Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient

Fabry disease, also known as Anderson-Fabry disease, is a rare, X-linked lysosomal storage disease caused by mutations in the GLA (galactosidase alpha) gene, which causes a deficiency in the action of the alpha-galactosidase A enzyme. This often leads to an accumulation of globotriaosylceramide and globotriaosyl-sphingosine in various tissues, allowing clinical presentations of Fabry disease to be quite diverse among patients. This report demonstrates a case of a 31-year-old woman with a unique presentation of Fabry disease. The patient presented to the emergency room with two days of cough and hemoptysis. A CT scan revealed a 2.5 cm x 2.6 cm x 2.4 cm lung nodule in the right middle lobe. This nodule was eventually removed and sent for pathological examination, where it was determined to be a likely manifestation of Fabry disease. Genetic testing confirmed the diagnosis of a GLA c.988C>G, p. Q330E variant classified as likely pathogenic. Due to the absence of other signs or symptoms of Fabry disease after further workup, the patient was recommended for biannual follow-up. This case demonstrates a unique presentation of Fabry disease that may be helpful for clinicians when determining the etiology of lung nodules, especially in patients with a family history of the disease. Furthermore, recognition of nodule formation as a potential presentation of Fabry disease is important for effective diagnosis and long-term management of patients with the disease as a whole.