Treatment of hereditary autoinflammatory diseases

Curr Opin Rheumatol. 2014 May;26(3):252-8. doi: 10.1097/BOR.0000000000000059.

Abstract

Purpose of review: The purpose of this review is to summarize recent advances in the treatment of the hereditary autoinflammatory diseases, focusing on Familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndromes (CAPS) and mevalonate kinase deficiency (MKD). We discuss recently published studies and their implications for current patient care and future clinical research.

Recent findings: Interleukin (IL)-1 blockade is effective in most autoinflammatory conditions. Younger patients require a higher dose per kg of body weight. In FMF, colchicine remains the treatment of choice. Single daily dosing appears adequate. When colchicine fails, IL-1 blockade is effective. In CAPS, the beneficial effect of IL-1 blockade is sustained, and side-effects are limited. There is no evidence that one IL-1 blocker is superior to the other. In TRAPS and MKD, IL-1 blockade appears effective. Some patients have sufficient suppression of inflammatory symptoms with NSAIDs or corticosteroids.

Summary: Apart from CAPS and FMF, therapy of autoinflammatory diseases is based on small and retrospective studies. IL-1 blockade appears effective, but larger prospective trials are needed, especially in MKD, TRAPS and colchicine-resistant FMF patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biological Products / therapeutic use
  • Colchicine / therapeutic use
  • Cryopyrin-Associated Periodic Syndromes / drug therapy
  • Familial Mediterranean Fever / drug therapy
  • Hereditary Autoinflammatory Diseases / drug therapy*
  • Humans
  • Interleukin-1 / antagonists & inhibitors
  • Mevalonate Kinase Deficiency / drug therapy
  • Severity of Illness Index

Substances

  • Biological Products
  • Interleukin-1
  • Colchicine