Farber disease is a rare, inherited metabolic disorder that affects the body's ability to break down certain fats called lipids. It is caused by a deficiency of the enzyme acid ceramidase, which is responsible for breaking down lipids. Symptoms of Farber disease include joint pain, hoarseness, enlarged liver and spleen, and respiratory problems. If left untreated, Farber disease can lead to organ failure and death.

The symptoms of Farber disease include:

- Swelling and Pain in the joints
- Hoarseness and difficulty speaking
- Swallowing difficulties
- Enlarged liver and spleen
- Breathing difficulties
- Poor growth
- Skin lesions
- Recurrent infections
- Mental retardation
- Abnormalities of the eyes, including clouding of the cornea and cataracts

Farber disease is caused by mutations in the ASAH1 gene, which is responsible for producing the enzyme acid ceramidase. This enzyme is responsible for breaking down a fatty acid called ceramide, which is essential for normal cell function. Mutations in the ASAH1 gene lead to a deficiency of acid ceramidase, resulting in the accumulation of ceramide in cells throughout the body. This accumulation of ceramide leads to the symptoms of Farber disease.

The treatments for Farber disease include enzyme replacement therapy, bone marrow transplantation, and gene therapy. Enzyme replacement therapy involves intravenous infusions of the missing enzyme, ceramidase, to help break down the fatty substances that accumulate in the body. Bone marrow transplantation is a procedure in which healthy bone marrow cells are transplanted into the patient to replace the defective cells. Gene therapy is a newer treatment option that involves introducing a healthy gene into the patient's cells to replace the defective gene.

1. Genetic mutation: Farber disease is caused by a genetic mutation in the ASA gene, which is responsible for producing the enzyme lysosomal acid lipase (LAL).

2. Family history: Farber disease is an inherited disorder, so having a family history of the disease increases the risk of developing it.

3. Age: Farber disease is most commonly diagnosed in infants and young children.

At this time, there is no cure for Farber disease. However, there are medications available to help manage the symptoms. These medications include enzyme replacement therapy, non-steroidal anti-inflammatory drugs, and corticosteroids. Additionally, physical therapy, occupational therapy, and speech therapy may be recommended to help manage the symptoms.