Homocystinuria Presenting as Deep Venous Thrombosis in a 14-Year-Old Boy – A Case Report
DOI:
https://doi.org/10.52206/jsmc.2025.15.3.1227Abstract
Background: Homocystinuria is a rare autosomal recessive metabolic disorder caused by a defect in the metabolism of homocysteine, leading to its elevated levels in the blood. Clinically, it presents with a wide range of symptoms including developmental delays, ocular abnormalities, skeletal deformities, and a predisposition to thromboembolic events. While deep venous thrombosis (DVT) is a well-recognized complication in hypercoagulable conditions, its association with homocystinuria is often overlooked.
Case Presentation: We report the case of a young individual diagnosed with homocystinuria who developed deep venous thrombosis. The patient presented with limb swelling and pain, and diagnostic imaging confirmed DVT. Further biochemical evaluation revealed markedly elevated homocysteine levels, leading to the diagnosis of homocystinuria.
Management & Results: Following diagnosis, the patient was initiated on treatment with vitamin B6, B12, and folate supplementation, which contributed to the reduction of homocysteine levels and improvement in clinical symptoms. Anticoagulation therapy was also administered to manage the acute thrombotic event.
Conclusion: This case highlights the importance of considering homocystinuria in the differential diagnosis of unexplained or recurrent venous thromboembolism, especially in younger patients. Early identification and targeted metabolic therapy can reduce the risk of serious thrombotic complications. Greater awareness of rare metabolic disorders like homocystinuria is essential in the evaluation of hypercoagulable states.
Keywords: Homocystinuria, Hyperhomocysteinemia, Inborn Errors of Metabolism, Venous Thrombosis, Vitamin B6.
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