Severe lymphatic microangiopathy in Fabry disease.
BACKGROUND
Lymphedema has been described in a few cases of Fabry disease. The etiology of lymphedema in Fabry disease is unknown. The aim of the study was to evaluate morphology and function of lymphatic microvessels in this disease.


RESULTS
In five male patients with Fabry disease, the initial lymphatic microvessels of the skin were studied in vivo, using a nearly atraumatic technique of fluorescence microlymphography and measurement of lymph capillary pressure. In addition, five female patients heterozygous for Fabry disease and 12 healthy controls were studied. The maximum spread of the fluorescent macromolecular dye into the network of superficial skin lymphatics was increased in the three male patients presenting with lymphedema (25, 26, and 45 mm, respectively). In the two male patients without swollen legs, the maximum spread of the dye was 3 and 7 mm, respectively, and in the female patients 8.8 mm (range, 4-17 mm), whereas in the healthy controls it reached only 4.3 mm (range, 1-7 mm). Fragmentation of the microlymphatic network was found in all patients, but not in controls. In controls, the diameter of the microvessels varied in a very narrow range (45-75 microm); in patients, the range was 15-150 microm. In patients with lymphedema, microlymphatic hypertension was present.


CONCLUSIONS
In patients with Fabry disease severe structural and functional changes of the initial lymphatics of the skin are present.
Amann-Vesti
Beatrice R
BR
University Hospital of Zurich, Zurich, Switzerland. beatrice.amann@usz.ch
Gitzelmann
Gabriele
G
Widmer
Urs
U
Bosshard
Nils U
NU
Steinmann
Beat
B
Koppensteiner
Renate
R
D000293:Adolescent; D000328:Adult; D002196:Capillaries / Q000473:pathology; D004729:Endothelium, Lymphatic / Q000473:pathology; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008196:Lymph; D042601:Lymphatic Vessels / Q000473:pathology*; D008209:Lymphedema / Q000473:pathology*; D008220:Lymphography / Q000379:methods; D008297:Male; D008833:Microcirculation; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D011312:Pressure; D012737:Sex Factors; D012867:Skin / Q000473:pathology