What does Fabry mean?

People who have Fabry disease don’t have the enzymes that break down lipids or fats. These fats collect in blood vessels and tissue, raising the risk of heart attack, stroke and kidney failure. This genetic condition is passed from parent to child.

What does Fabry disease do to a person?

When you have Fabry disease, a certain type of fatty substance builds up in the cells of your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.

What is Angiokeratoma caused by?

What causes angiokeratoma? Angiokeratomas are caused by the dilation of blood vessels close to the surface of the skin. Solitary angiokeratomas are likely caused by injuries that previously happened in an area where they appear.

What does Fabry rash look like?

Skin rash, known as angiokeratoma: A dark, red, spotted skin rash appears. The rash is seen most densely between the navel (belly button) and the knees. Reduced ability to sweat: This is known as hypohidrosis. Pain in the hands and feet: Also known as acroparesthesia.

Where does the Angiokeratoma appear in Fabry disease?

Angiokeratomas in Fabry disease typically appear in childhood or adolescence and present as small red-to-black papules that most commonly affect the bathing trunk area (buttocks, groin, umbilicus, upper thighs), although almost any area of the body can be involved.

What kind of disease is Angiokeratoma corporis diffusum?

Angiokeratoma corporis diffusum (Fabry disease) is an X-linked inherited disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase.

Are there any diseases similar to Fabry disease?

Angiokeratoma of Fordyce, angiokeratoma of Mibelli, and angiokeratoma circumscriptum, are a few diseases that have cutaneous lesions similar to those seen in Fabry disease. None have the typical histologic or ultrastructural pathology of the Fabry lesion.

Is there a predilection for Fabry disease?

There is no known predilection of Fabry disease for any specific race or ethnicity. Because angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease, only men are fully afflicted. Heterozygous women, in addition to transmitting the condition, may develop symptoms.