Thrombotic Diathesis Combined With Connective Tissue Disease in a Chinese Teenage Male: A Case Report

ABSTRACT Thrombophilia is a pathological condition characterized by an increased propensity for blood clot formation and thromboembolism, resulting from various genetic or acquired factors. It can be classified as hereditary or acquired based on its etiology. Autoimmune diseases are common contributors to acquired thrombophilia. This article presents the clinical diagnosis and treatment of a patient with hereditary thrombophilia complicated by connective tissue disease, aiming to provide a reference for the clinical management of thrombophilia. A case of a 13‐year‐old male presenting with persistent pain and swelling in the left lower limb was investigated. Physical examination revealed there was swelling in the left lower limb with slightly elevated skin tension and warmth. Lower Limb Ultrasound: Thrombosis in the left calf muscle venous system. D‐dimer was elevated and antinuclear antibodies (ANA) and titers were Positive. Family history revealed several kinsfolk had thromboembolic diseases. The patient underwent hydroxychloroquine sulfate, warfarin sodium, and aspirin for maintenance therapy. 10 months later, the patient presented with deep vein thrombosis in the left sole again. Thrombosis is a multifactorial process, and patients may have multiple thrombophilic risk factors simultaneously. Etiological screening for thrombophilia should not focus solely on a single risk factor. If autoimmune diseases cannot fully explain the severity of thrombophilia, other risk factors should be further investigated. It is essential to appropriately determine the indications for genetic screening in patients with VTE and autoimmune diseases.