What is Fabry Disease?

 What is Fabry Disease and Fabry Disease Market?

Fabry disease (FD) is a devastating, progressive, inherited a condition caused by lysosomal dysfunction linked to chromosome X and mutations in the GLA gene located in chromosome Xq22.1 which encodes the alpha-galactosidase A (AGA) enzyme.

It is a multi-systemic and life-threatening condition which is one of the most common lysosomal storage diseases after the Gaucher Disease. It is characterized by specific neurological, cutaneous, renal, cardiovascular, cochleovestibular and cerebrovascular manifestations. The symptoms include chronic pain, usually a burning or tingling sensation in the hands and feet.

The pain sometimes briefly becomes more intense, requiring medication to bring it down to manageable levels. The pain can go away in adulthood, clusters of small, dark red spots in various locations on the skin, opaque corneas, resulting in cloudy-looking eyes and problems with eyesight, ringing in the ears, and hearing loss, a variety of gastrointestinal problems, decreased ability to sweat, and others.

The primary disease process starts in infancy, or even as early as in the fetal stage of development. In FD, lysosomal storage and cellular dysfunction are believed to trigger a cascade of events including cellular death, compromised energy metabolism, small vessel injury, K(Ca) channel dysfunction in endothelial cells, oxidative stress, impaired autophagosome maturation, tissue ischemia and, importantly, development of irreversible cardiac and renal tissue fibrosis.

Fabry Disease Classifications

Fabry Disease is classified as the Type 1 classic and Type 2 later-onset on the basis of phenotype of the disease. Both sub-types result in renal failure, and/or cardiac disease, and early death. Type 2 later-onset Fabry Disease is more frequent as compared to Type 1 classic Fabry Disease.

Fabry disease, at first can resemble normal growing pains or arthritis, but other symptoms start to appear with time. Fabry is confirmed with a test measuring levels of alpha-galactosidase. If low levels of the enzyme are found, genetic testing for the mutated GLA gene is done. Symptoms of the disorders like Schindler disease, Gaucher disease, Fucosidosis, Erythromelalgia can be similar to those of Fabry disease. Thus Comparisons may be useful for a differential diagnosis.

What is Fabry Disease Treatment?

Treatment of Fabry disease focuses on medications that improve the patient’s quality of life. Pain relievers, including Tegretol and Dilantin, are used to combat episodes of intense pain. Gastrointestinal problems may be remedied with pancrelipase. Heart and anti-clotting medications may be used along with pacemakers to prevent heart attacks. Angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) are used to combat kidney disease, enzyme replacement therapies that give patients forms of alpha-galactosidase, the enzyme they are missing.

Original Source: - Fabry Disease Market