Rare diseases

Rare autoinflammatory diseases: recommendations


A European taskforce has published recommendations on the diagnosis, treatment and monitoring of rate autoinflammatory diseases CAPS, TRAPS and MKD.

The expert committee of paediatric and adult rheumatologists developed four overarching principles, 20 recommendations on therapy and 14 recommendations on monitoring.

Treatment recommendations: 

CAPS

  • IL-1 inhibition is indicated for the whole spectrum of CAPS, at any age
  • To prevent organ damage, long-term IL-1 inhibition should be started as early as possible in patients with active disease
  • There is no evidence for the efficacy of DMARDs or biological therapy other than IL-1 blockade in CAPS
  • For symptomatic adjunctive therapy, short courses of NSAIDs and corticosteroids may be used, but they should not be used for primary maintenance therapy
  • In patients with CAPS, adjunctive therapy (eg, physiotherapy, orthotic devices, hearing aids) is recommended as appropriate

TRAPS

  • NSAIDs may provide symptom relief during inflammatory attacks
  • Short-term glucocorticoids, with or without NSAIDs, are effective for terminating inflammatory attacks
  • The beneficial effect of corticosteroids can decline over time so that increasing doses are required to achieve an equivalent response
  • IL-1 blockade is beneficial in the majority of patients with TRAPS.
  • Etanercept can be effective in some patients, but the effect might decline over time
  • With frequent attacks and/or subclinical inflammation between attacks, maintenance therapy with IL-1 blockade or etanercept is recommended and may limit corticosteroid exposure
  • If one IL-1 blocking agent at adequate dose is ineffective or intolerable, a switch to etanercept or another IL-1 blocking agent should be considered
  • Likewise, if etanercept is ineffective or intolerable, a switch to an IL-1 blocking agent should be considered
  • Although a beneficial effect is reported in a few cases, the use of anti-TNF monoclonal antibodies is not advised, due to the possible detrimental effect

MKD

  • NSAIDs may provide symptom relief during inflammatory attacks
  • Short-term glucocorticoids, with or without NSAIDs, may be effective for alleviating inflammatory attacks
  • Colchicine or statins are not efficacious; therefore we do not recommend their use
  • Short-term IL-1 blockade may be effective for terminating inflammatory attacks and should be considered to limit or prevent steroid side effects
  • With frequent attacks and/or subclinical inflammation between attacks, maintenance therapy with IL-1 blockade or etanercept is recommended, and may limit corticosteroid exposure
  • If one IL-1 blocking agent at adequate dose is ineffective or intolerable, a switch to another IL-1 blocking agent or another biological agent (including TNF-α blockade or IL-6 blockade) should be considered.
  • Likewise, if TNF-α blockade is ineffective or intolerable, a switch to another biological agent (including an IL-1 or IL-6 blocking agent) should be considered
  • In selected cases with severe refractory disease with poor quality of life, referral to a specialist centre for consideration of allogeneic haematopoietic stem cell transplantation is recommended.

Level of evidence and recommendations on diagnosis and monitoring can be found in the full text paper here (subscription required).

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