115
Hepatocellular carcinoma
0001402
Hypoalbuminemia
Low blood albumin
0003073
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Low levels of vitamin A
Vitamin A deficiency
0004905
Low levels of vitamin D
Deficient in vitamin D
Vitamin D deficiency

[ more ]

0100512
Low levels of vitamin E
Vitamin E deficiency
0100513
Low levels of vitamin K
0011892
Osteopenia
0000938
Osteoporosis
0000939
Pancreatitis
Pancreatic inflammation
0001733
Pleural effusion
Fluid around lungs
0002202
Polyclonal elevation of IgM
0003459
Prolonged prothrombin time
0008151
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Thyroiditis
Thyroid gland inflammation
0100646
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
1%-4% of people have these symptoms
Acute hepatic failure
Acute liver failure
0006554
Encephalopathy
0001298
Neoplasm of the gallbladder
0100575
Uveitis
0000554

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary sclerosing cholangitis. Click on the link to view a sample search on this topic.

          References

          1. Primary sclerosing cholangitis. Genetics Home Reference. May 2012; https://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis. Accessed 3/4/2013.