A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report

Abstract

Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-galactosidase A deficiency resulting in globotriaosylceramide storage within cells. Subsequently, various organ systems are involved, clinically the most important are kidneys, the heart, and the peripheral and central nervous systems. Although obstructive lung disease is a common pathological finding in Fabry disease, pulmonary involvement is a clinically disregarded feature. Case Presentation. We report a patient with a diagnosis of chronic obstructive pulmonary disease (COPD) who received a single lung transplant in 2007. Later, a kidney biopsy revealed the diagnosis of Fabry disease, which was confirmed by enzymatic and genetic testing. Ultrastructural changes in a native lung biopsy were consistent with the diagnosis. Although the association of a lung transplant and Fabry disease appears far-fetched on first sight, respiratory impairment cannot be denied in Fabry disease. Conclusion. With this case presentation, we would like to stimulate discussion about rare differential diagnoses hidden beneath widespread disease and that a correct diagnosis is the base of an optimal treatment strategy for each patient. Overall, the patient might have benefited from specific enzyme replacement therapy, especially in view of the chronic kidney disease.

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

“…A non-invasive diagnostic tool, such as lysoGb3 measurement, to discern neutral GLA variants from variants that are associated with a non-classical FD phenotype, is therefore warranted. Several other reports support our finding that lysoGb3 is increased in biopsy confirmed non-classical FD 29–34 46. Vice versa, all subjects in whom a diagnosis of FD was excluded had normal lysoGb3 values.…”

Fabry disease, respiratory symptoms, and airway limitation – a systematic review

“…Electron microscopy of induced sputum and of lung biopsy showed ‘myeloid-like’ inclusions in ciliated cells ( 18 ); and lamellar inclusion bodies (Zebra bodies) in the cytoplasm of ciliated bronchial epithelial cells ( 6 , 10 ), in bronchiolar/arteriolar smooth muscle ( 4 , 5 ), in endothelia of capillaries ( 5 ) and arterioles ( 4 ), veins and arteries ( 27 ), as well as in smooth muscle cells of the arteries ( 5 , 27 ).…”

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

“…The electron microscopy analysis of sputum and lung biopsy samples from FD patients, revealed the presence of “myeloid-like” inclusions within ciliated cells ( 52 ). Additionally, lamellar inclusion bodies known as “Zebra bodies” were detected within the cytoplasm of ciliated bronchial epithelial cells ( 53 ).…”