Angioedema in C1 esterase inhibitor deficiency – A Review

Abstract

Angioedema, a rare potentially severe disease, is characterized by
recurrent, circumscribed, solitary or multiple subcutaneous and
mucosal swelling, involving the extremities, face, larynx and bowel
wall. Bradykinin appears to be the main mediator of episodes.
Angioedema is due to hereditary or acquired varieties of C1 esterase inhibitor (C1INH) deficiency, each one comprising two types.
In type 1 hereditary angioedema both C1INH protein level and
function in plasma are decreased; whereas in type 2 hereditary
angioedema the C1INH level is normal or elevated, but C1INH
function is decreased due to synthesis of dysfunctional C1INH. In
type 1 acquired angioedema there is depressed functional C1INH
activity, which is frequently associated with lymphoproliferative
disorders, whereas in type 2 acquired angioedema there is the
presence of anti-C1INH autoantibodies, often monoclonal, but
without proven associated malignant disease. The attacks are
caused by several conditions. Based on a case of atypical acquired angioedema in a 49-year old man, responding favourably to
cinnarizine and alcohol abstinence, the authors provide a concise
review of both types of angioedema, portending to pathogenic
mechanisms, aetiology of attacks, clinical manifestations, differential diagnosis of both types of angioedema by quantifi cation
of the C1 complement fraction determination, and the available
therapeutic possibilities. Cinnarizine was prescribed due to presumed alcoholic liver disease. The clinically signifi cant improvement,
was however not associated with concomitant good laboratory
results, which is a relatively common occurrence.