A Rare Genetic Disorder of Protein C Deficiency Induced Acute Ischemic Stroke in Young Adult

The liver produces the 62-kD vitamin K-dependent glycoprotein known as protein C (PC) as a zymogen. PC is activated by attaching to the thrombin-thrombomodulin complex, with protein S (PS) serving as a cofactor. Among its numerous functions, PC functions as a naturally occurring anticoagulant. A homozygous or heterozygous deficiency places the individual at risk for thrombosis, specifically venous thromboembolism, and causes major events like myocardial infarction (MI), deep vein thrombosis, pulmonary embolism, or a fatal stroke. A 21yrs male patient came to ER department with the chief complaints of Giddiness, Chest pain, seizures, and 2 episodes of vomiting with elevated blood pressure 200/140 mmhg. He had no past medical history; Patient CT scan of brain showed normal findings But MRI revealed acute infarcts in brain. Also reduced protein c functional activity, Normal Protein S, Increased WBC count and increased APTT levels. All other laboratory investigations were normal. Patient was treated with antihypertensive, Antiplatelet, Anti-hyperlipidaemias drugs, eventually patient vitals became normal and discharged.