Signs and Symptoms of Fabry Disease
Fabry disease manifests variably
Fabry disease is a progressive, multisystemic disease1 with serious symptoms and patterns of presentation.2 These include2:
- Cardiac disease, such as left ventricular hypertrophy, valvular disease, and rhythm disturbances
- Cerebrovascular symptoms, including dizziness or vertigo, transient ischemic attacks, and stroke
- Renal disease, typically requiring dialysis or transplantation after prolonged disease
Other early signs of Fabry disease include3:
Neurological symptoms
- Pain3
- Acroparesthesia (abnormal tingling or burning sensation in the extremities)3
- Episodic “Fabry crises” of acute pain (often in hands and feet, accompanied by fever that may last hours to days)2,3
Dermatological conditions
- Angiokeratomas (reddish-purple, non-blanching maculopapular lesions)2,3
Gastrointestinal symptoms
- Abdominal pain1,2,4
- Bloating4
- Diarrhea1,2,4
- Constipation1
- Early satiety4
Other signs and symptoms
- Hypohidrosis (too little sweat, affecting regulation of body temperature)2,3
- Heat and/or cold intolerance2
- Exercise intolerance2
- Corneal verticillata (whorls in the cornea)2,3