Angiokeratoma Corporis Diffusum, also known as Fabry disease, is a rare genetic disorder that predominantly affects males. It is characterized by the buildup of a fatty substance called globotriaosylceramide (Gb3 or GL-3) in various organs and tissues throughout the body.
Symptoms of Angiokeratoma Corporis Diffusum typically begin in childhood and worsen over time. They can vary widely among affected individuals but often include episodes of severe pain, particularly in the hands and feet. Other common signs and symptoms include skin lesions, such as small, dark red spots known as angiokeratomas, which may appear on the lower abdomen, buttocks, and thighs. These skin lesions can also be present on other areas of the body, including the mouth and genitals.
In addition to skin involvement, Angiokeratoma Corporis Diffusum can also affect numerous other organs, including the heart, kidneys, and central nervous system. Complications related to the disease can include heart and kidney problems, stroke, and hearing and visual impairment.
Angiokeratoma Corporis Diffusum is caused by mutations in the GLA gene, located on the X chromosome. This gene provides instructions for producing an enzyme called alpha-galactosidase A, which is involved in the breakdown of Gb3. Mutations in the GLA gene lead to a deficiency or complete absence of alpha-galactosidase A, resulting in the accumulation of Gb3 in various tissues.
Treatment options for Angiokeratoma Corporis Diffusum often involve managing symptoms and complications. Enzyme replacement therapy (ERT) is available to replace the missing or deficient alpha-galactosidase A enzyme. Additional therapies may
