The diagnosis of Fabry disease in one family member may lead to the evaluation and diagnosis in other relatives. Because the disease is genetic, it is important that you contact your relatives and notify them to be checked for Fabry.

Blood tests confirm the level of α‐Gal A enzyme in the blood or biopsy. Care should be exercised in diagnosing females as the level of the α‐Gal A enzyme is not a true indicator of Fabry disease, and they should be checked for the specific gene mutation.

A medical professional can help you understand the inheritance pattern in your family.

The signs and symptoms of Fabry are often mistaken for other conditions, including:

  • Multiple sclerosis (especially in women)
  • Rheumatic fever
  • Raynaud syndrome
  • Arthritis
  • Irritable bowel syndrome
  • Erythromelalgia
  • Crohn’s disease
  • Ménière syndrome