The many signs and symptoms of Fabry disease vary from signs that usually do not have physical health impacts such as angiokeratoma (skin lesions) and corneal opacities (whorling or streak-like cloudy patterns in the eye) to very severe symptoms such as heart attacks, strokes, and kidney failure. While the age of onset, progression, severity, and health implications can vary significantly, the symptoms listed here are very common for most individuals with Fabry disease.
The many common symptoms of Fabry disease include:
- Numbness, tingling, burning or other abnormal sensations especially in the hands and feet (acroparesthesias)
- Pain attacks/crises: pain attacks which can last from short to very long durations and can be mild to disabling. These attacks may be accompanied by body aches, fever, and fatigue.
- Fevers often resulting in clinic/hospital visits especially in but not limited to childhood
- Frequent overall body ache or discomfort
- Intolerance to physical activity
- Mild anemia
- Frequent and/or chronic fatigue
- Hot and cold temperature intolerance
- Reduced or absent sweating (hypohidrosis or anhidrosis respectively) often resulting in overheating with exertion
- Swelling (edema) in the lower legs, ankles and feet often without clinical symptoms of heart or kidney problems
- Corneal or lenticular opacities - streaked or whorled opaque/cloudy pattern on the cornea and sometimes on the lens of the eye (Corneal verticillata and Fabry cataracts)
- Small, sometimes clustered, slightly raised red or reddish-purple skin lesions (angiokeratoma). Often concentrated in but not limited to the bathing suit and trunk areas.
- Gastrointestinal issues - frequent mild to severe diarrhea, flatulence, bloating, stomach or intestinal pain and cramping
- Early satiety (feeling full sooner than normal or after eating less than usual), food intolerance, and difficulty gaining weight
- Obstructive or constrictive lung disease often evidenced by wheezing, chronic cough, shortness of breath or labored breathing (dyspnea), recurring bronchitis and fatigue (often diagnosed as obstructive pulmonary disease)
- Ringing in the ears (tinnitus), and progressive or sudden hearing loss
- Weakness, lightheadedness, dizziness, vertigo (spinning dizziness) and headaches from neurological damage, and other cerebrovascular disease impacts
- Peripheral neuropathy (damage to the peripheral nervous system) which causes or exacerbates many other Fabry disease symptoms
- Transient Ischemic Attacks (TIAs), usually referred to as mini-strokes, that are usually short in duration
- Strokes (often at an abnormally early age)
- Impaired kidney function and kidney failure usually without diabetes
- Kidney Dialysis and Transplant
- Heart complications such as arrhythmias (generally abnormalities in the heart's rate or rhythm including atrial fibrillation); left ventricular hypertrophy (LVH)/enlarged heart often without high blood pressure; and malfunctioning heart valves
- Heart attacks and heart failure
For more detailed information please see the Fabry Disease Symptoms descriptions in in the pull-down menu buttons and in the Fabry Disese Symptoms module midway down the home page.