Farber's Disease: Infantile Type 1 and FD Type 4

Definition

Farber's Disease

Farber disease (Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis," ASAH1-related disorders) is a sporadic, progressive, autosomal recessive lysosomal storage disease caused by a lack of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of ceramide in the lysosomes of the cells, leading to the signs and symptoms of this disorder.

Main Digest

Alternate Names: Acid Ceramidase Deficiency, Disseminated Lipogranulomatosis, Farber's Syndrome

Farber's disease (FD) is included in a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.

The U.S. Social Security Administration (SSA) has included Farber's Disease (FD) - Infantile as a Compassionate Allowance to expedite a disability claim.

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Farber's disease (FD) is included in a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. The disorder is caused by tissue accumulation of the lipid ceramide due to deficient activity of lysosomal ceramidase.

Infantile Type 1 and FD Type 4

Signs are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Other signs may include demonstration/findings of subcutaneous nodules (lumps/masses under the skin), joint limitation, and laryngeal (vocal chord) involvement. The lungs are affected and individuals may require the insertion of breathing tube (tracheostomy). In severe cases, the liver and spleen are enlarged.

The disease occurs when both parents carry and pass on the defective gene that regulates the lipid-protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

Diagnosis is confirmed by laboratory findings of acid ceramidase activity, which is less than 6 percent of control values, measured in cultured skin fibroblasts (connective tissue cells), white blood cells or amniocytes.

Another diagnostic approach is the clinical findings (evidence) on biopsy, showing granulomas with macrophages containing lipid cytoplasmic inclusions in subcutaneous nodules (masses or lumps under the skin) or other tissues. Laboratory confirmation of ceramide accumulation in tissues by chromatography or mass spectrometry is also an established diagnostic test for FD.

Currently there is no specific treatment for FD. Corticosteroids can help relieve pain. Nodes can be treated with bone marrow transplants, in certain instances, or may be surgically reduced or removed. There is no treatment for the progressive neurologic and developmental impairments.

Limited neurodevelopment in the first year of life. Most children with Infantile FD type 1 and FD type 4 die by age 2, usually from lung disease.

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