Difficulties in cryopyrin-associated periodic syndrome (CAPS) diagnosis in real practice (clinical case)

Abstract

Introduction. Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease that usually occurs in childhood and is characterized by episodes of unexplained fever combined with various organ lesions.

The aim is to analyze a clinical case of late diagnosis of cryopyrin-associated periodic syndrome that debuted in childhood. Materials and methods. A patient with a clinical picture of CAPS who repeatedly sought medical care at the outpatient level. An extended clinical, laboratory, and instrumental examination, including genetic analysis, was performed to conduct a differential diagnosis and verify the CAPS diagnosis.

Results. The clinical observation demonstrated that despite the classic debut of the disease in childhood with periodic fever and a burdened family history, the pediatrician did not have any concerns about the possible CAPS Subsequently, the progressive nature of the disease with severe skin manifestations, joint syndrome, eye damage, and sensorineural hearing loss were also neglected and did not considered as a reason for referring the patient to a rheumatologist. It was only when kidney damage and persistent inflammatory changes in the blood were detected that the possibility of a systemic rheumatic disease was suspected. The diagnosis of CAPS was established by a rheumatologist at in-patient clinic and confirmed by genetic test. The initiation of biological therapy with an interleukin‑1 inhibitor led to a rapid therapeutic effect.

Conclusions. Late diagnosis of orphan diseases remains an urgent problem in practical medicine. An adequate analysis of the clinical picture of the disease and family history is extremely important for the preliminary diagnosis of cryopyrin-associated periodic syndrome. The diagnosis is verified by genetic testing. Timely targeted therapy for CAPS is critical to prevent irreversible organ damage, primarily renal amyloidosis.