A Heterozygous Variant in <i>HABP2</i> Causing Increased Risk of Arterial and Venous Thrombosis in a Young Male: Diagnostic and Therapeutic Challenges
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 <i>hyaluronan binding protein 2 (HABP2)</i> 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 <i>HABP2</i> 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 <i>HABP2</i> in thrombosis.
Authors
- Abdullah Mohammed Al Alawi (ORCID: https://orcid.org/0000-0003-2077-7186)
- Bader Al Rawahi (ORCID: https://orcid.org/0000-0001-5821-1087)
- Khalid Al‐Thihli (ORCID: https://orcid.org/0000-0001-7518-4615)
- Salim Al-Busaidi
- Nasiba Al-Maqrashi
- Hatem Farhan
Institutions
- Oman Medical College (OM)
- Sultan Qaboos University Hospital (OM)
Publication Details
- Journal
- Case Reports in Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/carm/1490289
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00