Farber's disease

What are the symptoms of Farber's disease and how might Farber's disease be treated?

Farber's disease is a group of inherited metabolic disorders , known as lipid storage diseases, in which an excess amount of fat builds up in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Symptoms typically appear in the first few weeks of life and may include the following: difficulty swallowing, hoarseness, arthritis, swollen lymph nodes, swollen and painful joints, lumps of fat underneath the skin (and sometimes in other parts of the body), shortening of muscles or tendons around the joints, difficulty breathing, vomiting, and developmental delay. In severe cases, the liver and spleen are enlarged. There are 7 types, each with slightly different characteristics. Types 4 and 5 are generally associated with severe neurological problems. There is currently no specific treatment for Farber's disease. Corticosteroids can be given to help with pain. Individuals with difficulty breathing may require a breathing tube. In some cases, surgery or a bone marrow transplant may be helpful.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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