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

Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an -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. 1. Introduction Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an -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. However, each patient presents with a unique pattern of organ involvement, degree of clinical symptoms, and severity of organ damage [1]. Although obstructive lung disease, mainly of the small airway system, is a common pathological finding in Fabry disease [2–5], pulmonary involvement is not widely appreciated by clinicians. Respiratory symptoms may be falsely interpreted as arising from cardiac dysfunction [6], and lung failure due to Fabry disease has not been reported so far. In contrast to the respiratory system, patients with Fabry disease regularly develop organ failure predominantly involving kidneys and, less common, the heart. Renal transplantation has proven beneficial; however, recurrence of the disease in the transplant may occur [7]. Despite the fact that development of hypertrophic cardiomyopathy is considered a typical pathology and cardiac events are a leading cause of death