Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012739 (disseminated intravascular coagulation)
 8,673 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A toddler of Haitian descent presented with an 18-month history of chronic consumption coagulopathy, followed by catastrophic skin necrosis. Protein C deficiency (1% to 3% of control) was noted by functional assay; chromogenic assay and antigen levels were 30% of control. Plasma infusion abrogated the disseminated intravascular coagulation-like state. The authors identified a homozygous mutation, C1432T, resulting in a missense, Arg15Trp, in the gamma-carboxyglutamate domain of the protein. Chronic consumption coagulopathy without purpura fulminans or venous thrombosis is a rare presentation of defective protein C pathway. The result of this mutation is a mixed type I (low antigen) and type II (low function) phenotype.
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PMID:Chronic disseminated intravascular coagulation and childhood-onset skin necrosis resulting from homozygosity for a protein C Gla domain mutation, Arg15Trp. 1243 46

The protein C pathway has an important function in regulating and modulating blood coagulation and ensuring patency of the microcirculation. Protein C deficiency leads to macro- or microvascular thrombosis. Hereditary severe protein C deficiency is a life-threatening state with neonatal purpura fulminans. Patients with heterozygous protein C deficiency have an increased risk for thromboembolic events or coumarin-induced skin necrosis. Secondary protein C deficiency occurs during disseminated intravascular coagulation (DIC), sepsis (especially meningococcal sepsis with purpura fulminans), liver failure and vitamin K deficiency. Replacement with protein C concentrates is an established treatment for congenital protein C deficiency. The high-purity, plasma-derived protein C concentrate Ceprotin (Baxter AG, Vienna, Austria) is approved for this indication, but its use in acquired deficiency states is not approved. Several case series demonstrated beneficial effects in infectious purpura fulminans and DIC, but no controlled studies for these indications exist. Protein C concentrate may therefore be given off-label in such cases. Protein C concentrate has an excellent safety profile: no drug interactions, overdose or bloodborne infections, bleeding or prothrombotic complications have been observed. As with all protein preparations, a potential risk of hypersensitivity reactions exists.
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PMID:Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency. 1859 97

Levels of protein C, low at birth, physiologically Increase until six months of age and achieve the adult range after puberty. Protein C deficiency may be congenital or acquired. Severe protein C deficiency is a rare autosomal recessive disorder that usually presents in neonatal period with purpura fulminans. Acquired protein C deficiency may be caused by increased consumption (e.g., asphyxia, overt DIC, severe infection without overt DIC, acute VTE) or by decreased synthesis of the active carboxylated protein (e.g. administration of vitamin K antagonists, severe hepatic synthetic disfunction). Two different formulations of protein C are available: recombinant human activated protein C (rhAPC) and human plasma-derived viral-inactivated protein C. It is known that in septic patients replacement therapy with rhAPC reduces mortality but is associated with an increased risk of bleeding. During the neonatal period, when a higher risk of bleeding exists, the human plasma-derived viral-inactivated protein C concentrate may represent an effective therapeutic option. In fact, its administration results effective both in severe congenital and acquired forms of protein C deficiency.
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PMID:Use of protein C concentrate in neonatal period. 2108 15

Splenic infarction is most commonly caused by cardiovascular thromboembolism; however, splenic infarction can also occur in hematologic diseases, including sickle cell disease, hereditary spherocytosis, chronic myeloproliferative disease, leukemia, and lymphoma. Although 10% of splenic infarction is caused by hematologic diseases, it seldom accompanies autoimmune hemolytic anemia (AIHA). We report a case of a 47-year-old woman with iron deficiency anemia who presented with pain in the left upper abdominal quadrant, and was diagnosed with AIHA and splenic infarction. Protein C activity and antigen decreased to 44.0% (60-140%) and 42.0% (65-140%), respectively. Laboratory testing confirmed no clinical cause for protein C deficiency, such as disseminated intravascular coagulation, sepsis, hepatic dysfunction, or acute respiratory distress syndrome. Protein C deficiency with splenic infarction has been reported in patients with viral infection, hereditary spherocytosis, and leukemia. This is a rare case of splenic infarction and transient protein C deficiency in a patient with AIHA.
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PMID:Splenic infarction in a patient with autoimmune hemolytic anemia and protein C deficiency. 2225 34

Protein C deficiency is a rare autosomal-dominant disorder of varying severity. Patients with homozygous and compound heterozygous protein C deficiency present with neonatal purpura fulminans (NPF). Other presentations usually include disseminated intravascular coagulation and venous thromboembolism. This disorder usually poses a unique anaesthetic challenge to the anaesthesiologist, requiring special precautions to prevent various intra- and post-operative complications. We hereby report the successful anaesthetic management of a 1-month-old infant who presented with NPF.
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PMID:Anaesthetic significance and management of a child with neonatal purpura fulminans. 2292 29