[Fabry disease--a diagnostic and therapeutic challenge]

Abstract

Background: Fabry disease, unlike most other metabolic diseases, is prone to familiar and regional clustering because of X-linked inheritance and normal fertility in affected men. Affected individuals can be offered intravenous enzyme replacement therapy.

Materials and methods: In two counties in western Norway there are 41 affected individuals, giving a minimum prevalence of the disease of 1 in 17,000. The patient material is briefly presented. We discuss some of the administrative and financial challenges that this type of diseases present in our public health system.

Results and interpretation: The great variability in disease expression and severity within and between families delays the diagnosis and necessitates a broad clinical follow up of affected persons. A false diagnosis is often made (e.g. MS, irritable colon, a psychiatric disorder, idiopathic hypertrophic cardiomyopathy, or kidney failure). The follow up regime is briefly described, with special emphasis on the practical and financial implications of enzyme replacement therapy in Norway.