Table 3

Recommendations for monitoring of CAPS, TRAPS and MKD

LSAgree (%)
Monitoring—overarching principles
 Monitoring of disease activity and damage is important in patients with AID and should be done regularly4D93.8
 Monitoring frequency should depend on disease severity and activity4D93.8
 The Autoinflammatory Diseases Activity Index (AIDAI) is a validated tool to assess disease activity and should be used in clinical studies of patients with TRAPS and MKD2BB100
 Physicians should consider other potential causes (eg, infections) when patients experience inflammatory episodes that are atypical of their disease4D100
 Prior to therapy with biological agents, consideration should be made to give live and killed vaccines as appropriate. There are currently insufficient safety data to recommend live vaccines during therapy with biological agents.4D100
Monitoring CAPS
 Monitoring in all patients with CAPS should include:
▸ General physical examination, emphasising musculoskeletal and neurological examination, and growth and development of children
▸ Blood count and inflammatory parameters, such as C-reactive protein (CRP) and serum amyloid A (SAA), if available
▸ Disease activity, using a validated tool
▸ Hearing (audiograms) and ophthalmological examination
▸ Testing for proteinuria
▸ Impact of disease on well-being, functioning and social participation
4D100
 For monitoring the disease course of patients with more severe phenotypes, consider including the following tests:
▸ Cognitive testing
▸ Lumbar puncture (pressure, cells, protein level)
▸ Bone MRI and skeletal X-ray
▸ Brain MRI (including imaging of the inner ear)
4D100
Monitoring TRAPS
 Monitoring in all patients with TRAPS should include:
▸ General physical examination and growth and development of children.
▸ Full blood count and inflammatory parameters, such as CRP and SAA, if available
▸ Disease activity, using a validated tool
▸ Testing for proteinuria
▸ Impact of disease on well-being, functioning and social participation
4D100
 Interpretation of the significance of the R92Q and P46L sequence variants can be difficult. These occur at a high frequency in healthy controls, and their pathogenic significance remains contentious. Some individuals develop a clinical phenotype of TRAPS, although sometimes with shorter and/or more frequent fever episodes.2BB100
 Generally, patients carrying R92Q or P46L have milder disease and a better prognosis (improvement over time; and low risk of AA amyloidosis) compared with structural TNFRSF1A mutations.1BB89.5
 Patients with chronic, persistent disease activity have a higher risk of developing AA amyloidosis.2BB100
Monitoring MKD
 Monitoring in all patients with MKD should include:
▸ General physical examination; and growth and development of children
▸ Full blood count and inflammatory parameters, such as CRP and SAA, if available
▸ Disease activity, using a validated tool
▸ Analysis for proteinuria and haematuria
▸ Impact of disease on well-being, functioning and social participation
▸ Ophthalmological examination
4D87.5
 For monitoring the disease course of patients with more severe phenotypes, consider including the following examinations:
▸ Cognitive testing
▸ Muscle and liver enzymes
▸ Specific neurological examination
4D100
 Besides infections, physicians should also be alert to the possibility of macrophage activation syndrome in patients with MKD.3C100
  • L, level of evidence; 1B, prospective cohort study with good follow-up; 2B, retrospective cohort study, or prospective with poor follow-up; 3, non-consecutive or limited cohort study; 4, case series or expert opinion. S, strength of recommendation; B, based on level 2 or extrapolated from level 1; C, based on level 3 or extrapolated from level 1 or 2; D, based on level 4 or extrapolated from level 3 or 4 evidence.15 Agree, percentage of experts who agreed on the recommendation during the final voting round of the consensus meeting.

  • AID, autoinflammatory diseases; CAPS, cryopyrin-associated periodic syndromes; MKD, mevalonate kinase deficiency; TRAPS, tumour necrosis factor receptor-associated periodic syndrome.