Protein C deficiency is a rare genetic disorder caused by mutations in the protein C, inactivator of coagulation factors Va and VIIA gene, affecting approximately 1 in 200-500 individuals. It leads to a hypercoagulable state, increasing the risk of blood clots. Symptoms vary with age, ranging from life-threatening purpura fulminans in neonates to venous thromboembolism, particularly deep vein thrombosis, in adults. A recent case involved a 21-year-old South Asian male presenting with persistent fever, weight loss, epistaxis, abdominal tenderness, and acute pain in the right thigh and leg, raising suspicion of deep vein thrombosis. Tests confirmed deep vein thrombosis in multiple leg veins and a pulmonary embolism. The patient was diagnosed with protein C deficiency and received anticoagulant therapy, thrombolysis, and an inferior vena cava filter. Complications of protein C deficiency include deep vein thrombosis, pulmonary embolism, stroke, and ischemic colitis. Diagnosis involves immunoassays and genetic analysis. Treatment includes heparin followed by anticoagulation therapy with warfarin. In severe cases, an inferior vena cava filter may be implanted. The described case required extensive treatment due to multiple deep vein thrombosis and a pulmonary embolism, with lifelong anticoagulant therapy. Early diagnosis and appropriate management are crucial in young patients with a history of venous thromboembolism to prevent and manage complications associated with protein C deficiency.

This case report details a 30-year-old pregnant woman with inherited protein C deficiency who developed severe preeclampsia (PE), intrauterine growth restriction, and pancytopenia. Despite treatment, including anticoagulants, her condition worsened, resulting in postpartum mortality. Protein C deficiency, integral to the coagulation cascade, can exacerbate pregnancy\'s hypercoagulable state, contributing to adverse outcomes like PE. Mutations in the protein C gene can cause type I or type II deficiency, affecting protein C antigen and activity levels. The patient\'s history of recurrent pregnancy losses and conception via in vitro fertilization despite advisories highlights the complexities of managing pregnancy complications with protein C deficiency. Although some studies do not establish a direct link between protein C levels and PE, further research should explore thrombophilia\'s role in PE development and recurrence. Prospective studies investigating antithrombotic strategies in thrombophilic pregnancies could offer insights into reducing PE recurrence risks. This case underscores the need for multidisciplinary management and ongoing research to enhance clinical strategies and outcomes in high-risk pregnancies involving protein C deficiency.

We report structural changes in the retina of an adolescent diagnosed with the concomitant two temporal cilioretinal artery occlusion (CLRAO) with impending central retinal vein occlusion (CRVO) along with mild protein C deficiency. An 18-year-old girl came to the emergency room with sudden onset painless loss of vision in her right eye. On comprehensive ophthalmic examination, she had a pale superior-temporal retina with spongy macular edema corresponding to two temporal CLRAO and blurred disc margins with mild disc swelling and mild tortuosity of retinal veins all over the retina with few superficial hemorrhages in the right eye corresponding to impending CRVO. Optimal coherence tomography (OCT) showed thickening of the nerve fiber layer in the superior-temporal quadrant involving some part of the macula in the right eye. Perimetry showed a right eye visual field defect in the inferior nasal quadrant. Her coagulation profile was normal but her autoimmune profile was suggestive of mild protein C deficiency. Immediately she was started on anticoagulants. After one month, her visual acuity improved from finger counting close to face to 6/9 with treatment. Over a period of one month, retinal and OCT changes recovered with the same perimetry findings as earlier. This case shows how prompt treatment resulted in dramatic improvement in the form of good visual outcomes.

Acute liver failure is an uncommon presentation in the clinic. Common causes for acute liver failure include viral hepatitis and drug-related hepatotoxicity. However, acute liver failure due to Budd-Chiari syndrome is rare. This case highlights the importance of necessary constrast-enhanced imaging studies to rule out vascular etiologies of acute liver failure, in addition to common causes like viral or drug-induced hepatic failure. We present a case of a male Chinese patient who presented with nausea, vomiting, fatigue, and fever after eating a large amount of fatty food. Six days after hospitalization, the patient developed acute liver failure and hepatic encephalopathy. Contrast-enhanced computerized tomography and ultrasound examinations revealed thromboses in the hepatic veins and inferior vena cava. Further testing also showed decreased protein C activity. Therefore, a diagnosis of Budd-Chiari syndrome secondary to protein C deficiency was made. He received supportive care and a transjugular intrahepatic portal shunt. Hepatic function, coagulation panel results, and clinical presentations gradually returned to normal. Budd-Chiari syndrome from protein C deficiency could be a rare but valid cause of acute liver failure in Chinese patients.

