VARIABILITY OF CLINICAL SYMPTOMS OF CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME WITHIN THE FAMILY.

  • Authors: Gazieva E.V.1, Markina U.A.2, Roppelt A.A.2, Zakharova V.V.3,4, Golovina O.A.5, Mutovina Z.Y.5, Zagrebneva A.I.3,6, Petrusenko Y.S.7, Karaulov A.V.8,9, Lysenko M.A.10,11, Fomina D.S.2,8,12
  • Affiliations:
    1. Russian University Of Medicine
    2. Moscow City Hospital 52
    3. State Budgetary Institution of Healthcare “Moscow Clinical Research Center Hospital No. 52 of the Moscow City Health Department”, Moscow, Russia State Budgetary Healthcare Institution “Moscow Clinical Research Center Hospital No. 52 of the Moscow City Health Department”
    4. “National Medical Research Center of Endocrinology named after Academician I. I. Dedov of the Russian Ministry of Healthcare”
    5. Clinical City Hospital No. 52
    6. Federal State Budgetary Educational Institution of Higher Education North-Western State Medical University named after I. I. Mechnikov of the Russian Ministry of Healthcare
    7. Biotek Campus LLC
    8. The First Sechenov Moscow State Medical University (Sechenov University)
    9. LIFT Center LLC
    10. Moscow City Clinical Hospital 52
    11. The Russian National Research Medical University named after N.I. Pirogov
    12. Astana Medical University
  • Section: Case reports
  • Submitted: 24.10.2025
  • Accepted: 26.01.2026
  • Published: 03.02.2026
  • URL: https://rusalljournal.ru/raj/article/view/17065
  • DOI: https://doi.org/10.36691/RJA17065
  • ID: 17065


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Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a group of autoinflammatory diseases caused by mutations in the NLRP3 gene, which lead to excessive production of the proinflammatory cytokine interleukin 1β (IL-1β). Diagnosis is challenging, since many patients have a heterogeneous “multisystem” clinical picture. This publication presents a familial case of the disease with variability of manifestations from “blurred” and asymptomatic to a detailed clinical picture with multisystem involvement (inflammatory activity, fever, urticaria, erythema nodosum, poly- and monoarthritis, uveitis, aphthous stomatitis, headache). Two patients had an atypical presentation of symptoms with predominant involvement of the joints, eyes, and oral mucosa, due to which one of them was initially given an alternative diagnosis of Behcet's disease (BD). Genetic testing made it possible to identify a pathogenic mutation in the NLRP3 gene, verify the diagnosis, and promptly prescribe pathogenetic therapy with an interleukin 1 (IL-1) inhibitor, which is necessary to prevent irreversible organ damage (amyloidosis, sensorineural hearing loss, etc.) and reduce the burden of the disease.

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About the authors

Elina Veltnurovna Gazieva

Russian University Of Medicine

Email: elinagazieva23@yandex.ru
ORCID iD: 0009-0004-5425-584X
Moscow, Russia

Ulyana A. Markina

Moscow City Hospital 52

Author for correspondence.
Email: itchermd@gmail.com
ORCID iD: 0000-0002-6646-4233
SPIN-code: 6424-0012

Allergist-immunologist

Russian Federation, Moscow

Anna A. Roppelt

Moscow City Hospital 52

Email: roppelt_anna@mail.ru
ORCID iD: 0000-0001-5132-1267
SPIN-code: 7249-4423

MD, Cand. Sci. (Medicine)

Russian Federation, Moscow

Victoria Vitalievna Zakharova

State Budgetary Institution of Healthcare “Moscow Clinical Research Center Hospital No. 52 of the Moscow City Health Department”, Moscow, Russia State Budgetary Healthcare Institution “Moscow Clinical Research Center Hospital No. 52 of the Moscow City Health Department” ; “National Medical Research Center of Endocrinology named after Academician I. I. Dedov of the Russian Ministry of Healthcare”

Email: neskvikk@mail.ru
ORCID iD: 0000-0001-5949-5317
SPIN-code: 1491-2770
Russian Federation, Moscow, Russia

Oksana A. Golovina

Clinical City Hospital No. 52

Email: ksan7ch@mail.ru
ORCID iD: 0000-0001-7247-545X
SPIN-code: 1538-3632
Russian Federation, Moscow

Zinaida Yu. Mutovina

Clinical City Hospital No. 52

Email: zmutovina@mail.ru
ORCID iD: 0000-0001-5809-6015
SPIN-code: 3943-7930

MD, Cand. Sci. (Medicine), Assistant Professor

Russian Federation, Moscow

Alеna Igorevna Zagrebneva

State Budgetary Institution of Healthcare “Moscow Clinical Research Center Hospital No. 52 of the Moscow City Health Department”, Moscow, Russia State Budgetary Healthcare Institution “Moscow Clinical Research Center Hospital No. 52 of the Moscow City Health Department” ; Federal State Budgetary Educational Institution of Higher Education North-Western State Medical University named after I. I. Mechnikov of the Russian Ministry of Healthcare

Email: gkb52@zdrav.mos.ru
ORCID iD: 0000-0002-3235-1425
SPIN-code: 6351-4980

канд. мед. наук, доцент

Moscow, Russia

Yunna Sergeevna Petrusenko

Biotek Campus LLC

Email: gkb52@zdrav.mos.ru
ORCID iD: 0009-0002-8318-5241
SPIN-code: 6632-2260
Moscow, Russia

Alexander V. Karaulov

The First Sechenov Moscow State Medical University (Sechenov University); LIFT Center LLC

Email: drkaraulov@mail.ru
ORCID iD: 0000-0002-1930-5424
SPIN-code: 4122-5565

MD, Dr. Sci. (Medicine), Professor

Russian Federation, Moscow; Moscow

Maryana A. Lysenko

Moscow City Clinical Hospital 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

MD, Dr. Sci. (Medicine), Professor

Russian Federation, Moscow; Moscow

Darya S. Fomina

Moscow City Hospital 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

MD, Cand. Sci. (Medicine), Assistant Professor

Russian Federation, Moscow; Moscow; Republic of Kazakhstan, Astana

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