A Heterozygous Variant in HABP2 Causing Increased Risk of Arterial and Venous Thrombosis in a Young Male: Diagnostic and Therapeutic Challenges.

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL

Case Reports in Medicine Pub Date : 2025-09-25 eCollection Date: 2025-01-01 DOI:10.1155/carm/1490289

Salim Al-Busaidi, Nasiba Al-Maqrashi, Khalid Al-Thihli, Bader Al Rawahi, Hatem Al Farhan, Abdullah M Al Alawi

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Abstract

Thrombosis is a major clinical issue, affecting venous and arterial circulation, increasing morbidity and mortality. While thrombophilia syndromes are established, new genetic polymorphisms in the hyaluronan binding protein 2 (HABP2) gene are not well understood. A 31-year-old man, a smoker, presented with multiple thrombotic events: ST-elevation myocardial infarction (STEMI), ischemic stroke, and left upper limb deep venous thrombosis. On arrival, he experienced ventricular fibrillation, needing resuscitation and percutaneous coronary intervention. During his hospital stay, he developed severe thrombocytopenia, rhabdomyolysis, and acute kidney injury. Extensive thrombophilia workup, including whole exome sequencing, revealed a heterozygous HABP2 variant linked to thrombotic risk. His condition required a multidisciplinary approach. Genetic findings informed antithrombotic treatment and emphasized family screening. More research is needed on HABP2 in thrombosis.

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HABP2杂合变异导致年轻男性动脉和静脉血栓形成风险增加：诊断和治疗挑战

血栓形成是主要的临床问题，影响静脉和动脉循环，增加发病率和死亡率。虽然血栓形成综合征已经建立，但透明质酸结合蛋白2 （HABP2）基因的新遗传多态性尚未得到很好的了解。31岁男性，吸烟者，表现为多重血栓事件：st段抬高型心肌梗死（STEMI），缺血性卒中和左上肢深静脉血栓形成。到达时，他出现心室颤动，需要复苏和经皮冠状动脉介入治疗。在住院期间，他出现了严重的血小板减少症、横纹肌溶解症和急性肾损伤。广泛的血栓病检查，包括全外显子组测序，揭示了与血栓风险相关的杂合HABP2变异。他的病情需要多学科治疗。遗传发现告知抗血栓治疗，并强调家庭筛查。HABP2在血栓形成中的作用有待进一步研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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