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Cardiovascular manifestations of monogenic periodic fever syndromes

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Abstract

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.

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Abbreviations

ADMA:

Asymmetric dimethyl arginine

ANS:

Autonomic nervous system

BD:

Behçet’s disease

CAPS:

Cryopyrin-associated periodic syndrome

CIMT:

Carotid intima-media thickness

EMPs:

Endothelial microparticles

FCAS:

Familial cold autoinflammatory syndrome

FMF:

Familial Mediterranean fever

HIDS:

Hyper immunoglobulin D syndrome

HDL:

High-density lipoprotein

HRV:

Heart rate variability

IgAV:

Immunoglobulin-A vasculitis

IL:

Interleukin

IRAP:

Idiopathic recurrent acute pericarditis

LDL:

Low-density lipoprotein

MEFV:

Mediterranean fever

MKD:

Mevalonate kinase deficiency

MVK:

Mevalonate kinase

MWS:

Muckle-Wells syndrome

NLRP3-AIDs:

NLRP3-associated autoinflammatory diseases

NOMID/CINCA:

Neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome

PAN:

Polyarteritis nodosa

PFS:

Periodic fever syndromes

SAA:

Serum amyloid A

TG:

Triglyceride

TRAPS:

Tumor necrosis factor receptor-associated periodic syndrome

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Authors and Affiliations

  1. Division of Pediatric Rheumatology, Department of Pediatrics, Kocaeli University Faculty of Medicine, Izmit, Kocaeli, Turkey

    Hafize Emine Sönmez

  2. Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Sıhhiye, 06100, Ankara, Turkey

    Yağmur Bayındır & Ezgi Deniz Batu

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  1. Hafize Emine Sönmez
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  2. Yağmur Bayındır
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  3. Ezgi Deniz Batu
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Correspondence to Ezgi Deniz Batu.

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Sönmez, H.E., Bayındır, Y. & Batu, E.D. Cardiovascular manifestations of monogenic periodic fever syndromes. Clin Rheumatol 42, 2717–2732 (2023). https://doi.org/10.1007/s10067-023-06504-z

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