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Is transmitted in an autosomal dominant genetic pattern. HAE1/2 are caused by PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/20460822 a large array of different mutations of the SERPING1 gene, which codes for C1-INH. In approximately 20 ?5 , a de novo mutation of SERPING1 is responsible for the disease.12,58,59 C1-INH is a member of the serine protease inhibitor (serpin) superfamily and the major inhibitor of several complement proteases (C1r, C1s, and mannose-binding lectin-associated PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/13485127 serine protease 1 and 2) and contact system proteases (plasma kallikrein and coagulation factor XIIa) and a relatively minor inhibitor of the fibrinolytic protease plasmin and the coagulation protease factor XIa.60??2012 World Allergy OrganizationRecommendationAll patients suspected to have HAE-1/2 (ie, recurrent angioedema in the absence of a known cause) should be assessed for blood levels of C4, C1-INH protein, and 2,2,3,3-Tetrafluoropropyl N,N'-diethylcarbamimidothioate trifluoromethanesulfonate C1INH function, and these tests, if abnormally low, should be repeated to confirm the diagnosis. Evidence grade: D, strength of recommendation: strong.Craig, et alWAO Journal DecemberMeasurements of serum levels of C4, C1 inhibitor protein, and the C1 inhibitor functional activity are the major laboratory tests used to diagnose HAE-1/2. In some cases, measuring the C1q level may be useful to help exclude AAE. Abnormal results peerj.2721 should be confirmed, and normal results may need to be checked during an attack of angioedema. C4 is the single best screening test, and repeating the C4 during an attack increases the probability that a low C4 will be found. However, C4 is not a definitive test because neither the sensitivity nor specificity is absolute. There are occasional false-negative results that will be encountered, particularly in patients who are taking anabolic androgens. The C4 level should virtually always, however, be reduced during an attack of angioedema. Measurement of the activation product C4d may avoid false-negative results. False positives can also be encountered. In summary, the C4 level is useful for screening but cannot be relied upon to confirm or exclude a diagnosis of HAE-1/2.13,70,71 In a patient with a high index of suspicion for HAE, the C1-INH antigenic level and/or functional activity should be directly measured. The C1-INH antigenic level is low in HAE-1 and acquired C1-INH deficiency patients but is normal in HAE-2 patients. The C1-INH functional activity is low in HAE-1 and HAE-2 and acquired C1-INH deficiency patients.13,42,72 In rare patients, sequencing of the SERPING1 gene can be done to pursue diagnosis of HAE-1/2; sequencing of factor XII genes can help to diagnose HAE-3; however, it is rare that this approach is needed. Complement C3 levels are expected to be normal, and testing CH50 is not useful. Many patients with acquired C1-INH deficiency have autoantibodies that recognize and inactivate C1-INH.73?inhibitors (ACE-I). One in 200 to 1000 patients treated with ACE-I will develop angioedema. Angioedema from ACE-I is bradykinin-induced but has a different mechanism than HAE1/2. Because of the difference in N-BOC-3-Fluoro-D-phenylalanine pathophysiology, response to medications used for HAE-1 and HAE-2 cannot be assumed to work in ACE-I angioedema. Angioedema due to acquired C1-INH deficiency is a rare disease that presents similarly to HAE. Differences include onset in later age, often underlying diseases such as lymphoma or monoclonal gammopathy, occasional constitutional symptoms, and depressed C1 q-r-s levels. C1q level measurements should be obtained to investigate patients for AAE-C1-INH,.