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ASIA syndrome masked as recurrent angioedema: can development be predicted by genetic screening
- Authors: Fomina D.S.1,2,3, Lebedkina M.4, Nikitina E.A.5, Kovalkova E.V.6, Andrenova G.V.5, Кruglova T.S.4, Bobrikova E.N.4, Markina U.A.4, Abdullaev S.4, Evsegneeva I.7, Karaulov A.V.8,9, Lysenko M.A.1,10
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Affiliations:
- Clinical City Hospital No. 52
- The First Sechenov Moscow State Medical University (Sechenov University)
- Astana Medical University
- City Clinical Hospital 52, Moscow, Russia
- Moscow City Hospital 52
- Center of Allergy and Immunology Clinical Moscow City Hospital 52
- The First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia
- The First Sechenov Moscow State Medical University (Sechenov University) Life Improvement by Future Technologies (LIFT) Center, Skolkovo, Russia
- The Russian National Research Medical University named after N.I. Pirogov
- Section: Original studies
- Submitted: 07.02.2025
- Accepted: 25.04.2025
- Published: 30.04.2025
- URL: https://rusalljournal.ru/raj/article/view/17002
- DOI: https://doi.org/10.36691/RJA17002
- ID: 17002
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Abstract
Background: ASIA – autoimmune/inflammatory syndrome induced by adjuvants. Symptoms can be multifacial and the recurrent angioedema (AE) is one of the dominant. Genetic screening is discussed as a preemptive option. HLA type II (DRB1*0301 or in combination with HLA-B*08, DRB1*01, and DRB4), as well as the Arg620Trp polymorphism in the PTPN22 are discussed as a causative reason responsible for the development of autoimmune diseases, including ASIA syndrome [1,2].
Methods: A single center observation of 16 patients with ASIA syndrome and 10 controls. Genetic screening was performed in 14 patients from the ASIA group and 10 patients from the control group.
Results: All patients with ASIA are women, potential triggers included hyaluronic acid fillers 10/16, including in combination with breast silicone implants 1/16, follicle-stimulating hormone and human chorionic gonadotropin supplementation 1/16, arthroplasty with shoulder joint replacement 1/16, face hyaluronic acid injections 5/16 and calcium hydroxyapatite 1/16.
The sites of AE localization were face 15/16, larynx (1/16), upper (2/16) and lower extremities (1/16). There were arthralgia, myalgia, muscle weakness - 1/16, hypocomplementary urticarial vasculitis, lymphocytic colitis - 1/16, arthralgia combined with lymphadenopathy - 1/16, chronic spantaneous and solar urticaria - 1/16, fixed erythema of skin, antiphospholipid syndrome - 1/16, normocomplementemic urticarial vasculitis - 1/16, Still's disease - 1/16.
Autoimmune response was presented by autoantibodies in 10 of 16 patients. 10 patients received non-sedating antihistaminic drugs (5 in isolation, 1 with filler removal, 1 with hydroxychloroquine(HC), 3 with HC and omalizumab), 1 - tranexamic acid, 1 - danazol, 1 - HC, and 3 patients received no therapy. A combination of two genetic factors was detected in 3 patients: DRB1*0301, B1*08 (in two with Arg620Trp polymorphism). Isolated Arg620Trp polymorphism was detected in 6 patients.
Conclusion: Genetic factors were found in 9 out of 16 patients and none in control group. Further studies are needed to create reliable diagnostic and treatment algorithm.
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About the authors
Darya S. Fomina
Clinical City Hospital No. 52; The First Sechenov Moscow State Medical University (Sechenov University); Astana Medical University
Email: daria_fomina@mail.ru
ORCID iD: 0000-0002-5083-6637
SPIN-code: 3023-4538
Scopus Author ID: 57201133822
Moscow Center of Allergy and Immunology, MD, Cand. Sci. (Medicine), Assistant Professor
Россия, Moscow; Moscow; Astana, KazakhstanMarina Lebedkina
City Clinical Hospital 52, Moscow, Russia
Author for correspondence.
