What Are the Symptoms of Fabry Disease?
Fabry disease is caused by decreased activity of an enzyme called alpha-galactosidase A. This enzyme is supposed to break down fats that the body has made. When these fats cannot be broken down, they are stored in the lysosomes of certain types of cells. Disease symptoms and signs are caused by this storage and chemicals that are released from these cells. Signs and symptoms tend to present at distinct ages. Males typically present in childhood with hand pain temperature intolerance, and unexplained high fevers. Around puberty, they may develop flat or slightly raised vascular lesions, abdominal pain, nausea, diarrhea, and absence of sweating or diminished sweating. Life-threatening complications of kidney failure, heart disease, and strokes may present as early as the third to fourth decade. Without any medical intervention males with Fabry disease typically die in their mid forties. Modern medical interventions, such as kidney transplant and enzyme replacement therapy, may extend the
