When should I consider referring a patient with suspected Fabry disease to a specialist for further evaluation and management?

Consider referring a patient with suspected Fabry disease to a specialist for further evaluation and management when clinical features suggestive of Fabry disease are present, or when there is a confirmed or suspected diagnosis requiring expert assessment. This includes patients with characteristic symptoms such as neuropathic pain, angiokeratomas, corneal verticillata, unexplained renal impairment, or cardiac manifestations consistent with Fabry disease. Referral should be made to a specialist with expertise in inherited metabolic or lysosomal storage disorders, such as a clinical geneticist or a metabolic specialist, to confirm diagnosis through enzyme assays and genetic testing, and to initiate appropriate management including enzyme replacement therapy or chaperone therapy.

Although the provided UK guidelines do not explicitly address Fabry disease referral criteria, the general principle for rare genetic conditions is to refer patients to specialists when there is suspicion or confirmation of the disease to ensure accurate diagnosis and management. This approach aligns with the referral principles outlined for other genetic conditions like familial hypercholesterolaemia, where referral to specialist services is recommended upon clinical suspicion or diagnosis for further evaluation and management ¹.