Inborn error of immunity as the cause of recurrent pericarditis
| Autor: | Zane Lucane, Natalja Kurjane, Dace Freidenberga |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Fever Familial Mediterranean fever Case Report 030204 cardiovascular system & hematology Chest pain Pyrin domain 03 medical and health sciences Pericarditis 0302 clinical medicine medicine Humans 030203 arthritis & rheumatology Autoimmune disease business.industry General Medicine Pyrin medicine.disease MEFV Lymphoma Familial Mediterranean Fever Mutation Female Differential diagnosis medicine.symptom Neoplasm Recurrence Local business |
| Zdroj: | BMJ Case Rep |
| ISSN: | 1757-790X |
| Popis: | Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by a pyrin dysfunction, leading to uncontrolled interleukin-1 production that triggers the attacks. Here we report a case of a 36-year-old female patient repeatedly admitted to the cardiology ward with recurrent episodes of pericarditis, with intervals of 1 and 2 months between the episodes. During the attacks, chest pain and fever were the only symptoms. Following the administration of steroids and non-steroidal anti-inflammatory drugs, the patient became afebrile. She also had lymphoma and thyroid carcinoma in anamnesis essential for differential diagnosis. Laboratory tests for infection and autoimmune disease were all negative, and the positron emission tomography–CT scan did not reveal lymphoma relapse. Genetic testing revealed a mutation in the MEFV gene. It is very rare for pericarditis to be the first and only manifestation of FMF. |
| Databáze: | OpenAIRE |
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