Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body, particularly around the joints.
Three classic signs are seen with Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other problems that can occur include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and intellectual disability.
Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features.
Type 1 is the most common form of this condition and is associated with the classic signs of voice, skin, and joint problems. Frequently, intellectual disability and lung disease have also been reported. Infants born with this form of the disorder usually survive only into early childhood.
Types 2 and 3 generally have milder signs and symptoms than the other types. Affected individuals have the three classic signs with mild, if any, intellectual disability and they generally live longer than those with type 1.
Types 4 and 5 are associated with severe intellectual disability. Type 4 usually causes life-threatening medical problems beginning in infancy due to massive fat deposits in the liver, spleen, lymph nodes, lungs, and thymus (a gland located behind the breastbone that plays an important role in immune system function). Type 5 is characterized by progressive central nervous system decline, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, irregular involuntary muscle contraction (myoclonus), and intellectual disability.
Types 6 and 7 have been seen in only one person each and involve other disorders in addition to Farber lipogranulomatosis.