HEREDITARY ANGIOEDEMA TYPE 1 IN ZULULAND

INTRODUCTION Hereditary angioedema type 1 (HAE1) is a rare autosomal dominant genetic disorder. It is secondary to a mutation of a gene on chromosome 11 that codifies for the synthesis of the enzyme C1 esterase inhibitor (C1INH). In 2008, E Moran et al identified HAE1 for the first time in sub-Saharan Africa: among members of a Zulu family in rural northern KwaZuluNatal (the NM family). We describe the genetic burden in this family over four contiguous generations. We further identify the phenotypical manifestations of the acute episodes, the therapeutic challenges in a rural setting and the socioeconomic burden secondary to the disease. METHODS During a period of quiescence, a sample of 13 individuals from the NM family was taken. They all had had acute episodes of angioedema in the past year (2016). A family tree was drawn to identify the individuals affected in four contiguous generations. A clinical history of the socio-economic background, acute presentations, and prophylactic and acute therapeutic strategies was taken. Blood samples for C1INH, complement and C-reactive protein (CRP) were taken for confirmation of the diagnosis, and to rule out a current acute episode of angioedema. RESULTS Polygamy as a local culture was found to be an important factor that perpetuated the genetic burden of the disease. C1INH levels were significantly lower than that of the population mean (30 mg/dL), with a mean of 5.45 mg/dL (CI: 3.97–6.92, SD – 1.65, p