Hereditary thrombophiliaand chronic demyelinating polyneuropathy:a clinical case

Abstract

Summary. Thrombophilia is characterized by an increased predisposition of the blood to abnormal intravascular clotting, resulting from
both hereditary and/or acquired risk factors, which can lead to venous or arterial thrombosis and embolism. Here we present a clinical
case of a 45‑year-old patient with a combination of multifactorial thrombophilia (hereditary — Leiden mutation; hematogenous — hyperhomocysteinemia and elevated coagulation factors level) and chronic inflammatory demyelinating polyneuropathy (CIDP). The clinical
presentation encompassed recurrent deep vein thrombosis in the lower extremities, progressive neurological decline marked by sensory
deficits, sensory ataxia, and neuropathic pain syndrome. A particularly challenging aspect was the differential diagnosis between CIDP
manifestations and potential ischemic complications linked to thrombophilia. The case underscores the necessity for a deeper comprehension of the pathogenetic interplay between thrombophilia and neurological disorders, as well as the importance of a personalized
approach to diagnosing and treating patients with combined pathologies, incorporating a comprehensive analysis of genetic, hematological, and neurological data.

For citation: Noskov K.K., Bespalova A.V., Gritcenko T.A., Borisova K.V., Davydkin I.L. Hereditary thrombophilia and chronic demyelinating
polyneuropathy: a clinical case. Tromboz, gemostaz i reologiya. 2025;(3):71–76. (In Russ.).

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