Title:Rare Clinical Case of Cryopyrin-associated Periodic Syndrome Presented
with Ankylosing Spondylitis: A Case Report
Volume: 18
Issue: 4
Author(s): Anna A. Zayaeva, Lyudmila V. Sokolova, Denis V. Shaduro, Andrey V. Petrov, Shanmugaraj Kulanthaivel*Vitalii B. Kaliberdenko
Affiliation:
- Science and Research Department, Naarayani Multi Speciality Hospital, Kavindapadi,
Erode, Tamilnadu, India
Keywords:
Cryopyrin-associated periodic syndrome, IL-1β, IL-1β inhibitor, canakinumab, NLRP3 gene mutation, NSAIDs, ankylosing spondylitis, Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS).
Abstract:
Background: Cryopyrin-Associated Periodic Syndrome (CAPS) is a variety of clinical
variants of autoinflammatory diseases. The pathology is based on a mutation in the NLRP3 gene
encoding the cryopyrin protein, which leads to the uncontrolled production of interleukin-1β. Particular
attention should be paid to the rarity of this disease and the lack of clinical knowledge about
it in therapeutic and rheumatological practice, which leads to an erroneous diagnosis and the appointment
of ineffective treatment for a long time, leading to the progression of the disease and disability
of the patient.
Case Presentation: This article describes a clinical case of this disease. The first manifestations of
the disease in a woman appeared from the age of 2 years, in the form of a rash and fever. Since
school age, there have been signs of arthritis. By the age of 24, sensorineural hearing loss and pain
in the spine were evident. The disease occurred under the clinical manifestations of spondyloarthritis.
Its treatment with anti-inflammatory therapy did not give a stable result.
Conclusion: From the analysis, we can conclude that patient M. from early childhood suffers from
a severe Neonatal-onset Multisystem Inflammatory Disease of a genetic nature. For a long time,
the patient was diagnosed with ankylosing spondylitis, and appropriate treatment was carried out
without significant success. The correct diagnosis of CAPS was made only in 2018. This patient
has conditions of both CAPS and AS together, which is a very rare association in rheumatological
practice. The only treatment method that could stop the manifestations of the disease and prevent
life-threatening kidney damage (amyloidosis) is the use of genetically engineered biological drugs,
i.e., IL-1β inhibitors. The only drug of this group registered in Russia is canakinumab (Ilaris®).
From the moment of diagnosis to the present day, the patient is treated with the genetically engineered
drug canakinumab (Ilaris®) at a dose of 150 mg once every 8 weeks. 6 months after taking
the drug, the patient went into complete clinical and laboratory remission.