What is the prevalence of Farber disease?
How many people does Farber disease affect? Does it have the same prevalence in men and women? And in the different countries?
Farber disease is an extremely rare genetic disorder characterized by the accumulation of fatty substances in various tissues and organs. It is estimated that the prevalence of Farber disease is less than 1 in 100,000 individuals worldwide. This means that the condition is considered to be very uncommon. Farber disease is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. Due to its rarity, early diagnosis and appropriate management of Farber disease can be challenging.
Farber disease, also known as Farber's lipogranulomatosis, is an extremely rare and progressive genetic disorder that falls under the category of lysosomal storage diseases. It is caused by mutations in the ASAH1 gene, which leads to the accumulation of fatty substances called ceramides in various tissues and organs of the body.
The prevalence of Farber disease is exceptionally low, with only a few dozen cases reported worldwide. Due to its rarity, it is considered an orphan disease, affecting a very small number of individuals. The exact prevalence rate is difficult to determine accurately, as many cases may go undiagnosed or misdiagnosed.
Farber disease typically manifests in infancy or early childhood and affects multiple systems, including the central nervous system, joints, liver, and lungs. The symptoms can vary widely among affected individuals, but commonly include progressive motor and cognitive impairment, joint stiffness, painful nodules, and respiratory difficulties.
As of now, there is no cure for Farber disease, and treatment mainly focuses on managing the symptoms and improving the quality of life for patients. Research efforts are ongoing to better understand the disease and develop potential therapies.
