Impaired Control Of The Contact System In Hereditary Angioedema With Normal C1‐inhibitor

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1 Accepted Article

11 Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor 12 13 14 Running title: Contact system in normal C1-inhibitor hereditary angioedema 15 16 Keywords: biomarkers, epidemiology, genetic, angioedema 17 18 Authors: Maria Bova1*, Chiara Suffritti2*, Valeria Bafunno3, Stefania Loffredo4, Giorgia


Tse K, Zuraw BL. Recognizing and managing hereditary angioedema. Clev Clin J Med. 2013;80:297 -308. 2. Cicardia M, Bork K, Caballero T, et al., HAWK (Hereditary Angioedema International Working Group). Evidence-based rec-ommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an

Guideline: HereditaryangioedemaduetoC1inhibitor deficiency

system (KKS) or contact system. C1-INH is respon-sible for the inhibition of the majority of plasma kallikrein and factor XIIa and, as such, is the most important regulator of KKS activation. In acute at-Guideline: Hereditary angioedema duetoC1inhibitor deficiency. K

Hereditary and acquired C1-inhibitor-dependent angioedema

Hereditary and acquired angioedema due to C1-inhibitor deficiency (C1-INH-HAE and -AAE) are diseases characterized by serious and potentially fatal attacks of subcutaneous and submucosal edemas of upper airways, facial struc- tures, abdomen, and extremities, due to inadequate control of BK generation.

Hereditary angio-oedema - The Lancet

Hereditary angio-oedema Hilary Longhurst, Marco Cicardi Hereditary angio-oedema is caused by a heterozygous defi ciency of C1 inhibitor. This inhibitor regulates several infl ammatory pathways, and patients with hereditary angio-oedema have intermittent cutaneous or mucosal swellings because of a failure to control local production of bradykinin.

Some aspects of the pathophysiology of angioedema with

women with normal plasma levels and functional activity of C1-INH, and is activated by oestrogen.5,13,14,19-21 The clinical features are identical in all the different types of hereditary angioedema.19 Hereditary C1-INH deficiency types 1 and 2 are associated with molecular variations in the gene governing C1-INH,

Clinical Immunology Review Series: An approach to the patient

Hereditary angio-oedema types 1 and 2 Hereditary angio-oedema (HAE) occurs as a result of C1 inhibitor deficiency (C1 INH). Those affected are heterozy-gous for C1 inhibitor mutations, which result in either a truncated or abnormally folded protein with low levels of circulating C1-inh (HAE1) or normal or raised levels of a non-functional C1

Possible disease-modifying factors: the mannan-binding lectin

logical function. Angioedema may be caused by a partial deficit of C1-INH (type 1) or the presence of normal or excessive amounts of this regulatory protein with impaired function (type 2) [2, 24]. C1-INH deficiency press-8a.qxd 2/4/08 10:46 AM Page 69


CONTENTS Volume 75 Number 6 June 2020 IN THIS ISSUE 1287 nthis I ssue: I Gaphical r Abstracts EDITORIALS 1291 The value orof al immunotherapy É. Dufresne, T. G. Poder and P. Bégin

Efficacy of human C1 esterase inhibitor concentrate compared

with hereditary angioedema, with a rapid onset of relief. (J Allergy Clin Immunol 2009;124:801-8.) Key words: C1 inhibitor, C1-INH, C1 inhibitor deficiency, angioe-dema, hereditary angioedema, HAE Hereditary angioedema (HAE) is a rare disorder with 3 known forms (typesI,II,and III).Whereas types I andII are characterized


C1-inhibitor with increased bradykinin production. Clinically, HAE When may present with systemic and recurrent edema of sub-cutaneous include tissue or mucous membrane, with involvement of the zol gastrointestinal system. It can be misinterpreted as an acute always abdomen condition; airway condition with respiratory distress, intensive


angioedema is characterised by normal C1-INH levels and function, and is referred to as HAE with normal C1-INH (Craig, Aygoren-Pursun et al. 2012). C1-INH is a serine protease inhibitor, which has been shown to be an inhibitor of the classical complement pathway, the contact system, the fibrinolytic and kinin-generating pathways.