Disease specific monitoring of CAPS, TRAPS, MKD and DIRA*
| For all diseases, systemic inflammation needs to be monitored | ||
| A. Monitoring of systemic inflammation in all diseases | Frequency | |
| ESR, CRP, CBC+differential (granulocytosis), S100 proteins and SAA where available, hepatosplenomegaly, lymphadenopathy, fatigue | Each visit | |
| Urinalysis to monitor proteinuria (AA amyloidosis) | Every 6–12 months | |
| Monitor growth, BMD, sexual development | Each visit as indicated | |
| B. Monitoring of disease-specific symptoms* and patient-related outcomes | ||
| CAPS | Fever, rash (urticaria-like), progressive hearing loss, headaches, early morning nausea and vomiting, musculoskeletal symptoms, conjunctivitis, cognitive development (severe disease) | Each visit |
| TRAPS | Fever, rash (migratory), periorbital oedema, pain (abdomen, chest, testicular), myalgia | Each visit |
| MKD | Periodic fever attacks (including triggered sequencing), rash (urticarial or maculopapular), gastrointestinal symptoms (abdominal pain, diarrhoea, vomiting), cervical lymphadenopathy, aphthous stomatitis, cognitive impairment in severe cases | Each visit |
| DIRA | Pustular psoriasis-like rashes (pathergy), musculoskeletal (bone) pain (caused by osteomyelitis), nail changes | Each visit |
| Patient-related outcomes for all four diseases | QoL, PGA, PPGA, missing school/work days | Each visit |
| C. Monitoring of organ manifestations/damage† | ||
| CAPS | ||
| Amyloidosis | Urinalysis | Each visit |
| Hearing loss (S) | Audiogram | 3–6 months until stable then every 6–12 months |
| Eye disease (S) | Ophthalmologic examination (vision, retina evaluation and slit lamp examination) | 6–12 months |
| CNS disease (S) | Lumbar puncture, head MRI (with special evaluation of cochlea, cerebral atrophy and ventriculomegaly) | 12–36 months depending on symptoms |
| Bone deformity (S) | Bone MRI, scanogram to monitor limb length, epiphysial overgrowth | 12–36 months depending on symptoms |
| TRAPS | ||
| Amyloidosis | Urinalysis | Each visit |
| Bone deformity (S) | Bone MRI, X-ray examination | 12–36 months depending on symptoms |
| MKD | ||
| Amyloidosis | Urinalysis | Each visit |
| Eye disease (S) | Ophthalmologic examination | As needed |
| Neurologic involvement (S) | Neuropsychological testing | As needed |
| DIRA | ||
| Spinal and bone deformities (S) | Neck, spine MRI (vertebral osteomyelitis), bone X-ray/MRI, corrective surgery or spinal fusion | As needed |
| D. Monitoring of treatment-related complications (interleukin-1 blocking treatments) | ||
| Infections | Clinical history, skin infections, other infections | Each visit |
| Laboratory work | CBC+differential, LFTs, urinalysis, renal function, lipid profile | Each visit |
*The following instruments can be used for symptom monitoring: autoinflammatory diseases activity index (AIDAI), for damage assessment the Autoinflammatory Disease Damage Index (ADDI), for quality of life (QoL), physician global assessment (PGA), patient’s/parent’s global assessment (PPGA) (S) may require subspecialty care.
†The following instruments can be used for symptom monitoring: autoinflammatory diseases activity index (AIDAI), for damage assessment the Autoinflammatory Disease Damage Index (ADDI), for quality of life (QoL), physician global assessment (PGA), patient’s/parent’s global assessment (PPGA).
‡S) denotes may require subspecialty care.
BMD, bone mineral density; CAPS, cryopyrin-associated periodic syndromes; CBC, complete blood count; CNS, central nervous system; COVID-19, coronavirus disease 2019; CRP, C-reactive protein; CRP, C-reactive protein; DIRA, deficiency of the interleukin-1 receptor antagonist; ESR, erythrocyte sedimentation rate; ESR, erythrocyte sedimentation rate; LFT, liver function test; MKD, mevalonate kinase deficiency; MRI, magnetic resonance imaging; SAA, serum amyloid A; TRAPS, tumour necrosis factor receptor-associated periodic syndrome.