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 severe symptoms such as lung disease, hearing loss, 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 many 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 strenuous physical activity
  • 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 trunk area.
  • Gastrointestinal issues - frequent mild to severe diarrhea and/or constipation, flatulence, 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 (primarily males)
  • 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 stroke like symptoms that are usually short in duration
  • Strokes (often at an abnormally early age)
  • Impaired kidney function and kidney failure often without diabetes
  • Proteinuria and micro-albuminuria
  • Kidney dialysis and transplant
  • Heart complications such as arrhythmias (abnormalities in the heart's rate or rhythm including atrial fibrillation); left ventricular hypertrophy (LVH)/enlarged heart (Hypertrophic Cardiomyopathy), and malfunctioning heart valves
  • Heart attacks and heart failure

For more detailed information, please see the Symptoms block in the Featured Programs section of the home page, the Fabry Disease Symptoms video on the NFDF YouTube channel at www.youtube.com/TheNFDF, and the Fabry Disease Symptoms presentation in the Featured Resources section below the Featured Programs section.

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