What is Farber Disease?
Farber lipogranulomatosis is a rare inherited condition affecting the breakdown and use of fats in the body. In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints.
This disorder is classified into seven types depending on characteristic features:
Type 1 is the most common form and is associated with the classic signs of abnormal voice, skin, and joint problems that begin a few months after birth.
Types 2 and 3 generally have less severe signs and symptoms than the other types.
Types 4 and 5 are associated with severe neurological problems.
What are the symptoms of Farber disease?
A hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen, painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay
How common is the disease?
Farber disease is a rare disorder.
Mutations in the ASAH1 gene lead to severe reduction in acid ceramidase. As a result, the enzyme cannot break down ceramides properly and they build up in the lysosomes of various cells, including in the lung, liver, colon, muscles used for movement, cartilage, and bone. The build-up of ceramides along with the accumulation of its fatty breakdown products in cells causes the signs and symptoms of Farber lipogranulomatosis.
This condition is inherited in an autosomal recessive pattern.
How is Farber disease diagnosed?
Farber disease is diagnosed based on thorough clinical evaluation, identification of characteristic symptoms and detailed patient history. Diagnosis is confirmed by determination of acid ceramidase activity, which is less than 6 percent of control values, measured in cultured skin fibroblasts, white blood cells or amniocytes. Another diagnostic approach is the demonstration of typical histopathologic features on biopsy, showing granulomas with macrophages containing lipid cytoplasmic inclusions in subcutaneous nodules or other tissues. Diagnosis can be confirmed by molecular genetic testing by detecting mutations in the ASAH1 gene. Prenatal diagnosis can be performed through chorionic villus biopsy or amniocentesis, if the mutations in the family are known.
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Dr Ashwin Dalal
Centre for DNA Fingerprinting and Diagnostics, Hyderabad