Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press144610.36691/RJA1446Original study articlesОригинальные исследованияResearch ArticleHereditary Angioedema (HAE) with a mutation in the plasminogen gene: a retrospective study of a cohort of 14 patients from RussiaНаследственный ангиоотёк с мутацией в гене плазминогена: ретроспективное исследование когорты из 14 пациентов из Россииhttps://orcid.org/0000-0001-6432-394X7944-5159MantoIrina A.МантоИрина Александровна
Russian Federation

MD, Cand. Sci. (Med.)

научный сотрудник

irina.manto@yandex.ruhttps://orcid.org/0000-0002-1606-205X2063-7973LatyshevaElena A.ЛатышеваЕлена Александровна
Russian Federation

MD, Dr. Sci. (Med.)

доктор медицинских наук, ведущий научный сотрудник

ealat@mail.ruhttps://orcid.org/0000-0002-5339-55668451-3075BliznetzElena A.БлизнецЕлена Александровна
Russian Federation

Cand. Sci. (Med.)

кандидат медицинских наук, старший научный сотрудник

bliznetzelena@mail.ruhttps://orcid.org/0000-0002-7585-13902714-0906TimoshenkoDaria O.ТимошенкоДарья Олеговна
Russian Federation

MD

d.o.timoshenko@gmail.comhttps://orcid.org/0000-0002-3281-7379AleshinaLiubov V.АлешинаЛюбовь Валерьевна
Russian Federation

Cand. Sci. (Med.)

кандидат медицинских наук

Lubov-sk@mail.ruhttps://orcid.org/0000-0003-4182-0008BocherovaYulia A.БочероваЮлия Александровна
Russian Federation
dum_spiro.spero@inbox.ruhttps://orcid.org/0000-0002-0188-8625GilvanovaElvira R.ГильвановаЭльвира Рашитовна
Russian Federation

Cand. Sci. (Med.)

кандидат медицинских наук

elvira_rer@mail.ruhttps://orcid.org/0000-0002-2328-9420KamenevaGalina A.КаменеваГалина Альбертовна
Russian Federation
gaakam@mail.ruhttps://orcid.org/0000-0001-9669-8391PlatonovaMaria A.ПлатоноваМария Анатольевна
Russian Federation
drmaria65@mail.ruFedorovaValentina A.ФёдороваВалентина Алексеевна
Russian Federation

Chief freelance specialist of The Ministry of Health of Tula oblast

Главный внештатный специалист МЗ ТО

valentina1957efanova@rambler.ruhttps://orcid.org/0000-0002-0105-18336453-3097PolyakovAleksander V.ПоляковАлександр Владимирович
Russian Federation

Dr. Sci. (Bio), Professor

доктор биологических наук, профессор

apol@dnalab.ruhttps://orcid.org/0000-0003-1508-06408929-7644LatyshevaTatiana V.ЛатышеваТатьяна Васильевна
Russian Federation

MD, Dr. Sci. (Med.), Professor

доктор медицинских наук, профессор

tvlat@mail.ruNational Research Center – Institute of Immunology Federal Medical-Biological AgencyГосударственный научный центр «Институт иммунологии» Федерального медико-биологического агентстваNational Research Center – Institute of Immunology Federal Medical-Biological Agency of RussiaИнститут иммунологии Федерального медико-биологического агентстваPirogov Russian National Research Medical UniversityРоссийский национальный исследовательский медицинский университет имени Н.И. ПироговаFederal State Budgetary Institution, Research Centre for Medical GeneticsМедико-генетический научный центр имени академика Н.П. БочковаPirogov Russian National Research Medical University (Pirogov Medical University)Российский национальный исследовательский медицинский университет имени Н.И. ПироговаSaratov State Medical University named by RazumovskyСаратовский государственный медицинский университет им В.И. РазумовскогоTambov Regional Clinical Hospital named after V.D. BabenkoТамбовская областная клиническая больница имени В.Д. БабенкоBashkir State Medical UniversityБашкирский государственный медицинский университет Министерства здравоохранения Российской ФедерацииBashkir State UniversityБашкирский государственный университетState Medical Institution of the Republic of Bashkortostan City Hospital 2ГБУЗ РБ Городская больница № 2Аrkhangelsk Regional Clinical HospitalАрхангельская областная клиническая больницаLaboratory MedLabООО Лаборатория МедЛабTula Regional Clinical HospitalТульская областная клиническая больницаNational Research Center – Institute of Immunology Federal Medical-Biological Agency of RussiaГосударственный научный центр Институт иммунологии Федерального медико-биологического агентстваMoscow State University of Medicine and Dentistry named after A.I. EvdokimovМосковский государственный медико-стоматологический университет имени А.И. Евдокимова27052021260620211825191304202118052021Copyright ©; 2021, Pharmarus Print MediaCopyright ©; 2021, Фармарус Принт Медиа2021Pharmarus Print MediaФармарус Принт Медиаhttps://rusalljournal.ru/raj/article/view/1446

BACKGROUND: In 2018, a new form of hereditary angioedema without C1-inhibitor deficiency — hereditary angioedema with a mutation in the plasminogen gene — was identified. The world scientific literature describes a small number of patients with this form of the disease and, therefore, new research is relevant.