Hereditary protein C deficiency is a chromosomal genetic disease caused by mutations in the protein C gene,which can lead to venous thrombosis and is mostly related to mutations in exons 4-9 and intron 8.Fatal pulmonary embolism caused by mutations in the protein C gene is rare,and the treatment faces great challenges.This article reports a case of fatal pulmonary embolism caused by a frameshift mutation in exon 8 of the protein C gene and summarizes the treatment experience of combining extracorporeal membrane oxygenation (for respiratory and circulatory support) with interventional thrombectomy,providing a basis for the diagnosis and treatment of this disease.
遗传性蛋白C缺陷症是由蛋白C基因突变引起的一种染色体遗传病,可导致静脉血栓形成,多与外显子4~9和内含子8的突变有关。蛋白C基因突变引起的致死性肺栓塞罕见,治疗面临巨大挑战。本文报道1例由蛋白C基因8号外显子移码突变引起的致死性肺栓塞,采用体外膜氧合进行呼吸、循环支持,并成功实行介入取栓的救治经验,为该疾病的诊断及救治提供参考。.

BACKGROUND: Protein C deficiency is typically associated with venous thromboembolism; however, arterial thrombosis has been reported in several cases. We report the case of a patient with pulmonary thromboembolism and deep vein thrombosis following acute myocardial infarction with high thrombus burden.
METHODS: A 40-year-old man was diagnosed with pulmonary thromboembolism and deep vein thrombosis without any provoking factors. The patient was treated with anticoagulants for six months, which were then discontinued. Three months after the discontinuation of anticoagulant therapy, the patient was hospitalized with chest pain and diagnosed with acute myocardial infarction with high thrombus burden. Additional tests revealed protein C deficiency associated with thrombophilia. The patient was treated with anticoagulants combined with dual antiplatelet agents for 1 year after percutaneous coronary intervention, and no recurrent events were reported during a follow-up period of 5 years.
CONCLUSIONS: Recurrent thromboembolic events including acute myocardial infarction with thrombus should be considered an alarming sign of thrombophilia.

In SARS-CoV-2 pandemic different disorders in coagulation pathways in COVID-19 patients were reported. We described a 44-year-old female with COVID-19 and protein C deficiency history. She did not show any coagulation disorder during her disease course. Complete genome sequencing of SARS-CoV-2 was performed and some mutations identified and compared with Wuhan strain. Besides hospitalized patients, in COVID-19 outpatients with low concentration of protein C, early prescription of an anticoagulant such as heparin could be helpful in prevention of venous thromboembolism or pulmonary embolism.

A 25-year-old man was diagnosed with diabetic ketoacidosis (DKA) at the onset of fulminant type 1 diabetes. After acute-phase DKA treatment including placement of a central venous catheter, a massive deep vein thrombosis (DVT) and pulmonary embolism (PE) were detected on hospital day 15. His protein C (PC) activity and antigen levels were low even 33 days after completing the DKA treatment, indicating partial type I PC deficiency. Severe PC dysfunction, due to overlapping of partial PC deficiency and hyperglycemia-induced PC suppression, concomitant with dehydration and catheter treatment, may have induced the massive DVT with PE. This case suggests that anti-coagulation therapy should be combined with acute-phase DKA treatment in patients with PC deficiency, even those who have been asymptomatic. As patients with partial PC deficiency should perhaps be included among those with severe DVT complications of DKA, venous thrombosis should always be considered as a potential complication of DKA.

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BACKGROUND: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare.
METHODS: We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia. Chest X-ray showed diffuse alveolar infiltrates. Laboratory tests showed severe anemia with hemoglobin of 4.2 g/dl without hemolysis. A diagnosis of idiopathic pulmonary hemosiderosis was confirmed by bronchoalveolar lavage showing numerous hemosiderin-laden macrophages, with a Golde score of 285 confirming the diagnosis of pulmonary hemosiderosis. Concerning hemiplegia, computed tomography showed multiple cerebral hypodensities suggestive of cerebral stroke. The etiology of these lesions was related to protein C deficiency.
CONCLUSIONS: Idiopathic pulmonary hemosiderosis remains a severe disease, which is rarely associated with Down syndrome. The management of this disease in Down syndrome patients is difficult, especially when associated with an ischemic stroke secondary to protein C deficiency.