Fabry's disease is a very rare genetic condition caused by an enzyme deficiency inside lysosomes, which are the digestive organs of cells. This leads to the buildup of waste by products in these cells, and has multiple effects on the body. The symptoms of the disorder usually begin in childhood but may not be noticed until later on, and they include typically skin rashes
, nerve pain, problems with vision, kidney problems and, later in life, heart problems. The disorder is "X-linked" which means that it is inherited and most occurs just in males. Females may be carriers and may have mild symptoms, but they are unlikely to have the overt condition.
Your initial genetics appointment for suspected Fabry's disease will involve a very detailed history taking focused on symptoms and especially family history of medical problems. Also, there will be a detailed physical examination, including examining the eyes and skin. You will probably need a formal eye examination by an eye doctor
. They will probably also look for evidence of kidney problems, starting of course with a simple urine sample. Following this, specific blood tests and maybe a skin biopsy
will be used to confirm the diagnosis.