The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Autoimmunity | Very frequent (present in 80%-99% of cases) |
| Abnormal large intestine physiology | Frequent (present in 30%-79% of cases) |
| Ascites | Frequent (present in 30%-79% of cases) |
| Cirrhosis | Frequent (present in 30%-79% of cases) |
| Dilated superficial abdominal veins | Frequent (present in 30%-79% of cases) |
| Elevated alkaline phosphatase of hepatic origin | Frequent (present in 30%-79% of cases) |
| Elevated hepatic transaminases | Frequent (present in 30%-79% of cases) |
| Fever | Frequent (present in 30%-79% of cases) |
| Hepatic fibrosis | Frequent (present in 30%-79% of cases) |
| Hepatomegaly | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Palmar telangiectasia | Frequent (present in 30%-79% of cases) |
| Portal |
Frequent (present in 30%-79% of cases) |
| Spider hemangioma | Frequent (present in 30%-79% of cases) |
| Splenomegaly | Frequent (present in 30%-79% of cases) |
| Ulcerative colitis | Frequent (present in 30%-79% of cases) |
| Weight loss | Frequent (present in 30%-79% of cases) |
| Adenocarcinoma of the large intestine | Occasional (present in 5%-29% of cases) |
| Celiac disease | Occasional (present in 5%-29% of cases) |
| Cholangiocarcinoma | Occasional (present in 5%-29% of cases) |
| Cholelithiasis | Occasional (present in 5%-29% of cases) |
| Chronic hepatic failure | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Depression | Occasional (present in 5%-29% of cases) |
| Fatigue | Occasional (present in 5%-29% of cases) |
| Generalized amyotrophy | Occasional (present in 5%-29% of cases) |
| Hepatitis | Occasional (present in 5%-29% of cases) |
| Hepatocellular carcinoma | Occasional (present in 5%-29% of cases) |
| Hypoalbuminemia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Osteopenia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Pancreatitis | Occasional (present in 5%-29% of cases) |
| Pleural effusion | Occasional (present in 5%-29% of cases) |
| Polyclonal elevation of IgM | Occasional (present in 5%-29% of cases) |
| Prolonged prothrombin time | Occasional (present in 5%-29% of cases) |
| Pruritus | Occasional (present in 5%-29% of cases) |
| Renal insufficiency | Occasional (present in 5%-29% of cases) |
| Thyroiditis | Occasional (present in 5%-29% of cases) |
| Type I |
Occasional (present in 5%-29% of cases) |
| Vitamin A deficiency | Occasional (present in 5%-29% of cases) |
| Vitamin D deficiency | Occasional (present in 5%-29% of cases) |
| Vitamin E deficiency | Occasional (present in 5%-29% of cases) |
| Vitamin K deficiency | Occasional (present in 5%-29% of cases) |
| Acute hepatic failure | Very rare (present in 1%-4% of cases) |
| Very rare (present in 1%-4% of cases) |
|
| Very rare (present in 1%-4% of cases) |
|
| Uveitis | Very rare (present in 1%-4% of cases) |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
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What causes the pain in primary sclerosing cholangitis? Does increased pain indicate a worsening of the disease and thus the need to re-do tests? See answer
