Hereditary Angioedema (HAE) with a mutation in the plasminogen gene: a retrospective study of a cohort of 14 patients from Russia
- Authors: Manto I.A.1, Latysheva E.A.2,3, Bliznetz E.A.4, Timoshenko D.O.5, Aleshina L.V.6, Bocherova Y.A.7, Gilvanova E.R.8,9,10, Kameneva G.A.11, Platonova M.A.12, Fedorova V.A.13, Polyakov A.V.4, Latysheva T.V.2,14
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Affiliations:
- National Research Center – Institute of Immunology Federal Medical-Biological Agency
- National Research Center – Institute of Immunology Federal Medical-Biological Agency of Russia
- Pirogov Russian National Research Medical University
- Federal State Budgetary Institution, Research Centre for Medical Genetics
- Pirogov Russian National Research Medical University (Pirogov Medical University)
- Saratov State Medical University named by Razumovsky
- Tambov Regional Clinical Hospital named after V.D. Babenko
- Bashkir State Medical University
- Bashkir State University
- State Medical Institution of the Republic of Bashkortostan City Hospital 2
- Аrkhangelsk Regional Clinical Hospital
- Laboratory MedLab
- Tula Regional Clinical Hospital
- Moscow State University of Medicine and Dentistry named after A.I. Evdokimov
- Issue: Vol 18, No 2 (2021)
- Pages: 5-19
- Section: Original studies
- URL: https://rusalljournal.ru/raj/article/view/1446
- DOI: https://doi.org/10.36691/RJA1446
Cite item
Abstract
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.
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About the authors
Irina A. Manto
National Research Center – Institute of Immunology Federal Medical-Biological Agency
Author for correspondence.
Email: irina.manto@yandex.ru
ORCID iD: 0000-0001-6432-394X
SPIN-code: 7944-5159
MD, Cand. Sci. (Med.)
Russian Federation, 24, Kashirskoye shosse, Moscow, 115522Elena A. Latysheva
National Research Center – Institute of Immunology Federal Medical-Biological Agency of Russia; Pirogov Russian National Research Medical University
Email: ealat@mail.ru
ORCID iD: 0000-0002-1606-205X
SPIN-code: 2063-7973
MD, Dr. Sci. (Med.)
Russian Federation, 24, Kashirskoye shosse, Moscow, 115522; 1, Moskvorechye str., Moscow, 115578Elena A. Bliznetz
Federal State Budgetary Institution, Research Centre for Medical Genetics
Email: bliznetzelena@mail.ru
ORCID iD: 0000-0002-5339-5566
SPIN-code: 8451-3075
Cand. Sci. (Med.)
Russian Federation, 1, Moskvorechye str., Moscow, 115578Daria O. Timoshenko
Pirogov Russian National Research Medical University (Pirogov Medical University)
Email: d.o.timoshenko@gmail.com
ORCID iD: 0000-0002-7585-1390
SPIN-code: 2714-0906
MD
Russian Federation, 1, Ostrovityanova, Moscow, 117997Liubov V. Aleshina
Saratov State Medical University named by Razumovsky
Email: Lubov-sk@mail.ru
ORCID iD: 0000-0002-3281-7379
Cand. Sci. (Med.)
Russian Federation, 22, Proviantskata str., Saratov, 410028Yulia A. Bocherova
Tambov Regional Clinical Hospital named after V.D. Babenko
Email: dum_spiro.spero@inbox.ru
ORCID iD: 0000-0003-4182-0008
Russian Federation, 29, Moskovskaya str., Tambov, 392023
Elvira R. Gilvanova
Bashkir State Medical University; Bashkir State University; State Medical Institution of the Republic of Bashkortostan City Hospital 2
Email: elvira_rer@mail.ru
ORCID iD: 0000-0002-0188-8625
Cand. Sci. (Med.)
Russian Federation, 3, Lenina str., Ufa, 450008; 32, Zaki Validi str., Ufa, 450076; 59, Patrioticheskaya str., Sterlitamak, 453130Galina A. Kameneva
Аrkhangelsk Regional Clinical Hospital
Email: gaakam@mail.ru
ORCID iD: 0000-0002-2328-9420
Russian Federation, 292, Prospect Lomonosova, Arkhangelsk, 163045
Maria A. Platonova
Laboratory MedLab
Email: drmaria65@mail.ru
ORCID iD: 0000-0001-9669-8391
Russian Federation, 46, corp. 2, lit. B, Tambovskaya str., Saint Petersburg
Valentina A. Fedorova
Tula Regional Clinical Hospital
Email: valentina1957efanova@rambler.ru
Chief freelance specialist of The Ministry of Health of Tula oblast
Russian Federation, 1a, st. Yablochkova, Tula, 300053Aleksander V. Polyakov
Federal State Budgetary Institution, Research Centre for Medical Genetics
Email: apol@dnalab.ru
ORCID iD: 0000-0002-0105-1833
SPIN-code: 6453-3097
Dr. Sci. (Bio), Professor
Russian Federation, 1, Moskvorechye str., Moscow, 115578Tatiana V. Latysheva
National Research Center – Institute of Immunology Federal Medical-Biological Agency of Russia; Moscow State University of Medicine and Dentistry named after A.I. Evdokimov
Email: tvlat@mail.ru
ORCID iD: 0000-0003-1508-0640
SPIN-code: 8929-7644
MD, Dr. Sci. (Med.), Professor
Russian Federation, 24, Kashirskoye shosse, Moscow, 115522; 20/1, Delegatskaya st., Moscow, 127473References
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