Liječnički vjesnik, Vol. 136 No. 5-6, 2014.
Professional paper
FABRY DISEASE – GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENT
Marijan Merkler
Ivan Pećin
Iveta Šimić
Diana Muačević-Katanec
Nediljko Šućur
Željko Reiner
Abstract
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced by the staff of the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb, which is the Referral Expert Center for Rare and Metabolic Diseases of the Ministry of Health, Republic of Croatia. The first guidelines ever published in Croatia concerning a rare metabolic disease are presented. This document provides a short summary on Fabry disease, how to diagnose Fabry disease, management of patients with this disease, follow-up of the patients, and gives recommendations on therapy and genetic testing.
Keywords
Fabry disease – diagnosis, genetics, drug therapy; Alpha-galactosidase – therapeutic use; Isoenzymes – therapeutic use; Enzyme replacement therapy; Practice guidelines as topic; Croatia
Hrčak ID:
172603
URI
Publication date:
30.6.2014.
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