Hereditary angioneurotic edema: clinical and laboratory findings in 58 subjects.

Abstract

An in-depth analysis of clinical and laboratory findings in 58 patients affected by hereditary angioneurotic edema (HANE) is reported with special focus on problems related to the diagnosis of the disorder. The functional C1 inhibitor (C1INH) assay is the method of choice in the diagnosis of HANE, as it is capable of revealing the disorder with 100% accuracy. The immunochemical assay of C1INH detected HANE in 84.5% of the cases, i.e., immunochemical deficiency of C1INH (type I HANE). C4 was markedly reduced in both type I and type II HANE; thus, C4 levels can be particularly useful when C1INH functional tests are not available. CH50 testing is of little diagnostic value since total hemolytic complement activity is reduced in a variety of other congenital or acquired pathologies involving the complement system. The CH50 assay after incubation in low ionic strength buffer may be utilized in mass screening programs for qualitative evaluation. However, the test has the drawback of not being applicable in cases of frank hypocomplmentemia. While a depletion of the complement classical pathway was detected in most cases, no alteration in the complement alternative pathway was recorded, nor there was any reduction in immunoglobulin levels. Family history was positive in 100% of the cases. Attacks were almost always brought on by stress and/or trauma, though the causes were sometimes unknown. Edema could be cutaneous (non-pitting and non-pruritic) in 94.2%, laryngeal (often life-threatening) in 48% and abdominal (almost always painful) in 88.4% of patients. Associated pathologies were found in 2 patients, i.e., lupus rash and C3NeF-positive chronic membranoproliferative glomerulonephritis, respectively.