A rare form of hereditary angioedema could be confused with ovarian cancer

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent and circumscribed episodes of subcutaneous and submucosal edema involving different organs. Gastrointestinal involvement usually presents as abdominal pain. The presence of ascites is rare with only few cases reported in the literature. We report a case of HAE with ovarian edema, ascites and elevation of CA-125 which led to an initial suspicion of ovarian neoplasia. It is important for gynaecologists to be aware of HAE, as this disease can present a symptomatology similar to that described in gynaecological dis- eases and therefore lead to unnecessary invasive procedures and delay proper treatment.

Hereditary angioedema; C1-inhibitor; Abdominal pain; Ascites; Ovarian edema; Ovarian neoplasia

[1] Busse PJ, Christiansen SC. Hereditary Angioedema. The New England Journal of Medicine. 2020; 382: 1136–1148.

[2] Maurer M, Magerl M, Ansotegui I, Aygören-Pürsün E, Betschel S, Bork K, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-the 2017 revision and update. Allergy. 2019; 73: 1575–1596.

[3] Roche O, Blanch A, Caballero T, Sastre N, Callejo D, LópezTrascasa M. Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. Annals of Allergy, Asthma & Immunology. 2005; 94: 498–503.

[4] Betschel S, Badiou J, Binkley K, Borici-Mazi R, Hébert J, Kanani A, et al. The International/Canadian Hereditary Angioedema Guideline. Allergy, Asthma & Clinical Immunology. 2019; 15: 72.

[5] Bork K, Wulff K, Rossmann H, Steinmüller-Magin L, Braenne I, Witzke G, et al. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin. Allergy. 2019; 74: 2479–2481.

[6] Zuraw BL, Bork K, Binkley KE, Banerji A, Christiansen SC, Castaldo A, et al. Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy and Asthma Proceedings. 2013; 33: S145–S156.

[7] Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. The American Journal of Medicine. 2006; 119: 267–274.

[8] Caballero T, Baeza ML, Cabañas R, Campos A, Cimbollek S, Gómez-Traseira C, et al. Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part II. Treatment, follow-up, and special situations. Journal of Investigational Allergology and Clinical Immunology. 2011; 21: 422–423.

[9] Farkas H, Harmat G, Kaposi PN, Karádi I, Fekete B, Füst G, et al. Ultrasonography in the diagnosis and monitoring of ascites in acute abdominal attacks of hereditary angioneurotic oedema. European Journal of Gastroenterology & Hepatology. 2001; 13: 1225–1230.

[10] Bork K, Gül D, Hardt J, Dewald G. Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course. The American Journal of Medicine. 2007; 120: 987–992.

[11] Binkley KE, Davis A. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. The Journal of Allergy and Clinical Immunology. 2000; 106: 546–550.

[12] Bork K, Wulff K, Witzke G, Hardt J. Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations. Allergy. 2016; 70: 1004–1012.