Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level

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Abstract

Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.

About the authors

A. V. Emelyanov

Mechnikov North-Western State Medical University

Author for correspondence.
Email: emelav@inbox.ru
ORCID iD: 0000-0002-8574-6869

д.м.н., проф.

Russian Federation, Saint Petersburg

E. V. Leshenkova

Mechnikov North-Western State Medical University

Email: emelav@inbox.ru
ORCID iD: 0000-0003-4616-3166

к.м.н., доц.,

Russian Federation, Saint Petersburg

G. A. Kameneva

Arkhangelsk Regional Clinical Hospital

Email: emelav@inbox.ru
ORCID iD: 0000-0002-2328-9420

врач аллерголог-иммунолог

Russian Federation, Arkhangelsk

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Supplementary files

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2. Figure: 1. Mechanism of development of NAO [8, 9].

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3. Figure: 2. Patient B. (a) with angioedema of the tongue (b), upper lip (c), face (d): own observation. Photos are published with the permission of the patient.

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