A Heterozygous Variant in HABP2 Causing Increased Risk of Arterial and Venous Thrombosis in a Young Male: Diagnostic and Therapeutic Challenges
Year: 2025
Type: article
Study design: Case Report
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.
Source: Case Reports in Medicine
DOI: 10.1155/carm/1490289
Institution: Sultan Qaboos University Hospital
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $790
OpenAlex ID: W4414524469