Nailfold capillaroscopy: Specific features in Fabry disease.
OBJECTIVE
Fabry disease is a rare X-linked disorder caused by deficiency of alpha-galactosidase A. The metabolic defect results in the progressive accumulation of globotriaosylceramide within vascular cells leading to renal, cardiac and cerebrovascular manifestations. The aim of this study was to evaluate nailfold capillaroscopy as a non-invasive diagnostic tool in Fabry disease and to characterize morphological and functional changes of the capillaries in vivo.


METHODS
Twenty-five consecutive patients with Fabry disease (17 males) without enzyme-replacement therapy had been studied by fluorescence nailfold capillaroscopy. Macrocirculation of digital arteries was tested by digital pulse volume recording and patients had been asked about the presence of Raynaud phenomenon.


RESULTS
Significant more bushy capillaries and clusters were present in Fabry patients (72%) compared to healthy controls (10%). No avascular fields had been seen, and in only one patient atypical architecture and in another one a giant capillary was present. Enhanced natrium-fluorescein diffusion into the pericapillary area has been observed in three male patients. Six patients (one female) reported Raynaud phenomenon of all fingers.


CONCLUSIONS
In Fabry disease morphological and functional microangiopathy of nailfold capillaries is present. Furthermore, these new findings might explain, at least in part, the unusual high frequency of Raynaud phenomenon in Fabry patients, which has not been described so far. Our data suggest that capillaroscopy might be used as an additional non-invasive diagnostic tool for Fabry disease.
Division of Angiology, Department of Internal Medicine, University Hospital of Zurich, Zurich, Switzerland.
Jan S
JS
Wasik
Roger W
RW
Simon
Thomas
T
Meier
Beat
B
Steinmann
Beatrice R
BR
Amann-Vesti
D000328:Adult; D000368:Aged; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D020678:Microscopic Angioscopy / Q000379:methods*; D008875:Middle Aged; D009262:Nails / Q000098:blood supply / Q000473:pathology; D011928:Raynaud Disease / Q000209:etiology; D051437:Renal Insufficiency / Q000209:etiology