Hereditary Angioedema Type 1 and Serious Vascular Lesions Associated with segmental and focal hyalinosis : is there a causal connection ?

Abstract

Hereditary angioedema (HAE) is rare; it is usually a monogenic, genetic disease with autosomal dominant transmission, resulting in C1-inhibitor deficiency (C1InH). Renal involvement associated with HAE has been known for nearly thirty years. We are reporting on two observations of a father and his daughter presenting a glomerulonephritis evolving towards to CKD class V. Renal needle biopsy had evidenced acute vascular lesions associated with segmental and focal hyalinosis. Since these lesions were not described, we discussed the possible causal links with HAE. The accumulation of bradykinin caused by mutation in C1-Inh could have been misleading, considering all the beneficial vascular and renal effects widely described in the literature, if we stick to that fact, in the study of vascular and glomerular lesions. On the other hand, taken as a whole, HAE appears to pave the way for the development of a glomerular and vascular disease: dysimmunity, circulating immune complexes, and vascular hyperpermeability favor deposition of immune complexes, overexpression and activation of B1 receptors