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pubmed-article:20377110pubmed:abstractTextHereditary angioedema (HAE) is an autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor (C1 INH) protein or function. Guidelines do not exist regarding diagnostic criteria or routine testing of family members of patients with HAE. Laboratory data for diagnosis include complement factor 4 level; C1 INH antigenic protein level, which is reduced in approximately 85% of patients with HAE; and C1 INH functional assay, which is considered an unreliable test in the United States secondary to inconsistent standardization of assays.lld:pubmed
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pubmed-article:20377110pubmed:articleTitleIs there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients?lld:pubmed
pubmed-article:20377110pubmed:affiliationDivision of Pulmonary, Allergy, and Critical Care Medicine, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania 17033, USA. mlunn@hmc.psu.edulld:pubmed
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