Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report

TL;DR

A man with chronic cough was later diagnosed with Fabry disease, a rare genetic disorder, highlighting the importance of considering this condition in similar cases.

Contribution

This case report presents chronic cough as a rare initial symptom of Fabry disease, emphasizing its potential diagnostic significance.

Findings

Chronic cough can be an early sign of pulmonary involvement in Fabry disease.

The patient had elevated creatinine levels and a family history of Fabry disease, leading to diagnosis.

Despite treatment, the patient's cough did not improve, suggesting persistent pulmonary involvement.

Abstract

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary involvement is one of the possible manifestations of FD, but it is often overlooked and is rarely the only clinical presentation. Chronic cough is an uncommon and nonspecific symptom of pulmonary involvement in FD. Here, we report a case of a 46-year-old non-smoker, Caucasian male who presented to a general practitioner with chronic cough without a significant medical history. The patient was referred to our hospital after routine blood tests revealed elevated creatinine levels. As his cousin had end-stage chronic kidney disease due to FD, we performed a fluorometric assay of the alpha-galactosidase A activity in dried blood spots, which showed abnormal results. Eventually, genetic testing revealed a mutation in the GLA gene. As respiratory symptoms persisted during hospitalization, spirometry was performed, revealing an obstructive pattern. Furthermore, bronchoscopy showed nonspecific bronchial inflammation. Additionally, end-stage renal disease and hypertrophic cardiomyopathy were diagnosed. The patient was put on enzyme replacement therapy, and underwent kidney transplantation. Despite all these procedures, we did not observe any improvement in his cough. This case highlights that chronic cough may be an important clue for pulmonary involvement in FD and should prompt further evaluation in patients with other features suggestive of FD. Early diagnosis and treatment are essential for improving the outcome and quality of life in patients with FD.

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