Systemic Congestion in a Young Patient: A Case of a Rare Infiltrative Disease

Abstract

We report the case of a 26 year old male with no known chronic medical illness who presented to the emergency department with progressive shortness of breath and generalized body swelling over two weeks. Symptoms began gradually with reduced exercise tolerance and mild lower limb edema, followed by worsening breathlessness and abdominal distension. He had no history of chest pain, fever, recent infection, or prior cardiac or renal disease. There was no relevant family history of cardiomyopathy or inherited disorders. On arrival, he was hemodynamically stable but clinically congested with elevated jugular venous pressure, bilateral basal crackles, peripheral edema, and ascites. Point of care ultrasound demonstrated a dilated inferior vena cava with minimal respiratory variation and abdominal fluid, while chest radiography showed cardiomegaly with pulmonary congestion. Initial investigations showed mild renal impairment and elevated natriuretic peptides, supporting a congestive state, while electrocardiography revealed sinus tachycardia without ischemic changes. Given the patient’s young age and severity of presentation, the findings were considered atypical for conventional heart failure, raising suspicion for an underlying cardiomyopathy, particularly an infiltrative or storage disorder. The patient was started on intravenous diuretics with fluid and salt restriction, resulting in partial clinical improvement, although significant congestion persisted. Further evaluation at a tertiary center included transthoracic echocardiography and cardiac magnetic resonance imaging, which demonstrated features consistent with an infiltrative cardiomyopathy. Subsequent metabolic and genetic testing confirmed Fabry disease as the underlying diagnosis. Enzyme assays showed reduced alpha galactosidase A activity, and genetic analysis confirmed the diagnosis. This case highlights an uncommon presentation of Fabry disease manifesting as severe systemic congestion in a young adult with no prior medical history. The presence of marked jugular venous distension, dilated inferior vena cava, cardiomegaly, and ascites provided important early clues to significant cardiac involvement. Early recognition of an atypical pattern of heart failure in a young patient was essential in prompting further evaluation for infiltrative disease. The case emphasizes the importance of considering Fabry disease in young patients presenting with unexplained congestion and cardiomyopathy. Early use of bedside ultrasound and echocardiography played a key role in identifying the severity of volume overload and guiding further investigation. Confirmation of the diagnosis allowed initiation of disease specific therapy, including consideration of enzyme replacement treatment. In conclusion, Fabry disease should be considered in the differential diagnosis of young patients presenting with severe systemic congestion, particularly when imaging and clinical findings suggest cardiomyopathy without conventional risk factors. Early diagnosis is essential to allow timely treatment and prevent progressive organ damage.