AIMS: To identify the sociodemographic and clinical features of patients with hereditary angioedema with plasminogen gene mutation; to evaluate the treatment efficacy; to conduct a comparative analysis in a group of patients with hereditary angioedema type I/II.

MATERIAL AND METHODS: 14 patients (1 male and 13 females, mean age 51.64±13.55 years) with hereditary angioedema with c.988A>G mutation in the plasminogen gene (p.Lys330Glu; K330E) were enrolled in a retrospective study. The comparison group included 194 patients with hereditary angioedema type I/II (56 males and 138 females, mean age 37.03±16.23 years).

RESULTS: The average age at disease onset in patients with hereditary angioedema with a mutation in the plasminogen gene is 25.07±10.46 years, which is significantly higher than in patients with hereditary angioedema type I/II — 11.58±8.92 years (p <0.001). Peripheral angioedema was reported in 21.4% of patients with hereditary angioedema with a mutation in the plasminogen gene, abdominal attacks in 28.6%, which is less common than in patients with hereditary angioedema type I/II (peripheral edema 97.4%, p <0.001; abdominal attacks 86.6%, p <0.001). Face and neck angioedema was observed in all patients with hereditary angioedema with a mutation in the plasminogen gene (100%) and in 72.2% of patients in the group of hereditary angioedema type I/II (p=0.023). 85.7% of patients with hereditary angioedema with a mutation in the plasminogen gene had edema of the tongue. A decrease in the severity and duration of 28 out of 29 attacks by an average of 71.4% was reported by 4/5 of patients who used icatibant (Firazyr); 3/4 of patients reported a decrease in the frequency of attacks during treatment with tranexamic acid.

CONCLUSIONS: The disease’s manifestation in adulthood, the predominance of face and tongue angioedema are common features of hereditary angioedema with a mutation in the plasminogen gene. The efficacy of tranexamic acid and icatibant was demonstrated in the observed cohort of patients.

ОБОСНОВАНИЕ. В 2018 году выделена новая форма наследственного ангиоотёка без дефицита С1-ингибитора ― наследственный ангиоотёк с мутацией в гене плазминогена. В мировой научной литературе описано небольшое число пациентов с этой формой заболевания, в связи с чем проведение новых исследований актуально.

ЦЕЛЬ ― выявить характерные социодемографические и клинические особенности пациентов с наследственным ангиоотёком с мутацией в гене плазминогена; оценить эффективность терапии; провести сравнительный анализ с группой пациентов с наследственным ангиоотёком I/II типа.

МАТЕРИАЛ И МЕТОДЫ. В ретроспективное исследование включено 14 пациентов (1 мужчина и 13 женщин, средний возраст 51,64±13,55 года) с наследственным ангиоотёком с мутацией c.988A>G в гене плазминогена (p.Lys330Glu;K330E). Группу сравнения составили 194 пациента c наследственным ангиоотёком I/II типа (56 мужчин и 138 женщин, средний возраст 37,03±16,23 года).

РЕЗУЛЬТАТЫ. Средний возраст дебюта заболевания у пациентов с наследственным ангиоотёком с мутацией в гене плазминогена ― 25,07±10,46 года, что значительно выше, чем у пациентов с наследственным ангиоотёком I/II типов ― 11,58±8,92 года (p <0,001). Периферические отёки зафиксированы у 21,4% пациентов с наследственным ангиоотёком с мутацией в гене плазминогена, абдоминальные атаки ― у 28,6%, что реже, чем у пациентов с наследственным ангиоотёком I/II типов (периферические отёки ― 97,4%, p <0,001; абдоминальные атаки ― 86,6%, p <0,001). Отёки области лица и шеи были у всех пациентов с наследственным ангиоотёком с мутацией в гене плазминогена (100%), в группе наследственного ангиоотёка I/II типов ― у 72,2% (р=0,023). У 85,7% пациентов с наследственным ангиоотёком с мутацией в гене плазминогена были отёки языка. Уменьшение интенсивности и длительности 28 из 29 атак в среднем на 71,4% отметили 4/5 пациентов, применявших икатибант (Фиразир); 3/4 пациентов на фоне терапии транексамовой кислотой отметили снижение частоты атак.

ЗАКЛЮЧЕНИЕ. Дебют в зрелом возрасте, преобладание в клинической картине отёков лица и языка ― характерные особенности течения наследственного ангиоотёка с мутацией в гене плазминогена. Продемонстрирована эффективность транексамовой кислоты и икатибанта у наблюдаемой когорты пациентов.

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