ABSTRACT
Sensorineural hearing loss (SSHL) with a sudden onset is frequently encountered as a medical emergency in the ear, nose and throat (ENT) practice. The exact pathophysiology of the disease remains unknown, with the most likely etiologies being viral infection, inflammation, drug toxicity, trauma, or autoimmune response. Even though thrombophilia and cerebrovascular complications may lead, among others, to sudden neurosensorial hearing loss, its diagnosis is most often made following the onset of thrombotic complications. A case of a young female patient with unknown congenital hypercoagulation status complicated with lateral sinus thrombosis and unilateral drug-induced reversible hearing loss is presented. Molecular testing confirmed the diagnosis of genetic thrombophilia, due to the homozygous V Leiden, homozygous MTHFR A1298C, and heterozygous MTHFR C677T mutations. Although hereditary thrombophilia is a well-known topic in medical practice, current guidelines require continuous improvement, especially among patients treated in departments where this pathology is more difficult to recognize and manage.
