Fabry disease is a rare inherited lysosomal storage disorder that results from the accumulation of a specific type of fat in the body’s cells, called globotriaosyceramide (GL-3).
This disease is caused by mutations in the GLA gene resulting in a deficiency of an essential enzyme named α-galactosidase A. This build-up of glycophosingolipids may cause clinical symptoms from early childhood onwards, affecting different parts of the body. Typical manifestations include episodes of neuropathic pain mainly in the hands and feet, skin rash, the decreased ability to sweat, a cloudiness appearing in the front part of the eye, gastrointestinal problems, ringing in the ears, hearing loss and general signs such as tiredness, dizziness, headache and nausea. Since FD is a progressive disorder it may lead to life-threatening complications such as, progressive kidney damage, heart attack and stroke. For this reason, FD can be classified in type 1 and 2. FD type 1 starts in childhood and is less common than type 2, which has a later onset and therefore a milder progress, affecting only heart or kidneays. Men are most commonly more severely affected. Treatment of Fabry disease involves enzyme replacement therapy (ERT), conventional medical treatment and adjunct therapies, including lifestyle modifications and prophylactic treatment. Other treatments under investigations consist of enzyme stabilizing agents and gene therapy solutions.
Source: Yuri A Zarate et al., Lancet (2008); National Fabry Disease Foundation; US National Library of Medicine, healthline.com