РFАРА–syndrome: a literature review and own clinical observation

Abstract

Аutoinflammatory diseases or syndromes (HAIDS) have attracted practical and scientific interest. This group of pathologies is united by similar clinical symptoms in the form of periodic fever, systemic inflammation and other clinical syndromes. PFAPA — syndrome or Marshall's syndrome is one of the most common representatives of this group of diseases. РFАРА syndrome (Marshall's syndrome) is considered an autoinflammatory disease of unknown etiology and not fully studied pathogenesis. Gene mutations, family inheritance and the modifying role of persistent intracellular infections are considered as the causes of development. Genetically determined immune responses and neutrophilic inflammation, the presence of immune dysregulation play a role in the pathogenesis of Marshall's syndrome. The incidence and prevalence of this condition in the pediatric population are unknown. The pathology is characteristic of early childhood, the syndrome is characterized periodic fever, aphthous stomatitis, pharyngitis or tonsillitis and cervical adenitis. Patients do not have disturbances in well-being between episodes, pathognomonic laboratory changes, have normal growth and development indicators. The syndrome occurs in children under 5 years, disappears in adolescence, has good+quality current, the treatment of which is the administration of corticosteroids. The pathology has no specific biological markers, so the diagnosis is made on the basis of clinical manifestations, a thorough analysis of the history and the exclusion of other possible causes of recurrence fever.

Purpose: to highlight the complexity of the diagnosis of PFAPA–syndrome.

Clinical case. The article describes own clinical case of a child with Marshall's syndrome. Recurrent attacks of fever with a specific frequency in combination with aphthous stomatitis, pharyngitis and cervical lymphadenitis, the absence of specific laboratory changes and the positive effect of the corticosteroids treatment it possible to diagnose the above diagnosis.

Conclusion. Literature data and the above clinical case indicate the difficulty of diagnosing this syndrome, long-term irrational drug treatment without clinical effect. So physicians in many specialties need to remember the need for a detailed survey of patients and parents, pay attention to the time and frequency of symptoms described above, and their combinations, if Marshall's syndrome is suspected do not be afraid to prescribe glucocorticosteroids for therapeutic and prophylactic purposes.

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies.