A case of hereditary angioedema with late adulthood onset

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Abstract


Over the last years, high attention is given to the hereditary angioedema (HAO). Practitioners can identify the disease by clinical manifestations and family history even before specific laboratory testing. More than 95% of HAO cases are associated with C-1­inhibitor deficiency/dysfunction caused by a mutation in SERPING1 gene. In 25% of patients without C1-inhibitor deficiency HAO is associated with heterozygous mutations in gene F12 coding Hageman XII factor. In 2017–2018 years two more genes responsible for normal C1-inhibitor HAO were discovered: genes PLG and ANGPT1. In clinical practice patients do not always meet typical HAO diagnosis criteria. Diagnostic difficulties appear when clinical picture is not confirmed by related genetic testing results, for example, mutations in genes not described earlier are detected. It should be noted that app. 25% of patients do not have any HAO family history, i.e. have so called de novo mutations. Normally HAO onset takes place within 2 first life decades. 40% of patients have disease progress before the age of 5, and 75% of patients – before the age of 15 y.o. However, it can appear in elderly age, which means certain diagnostic difficulties. It is important to analyze thoroughly patient’s comorbidity and make differential diagnosis with a secondary angioedema.


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Julia P. Pokalyukhina

City Clinical Hospital № 8

Author for correspondence.
Email: dpa1@list.ru
ORCID iD: 0000-0001-9628-1334

Russian Federation, Chelyabinsk

chief freelance allergologist-immunologis of the Chelyabinsk City Health Department, allergologist-immunologis, City Clinical Hospital 8

Natalia N. Abramova

Medical Center Lotos

Email: docann@mail.ru
ORCID iD: 0000-0002-7446-0910

Russian Federation, Chelyabinsk

chief adult freelance allergologist-immunologis of the Ministry of health of the Chelyabinsk region, head of the Department of Allergology and Immunology of the medical center Lotоs, MD

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  3. med-gen.ru [Internet]. Federal’noe gosudarstvennoe byudzhetnoe nauchnoe uchrezhdenie «Mediko-geneticheskii nauchnyi tsentr imeni akademika N.P. Bochkova». Programma genotipirovaniya bol’nykh nasledstvennym angionevroticheskim otekom [cited 2020 Jul 12]. Available from: https://med-gen.ru/docs/nao.pdf (In Russ.).

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