[Fabry disease--a diagnostic and therapeutic challenge].

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.