A Case of Fabry’s Disease of the Heart

Abstract

Some weeks ago we received an endomyocardial biopsy of a 48-years-old woman from the Klinikum Grosshadern, I. Medical Clinic, University of Munich. Dr. Bolte told us that this woman sufferred from sarcoidosis and asked us to look for signs of sarcoidosis in the heart. In semithin sections we found an intensive storage of PAS-positive material in nearly all heart muscle cells. In electron microscopy, the heart muscle cells contained round inclusions of up to 4 jum diameter consisting of concentric layers of electron-dense material. These globules were filled with myelin figure 4ike lamellae with a distance of about 6 nm. Similar inclusions were found in the endothelial cells and pericytes of the blood capillaries as well as in interstitial histiocytes and fibrocytes. Here, in contrast to the storage in the heart muscle, the material in some places was enveloped by a membrane. The distribution of the storage material indicates a general metabolic disturbance with storage of lipidie material. The type of inclusions indicates that here we deal with a case of Fabry’s disease (ceramide trihexo-sidosis). Since the patient had already left the hospital when this diagnosis was established, it is planned to recall her for further investigation, especially a skin biopsy, to confirm the diagnosis.