Online first

Acta Reumatológica Portuguesa - Online First: 2020-06-15
Case-based Review

Misleading symptoms of Hereditary angioedema type II mimicking Familial Mediterranean fever

Baresic M, Karanovic B, Herak DC, Kozmar A, Anic B

Abstract

Hereditary angioedema (HAE) is a rare, debilitating and potentially life-threatening disease characterized by recurrent attacks of oedema. With the development of new therapies and better availability of diagnostic tools, important advances have been made. However, the disease still remains frequently misdiagnosed and inadequately treated. Familial Mediterranean fever (FMF) is an autoinflammatory syndrome comprised of serositis, fever, arthritis and skin involvement. Both diseases can cause severe abdominal pain resembling that of acute abdomen. We report a case of three family members that presented with various symptoms that could fit in a clinical picture of both diseases, only to confirm a diagnosis of HAE type II after a diagnostic delay of many years.