ABSTRACT
Protein C (PC) is an essential vitamin K-dependent protein that regulates thrombosis and hemostasis in the body. A mutation in the PROC gene on chromosome 2q14.3 results in PC deficiency. The clinical presentation of PC deficiency can vary, ranging from a single vein thrombosis to disseminated intravascular coagulation, purpura fulminans, or even life-threatening complications such as sepsis. Here, we present a case of a 37-year-old female who was found to have acute portal vein thrombosis as an initial presentation of PC deficiency. She presented to the hospital with acute onset of abdominal pain associated with nausea, blood-streaked emesis, and bloody bowel movement.
ABSTRACT
Extrahepatic portal vein obstruction (EHPVO) is a rare condition characterized by the occlusion or narrowing of the portal vein outside the liver. We present a case report of a patient with EHPVO secondary to combined protein C and S deficiency and pancytopenia secondary to hypersplenism, highlighting the clinical presentation, diagnostic challenges, and management strategies. Early recognition of this condition and prompt initiation of appropriate treatment can prevent life-threatening complications such as variceal bleeding and portal hypertension. This case underscores the need for a high index of suspicion for inherited thrombophilias in patients presenting with portal vein thrombosis, particularly in the absence of traditional risk factors.
ABSTRACT
Diffusion weighted imaging (DWI) is a magnetic resonance imaging (MRI) non-contrast sequence that can indicate tissue ischemia or infarction. Adrenal infarct may present similarly to biliary or gallbladder pathologies, and the differential diagnosis during emergency work-up can be narrowed utilizing DWI sequences. In this paper, we describe the usefulness of DWI for urgent diagnosis in a case of non-hemorrhagic adrenal infarct of a pregnant female presenting with right upper quadrant pain. Although uncommon, adrenal infarct may occur in patients with hypercoagulability and localizing pain that is unexplained by other imaging modalities. We outline the imaging features of DWI in evaluating adrenal infarct as a safe and time effective application for patients with contraindications to imaging with ionizing radiation.
ABSTRACT
Peripartum cardiomyopathy (PPCM) is a rare cause of heart failure that occurs during the final month of pregnancy through about five months after delivery, without any other known cause, and it increases the risk of thromboembolic events by many folds. A 38-year-old female with a history of peripartum dilated cardiomyopathy was admitted to our hospital, one month after a cesarean section, for severe breathlessness. Examination revealed signs of global heart failure and right deep vein thrombosis. Pulmonary CT angiography revealed pulmonary embolism of the right pulmonary artery. The patient was treated by oral anticoagulation with acenocoumarol with all international normalized ratio (INR) values within the target range (2-3). One month later, she was admitted to the emergency department with acute dyspnea and superior vena cava syndrome. Thoracic CT angiogram showed bilateral pulmonary emboli associated with an extensive deep vein thrombosis of both internal jugular veins, sigmoid sinuses, subclavian veins, innominate venous trunks, and the origin of the superior vena cava without any lesion suspected of malignancy. The thrombophilia screen performed six weeks after the suspension of vitamin K antagonists (VKAs) revealed severe deficiencies of protein C and protein S. In this report, we present the first case of recurrence of fatal thromboembolic events under well-conducted oral anticoagulation in a patient with PPCM associated with severe protein C and protein S deficiencies.