Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
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 NICE CG71 Gambarin et al. 2010.