ASIA syndrome masked as recurrent angioedema: сan development be predicted by genetic screening (pilot study)

Fomina D.S. Lebedkina M.S. Nikitina E.A. Kovalkova E.V. Andrenova G.V. Kruglova T.S. Bobrikova E.N. Markina U.A. Abdullaev S.P. Evsegneeva I.V. Karaulov A.V. Lysenko M.A.
3 June 2025 Pharmarus Print Media

Russian Journal of Allergy
2025 #22 Issue 2 135 - 152 pp.

BACKGROUND: ASIA is an autoimmune/inflammatory syndrome induced by adjuvants. Symptoms can be diverse, and the recurrent angioedema is one of the dominant manifestations. Genetic screening is discussed as a preventive option. The following alleles of genes: HLA type II (DRB1*0301 or in combination with HLA-B*08, DRB1*01, and DRB4), as well as Arg620Trp polymorphism in the PTPN22 gene are discussed as a cause of autoimmune diseases, including ASIA syndrome. AIM: To identify the presence of causative genetic factors in patients with ASIA syndrome by genetic screening, to identify adjuvants acting as a trigger, and to evaluate the efficacy of current therapy. MATERIALS AND METHODS: A single center observational study of 16 patients with ASIA syndrome and 10 controls was performed. Genetic screening was performed in 14 patients from the ASIA group and 10 patients from the control group. Further inclusion of patients in the study is planned. RESULTS: All patients with ASIA were women, potential triggers included hyaluronic acid fillers 10/16 (62.5 %), including in combination with breast silicone implants 1/16 (6.25 %), arthroplasty with shoulder joint replacement 1/16 (6.25 %), face hyaluronic acid injections 5/16 (31.25 %), and calcium hydroxyapatite 1/16 (6.25 %). The main site of angioedema was the face 15/16 (93.75 %), also larynx (1/16 (6.25 %)), upper (2/16) and lower extremities (1/16 (6,25 %)). Other symptoms included arthralgia, myalgia, muscle weakness — 1/16 (6.25%), hypocomplementemic urticarial vasculitis, lymphocytic colitis — 1/16 (6.25 %), arthralgia combined with lymphadenopathy — 1/16 (6.25 %), chronic spontaneous and solar urticaria — 1/16 (6.25 %), fixed erythema of the shoulder skin with fever, antiphospholipid syndrome — 1/16 (6.25 %), normocomplementemic urticarial vasculitis — 1/16 (6.25 %), Still’s disease — 1/16 (6.25 %). Autoimmune response was represented by autoantibodies in 10 (62.5 %) of 16 patients. Ten (62.5 %) patients received non-sedative antihistamines at standard and escalated doses (5 as monotherapy, 1 in combination with filler removal, 1 with hydroxychloroquine, 3 with hydroxychloroquine and omalizumab), 1 (6.25 %) received tranexamic acid, 1 (6.25 %) with danazol, 1 (6.25 %) with hydroxychloroquine, and 3 (18.75 %) patients received no therapy. A combination of two genetic factors was detected in 3 (21.4 %) patients: DRB1*0301, B1*08 (in 2 patients additionally Arg620Trp polymorphism). Isolated Arg620Trp polymorphism was detected in 6 (42.8 %) patients. CONCLUSION: Genetic factors increasing the risk of autoimmune conditions were found in 9 out of 16 patients. No genetic abnormalities were found in the control group. More than half of the patients with ASIA syndrome had genetic factors associated with autoimmunity. Further studies are needed to create reliable diagnostic and treatment algorithms.

angioedema , ASIA syndrome , genetic screening

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Moscow City Hospital 52, Moscow, Russian Federation
The First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russian Federation
Astana Medical University, Astana, Kazakhstan
LIFT Center LLC, Moscow, Russian Federation
The Russian National Research Medical University named after N.I. Pirogov, Moscow, Russian Federation

Moscow City Hospital 52
The First Sechenov Moscow State Medical University (Sechenov University)
Astana Medical University
LIFT Center LLC
The Russian National Research Medical University named after N.I. Pirogov

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