Cardiovascular manifestations of monogenic periodic fever syndromes


Clinical Rheumatology, vol.42, no.10, pp.2717-2732, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 42 Issue: 10
  • Publication Date: 2023
  • Doi Number: 10.1007/s10067-023-06504-z
  • Journal Name: Clinical Rheumatology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.2717-2732
  • Keywords: Cardiac involvement, Cardiovascular disease, Pericarditis, Periodic fever syndromes
  • Hacettepe University Affiliated: Yes


© 2023, The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).Periodic fever syndromes (PFS) are a group of autoinflammatory diseases characterized by repeated febrile episodes and systemic inflammation. The most common monogenic periodic fever syndromes are familial Mediterranean fever, mevalonate kinase deficiency/hyper immunoglobulin D syndrome, cryopyrin-associated periodic syndrome, and tumor necrosis factor receptor-associated periodic syndrome. Although fever is the predominant feature of PFS, other systems, including the cardiovascular system, may be involved in the disease process. This review focuses on cardiovascular risks and issues in monogenic PFS. Cardiovascular involvement may occur as a disease manifestation, association, or result of complications or a drug’s adverse effects in monogenic PFS. Pericarditis seems to be a feature of PFS. Patients with recurrent pericarditis or pericarditis resistant to conventional treatment should be evaluated for PFS. Amyloidosis is the most severe complication of PFS, increasing the risk of cardiac morbidity. Furthermore, ongoing inflammation may result in early atherosclerosis. Therefore, assessing cardiovascular risks in PFS patients should be considered a part of routine care.Key points• Pericarditis is the most common cardiac involvement of monogenic periodic fever syndromes (PFS), while some forms may present with myocarditis.• Amyloidosis, the most significant complication of PFS, may lead to deterioration in cardiac functions.• Ongoing inflammation in PFS may result in endothelial dysfunction and atherosclerosis.• Effective control of inflammation and reducing concomitant risk factors such as obesity, diabetes mellitus, and hypertension could improve cardiovascular outcomes in PFS patients.