Farber disease is an inherited disease that affects lipid storage, causing an excess amount of fat to build up in the joints, tissues and central nervous system.
There are many types of Farber disease, and they are categorized by severity and nervous system involvement. Symptoms of Farber disease may include difficulty breathing, developmental delay, a hoarse voice, a weak cry, and swollen and painful joints.
What causes Farber disease?
Farber disease is a genetic disease that occurs when variants in the ASAH1 gene cause the gene to not work properly. It is inherited in an autosomal recessive pattern, which means a person receives a gene with a pathogenic variant from both of their parents. When two carriers of an autosomal recessive gene have children, there is a 25% chance of having a child with this disease.
What are the symptoms of Farber disease?
Symptoms of Farber disease include arthritis, flexion contracture, a hoarse voice, atypical behavior, a cherry red spot on the macula, central nervous system foam cells, failure to thrive, global developmental delay, a hoarse cry, infantile muscular hypotonia and intellectual disability. Symptoms can also include periarticular subcutaneous nodules, which are located in the areas surrounding the joints. People with Farber disease may also have an atypical skeletal structure, atypical nervous and respiratory systems, and joint pain. Less common symptoms include brain atrophy, corneal opacity, developmental regression, dysphonia, feeding difficulties and macular degeneration. Symptoms get worse over time and lead to a shortened lifespan.
Are treatments available for Farber disease?
There is no specific treatment for Farber disease. Corticosteroids may be utilized to relieve pain. Bone marrow transplants may improve granulomas, which are small masses of inflamed tissue. Specific symptoms may be managed through medications and therapies.