Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient

Paediatr Drugs. 2017 Aug;19(4):303-311. doi: 10.1007/s40272-017-0232-6.

Abstract

Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD). Recent advances in our understanding of the molecular and pathophysiological basis of autoinflammatory diseases have provided new treatment strategies. Patients with periodic fever syndromes have clearly benefited from anti-interleukin (IL)-1 treatment. Colchicine is still the mainstay of FMF therapy, but IL-1 blockade is also effective if colchicine fails. Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined.

Publication types

  • Review

MeSH terms

  • Antibodies, Monoclonal / therapeutic use
  • Child
  • Colchicine / therapeutic use
  • Cryopyrin-Associated Periodic Syndromes / diagnosis
  • Cryopyrin-Associated Periodic Syndromes / drug therapy
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / drug therapy
  • Fever / diagnosis
  • Fever / drug therapy
  • Hereditary Autoinflammatory Diseases / diagnosis
  • Hereditary Autoinflammatory Diseases / drug therapy*
  • Humans
  • Interleukin-1 / antagonists & inhibitors
  • Interleukin-1 / immunology
  • Mevalonate Kinase Deficiency / diagnosis
  • Mevalonate Kinase Deficiency / drug therapy
  • Treatment Outcome

Substances

  • Antibodies, Monoclonal
  • Interleukin-1
  • Colchicine

Supplementary concepts

  • Periodic fever, familial, autosomal dominant