Abstract:
Background. Systemic autoinflammatory diseases are a heterogeneous group of
disorders characterized by recurrent or persistent sterile inflammation caused mainly by
dysregulation of the innate immune system. In children, symptoms may include fever,
rash, serositis, arthritis, abdominal pain, mucosal lesions, ocular inflammation, bone
pain, or systemic inflammatory complications. Because their manifestations often
overlap with infection, malignancy, immunodeficiency, and autoimmune disease,
diagnostic delay remains a major clinical problem.
Aim. To summarize the key clinical features, diagnostic principles, and therapeutic
approaches to pediatric autoinflammatory diseases, with emphasis on their relevance in
Ukraine.
Main theses. Autoinflammatory diseases should be suspected in children with
recurrent, stereotyped inflammatory episodes, elevated inflammatory markers during
flares, poor response to antibiotics, and absence of confirmed infectious cause. The
diagnostic process should be phenotype-driven and include assessment of age at onset,
attack duration, periodicity, triggers, family history, ethnicity, organ involvement, and
laboratory dynamics between attacks. The pediatric spectrum includes PFAPA, familial
Mediterranean fever, CAPS, TRAPS, mevalonate kinase deficiency/HIDS, chronic
nonbacterial osteomyelitis, interferonopathies, and other rare monogenic or
multifactorial conditions. Genetic testing is important, especially in early-onset, severe
or atypical disease, but results must be interpreted in the context of the clinical
phenotype. Treatment depends on the underlying inflammatory pathway. Colchicine, IL-
1 blockade, JAK-inhibitors, anti-TNF, others biological drugs and steroids had
significantly improved outcomes in several severe systemic autoinflammatory diseases.
Ukrainian context. According to the presented Ukrainian data, 38 patients with serious
systemic autoinflammatory diseases and more than 150 patients with PFAPA have been
identified. Diagnostic delay is usually 3-7 years and may reach 20-30 years. Ukraine has
state-funded access to IL-1 inhibitors, national guidelines, international cooperation, and
active patient advocacy. However, low awareness, limited local genetic and functional
testing, absence of a dedicated national center and the impact of the Russian invasion
remain important barriers.
Conclusions. Early recognition of autoinflammatory diseases in children requires
clinical awareness, structured diagnostic reasoning, and access to targeted therapy. In
Ukraine, priority should be given to education, referral pathways, diagnostic capacity,
registry development, and uninterrupted biologic treatment.