Email: marina.ivanova0808@yandex.ru
ORCID iD: 0000-0002-9545-4720
SPIN-code: 1857-8154
Scopus Author ID: 57671017400
MD
Россия, 3 Pekhotnaya street, 123182 Moscow, RussiaEkaterina A. Nikitina
Moscow City Hospital 52
Email: katrin88866@gmail.com
ORCID iD: 0000-0002-0865-8355
SPIN-code: 3507-9106
Scopus Author ID: 58527247600
MD
Россия, City Clinical Hospital 52, Moscow, Russia 3 Pekhotnaya street, 123182 Moscow, RussiaElena V. Kovalkova
Center of Allergy and Immunology Clinical Moscow City Hospital 52
Email: ev-kovalkova@ya.ru
ORCID iD: 0000-0002-1212-3767
SPIN-code: 3078-0976
Scopus Author ID: 57219657734
MD
Россия, City Clinical Hospital 52, Moscow, Russia;Gerelma V. Andrenova
Moscow City Hospital 52
Email: Andrenovagv@gmail.com
ORCID iD: 0000-0001-7053-3900
SPIN-code: 2891-1650
Scopus Author ID: 58131197100
MD
Россия, 3 Pekhotnaya street, 123182 Moscow, Russia;Tatiana S. Кruglova
City Clinical Hospital 52, Moscow, Russia
Email: surckova.t@yandex.ru
ORCID iD: 0000-0002-4949-9178
SPIN-code: 2884-5000
Scopus Author ID: 57218627116
MD, Cand. Sci. (Med.)
Россия, 3 Pekhotnaya street, 123182 Moscow, Russia;Elena N. Bobrikova
City Clinical Hospital 52, Moscow, Russia
Email: elena.bobrikova.69@mail.ru
ORCID iD: 0000-0002-6534-5902
SPIN-code: 5806-7260
Scopus Author ID: 57201135486
MD
Россия, 3 Pekhotnaya street, 123182 Moscow, RussiaUlyana A. Markina
City Clinical Hospital 52, Moscow, Russia
Email: itcher.md@bk.ru
ORCID iD: 0000-0002-6646-4233
SPIN-code: 6424-0012
Scopus Author ID: 57827637400
MD
Россия, 3 Pekhotnaya street, 123182 Moscow, RussiaSherzod Abdullaev
City Clinical Hospital 52, Moscow, Russia
Email: abdullaevsp@gmail.com
ORCID iD: 0000-0001-9001-1499
SPIN-code: 1727-2158
Scopus Author ID: 57207729352
PhD;
3 Pekhotnaya street, 123182 Moscow, RussiaIrina Evsegneeva
The First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia
Email: Ivevsegneeva@yandex.ru
ORCID iD: 0000-0002-6624-1363
SPIN-code: 6467-4120
Scopus Author ID: 22134195400
Dr. Sci. (Med.), Professor
Россия, 8-2 Trubetskaya str. Moscow, Russian Federation 119991Alexander V. Karaulov
The First Sechenov Moscow State Medical University (Sechenov University)Life Improvement by Future Technologies (LIFT) Center, Skolkovo, Russia;
Email: drkaraulov@mail.ru
ORCID iD: 0000-0002-1930-5424
SPIN-code: 4122-5565
Scopus Author ID: 58046945000
MD, Dr. Sci. (Med.), Professor, academician of the Russian Academy of Sciences
Россия, 8-2 Trubetskaya str. Moscow, Russian Federation 119991Maryana A. Lysenko
Clinical City Hospital No. 52; The Russian National Research Medical University named after N.I. Pirogov
Email: gkb52@zdrav.mos.ru
ORCID iD: 0000-0001-6010-7975
SPIN-code: 3887-6250
Scopus Author ID: 57073213600
MD, Dr. Sci. (Medicine), Professor
Россия, 3 Pekhotnaya street, 123182 Moscow, RussiaReferences
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