Fabry Disease in a Female: A Unique Case Highlighting the Variability in Clinical Presentation

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This enzyme deficiency results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing multi-systemic manifestations. This case report presents a rare instance of Fabry disease in a 32-year-old female patient, highlighting the unique clinical presentation with multisystem involvement. Fabry disease is an X-linked lysosomal storage disorder that primarily affects males, while females are often considered asymptomatic carriers. Heterozygous females can exhibit a broad spectrum of clinical manifestations, varying from a complete absence of symptoms to the full expression of the disease. The patient presented with a complex array of symptoms, including progressive dyspnea, fever, headache, lower limb pain, and periorbital edema, accompanied by a history of hypertension and chronic kidney disease (CKD). Laboratory investigations revealed severe anemia, elevated renal function parameters, and significant proteinuria. A renal biopsy confirmed the diagnosis of Fabry disease, based on the characteristic histopathological findings of widespread glomerular and segmental tuft sclerosis, as well as podocyte enlargement with fine vacuolization. The patient was managed with a combination of sequential hemodialysis and diuretic therapy. This case is a rare and unique example of Fabry disease in a female patient, with symptoms affecting multiple organ systems, including the renal, cardiovascular, and neurological systems. It underscores the importance of maintaining a high index of suspicion for Fabry disease, even in female patients, and the need for a comprehensive diagnostic approach to ensure timely diagnosis and appropriate management. Early recognition of this rare condition in females is crucial for the implementation of targeted therapies, such as enzyme replacement therapy and oral chaperone therapy, to prevent the progression of multi-organ damage.