Farber’s Disease

Definition:

Farber’s Disease, also known as Farber lipogranulomatosis, is an extremely rare and progressive genetic disorder characterized by the abnormal accumulation of lipids (fats) in various tissues throughout the body. It is inherited in an autosomal recessive manner, meaning the affected individual must inherit two copies of the defective gene, one from each parent, to develop the disease.

Subtypes:

1. Classic Farber’s Disease: The most common and severe form of Farber’s Disease, which typically presents in infancy or early childhood. It is characterized by a triad of symptoms, including joint deformities, hoarseness due to vocal cord involvement, and the presence of subcutaneous nodules.

2. Intermediate Farber’s Disease: A less severe form of the disease, which usually presents during childhood or adolescence. Individuals with intermediate Farber’s Disease may exhibit a combination of the classic symptoms along with a slower disease progression and a wider range of clinical manifestations.

3. Atypical Farber’s Disease: A rare variation of the disease that presents in adulthood. Symptoms may be milder or more variable than those seen in the classic or intermediate forms, making diagnosis more challenging.

Clinical Features:

Farber’s Disease affects multiple organs and systems, leading to a diverse range of clinical features, including:

  • Progressive joint stiffness and contractures
  • Painful nodules under the skin
  • Enlarged liver and spleen (hepatosplenomegaly)
  • Hoarseness or laryngeal involvement
  • Respiratory difficulties
  • Failure to thrive
  • Neurological deterioration

Treatment:

Currently, there is no cure for Farber’s Disease. Treatment options primarily focus on managing the symptoms and improving the individual’s quality of life. These may include:

  • Pain management through medications
  • Physical and occupational therapy to maintain joint mobility
  • Surgical interventions to address contractures or other complications
  • Supportive care to manage respiratory and nutritional needs

Prognosis:

The prognosis for individuals with Farber’s Disease varies depending on the disease subtype and the extent of organ involvement. In general, it is a severe and progressive condition with a poor prognosis. The life expectancy for affected individuals is often limited, and many cases result in early childhood mortality.