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Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.
Source: GARD Last updated on 05-01-20
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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