Pronunciation: [fˈabɹi] (IPA) 
The correct spelling of the word "Fabry" is /ˈfæbri/. The first sound is the "f" sound, followed by the short "a" sound pronounced as "æ". The consonant blend "br" has a distinct sound pronounced as "bri". To end the word, the final sound is pronounced as "ee" or "i" represented by the letter "y". The proper use of IPA phonetic transcription ensures clarity and accuracy in spelling and pronunciation.
Fabry is a rare genetic disorder known as Fabry disease, named after Johannes Fabry, the German dermatologist who first described it. It is an inherited condition characterized by the deficiency or absence of an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a specific type of fat called globotriaosylceramide (GL-3) in the body.
The deficiency of the alpha-galactosidase A enzyme causes an accumulation of GL-3 in various cells, particularly in the blood vessels, kidneys, heart, and nervous system. This accumulation leads to the development of various symptoms and health complications related to these organs.
Common signs and symptoms of Fabry disease include skin rashes, such as angiokeratomas, which are small red or purple spots appearing on the skin; pain and numbness in the extremities, known as acroparesthesia; gastrointestinal issues like diarrhea and abdominal pain; and hearing and vision problems. Additionally, Fabry disease can also cause kidney dysfunction, heart problems, strokes, and neurological issues.
Management of Fabry disease often includes enzyme replacement therapy, which involves intravenous infusions of the missing enzyme. This treatment can help reduce the accumulation of GL-3 in cells, relieve symptoms, and slow down disease progression. Additionally, medications may be prescribed to manage specific symptoms or complications, such as pain medications or medications to control blood pressure.
Due to its rarity and complex nature, individuals with Fabry disease often require the involvement of multiple specialists, including geneticists, dermatologists, neurologists, cardiologists, and nephrologists. Genetic counseling is recommended for individuals and families affected by Fabry disease to better understand the inheritance pattern and potential risks.
