What are the key clinical features that should raise suspicion for Fabry disease in a patient?

Key clinical features that should raise suspicion for Fabry disease include:

• Early onset of unexplained neuropathic pain, particularly acroparesthesias (burning or tingling sensations in the hands and feet).
• Characteristic angiokeratomas, which are small, dark red skin lesions typically found in the bathing trunk area.
• Corneal verticillata (whorled corneal opacities) visible on slit-lamp examination without visual impairment.
• Progressive renal impairment or proteinuria without an obvious cause, especially in younger patients.
• Cardiac manifestations such as unexplained left ventricular hypertrophy, arrhythmias, or conduction abnormalities, often mimicking hypertrophic cardiomyopathy.
• History of cerebrovascular events (stroke or transient ischemic attacks) at a young age.
• Family history suggestive of X-linked inheritance or unexplained early deaths from renal, cardiac, or cerebrovascular disease.

These features should prompt consideration of Fabry disease and referral for enzymatic and genetic testing to confirm diagnosis ¹ (Gambarin et al., 2010).