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Table 6 General advice concerning algorithms for primary imaging of patients with autoinflammatory diseases

From: Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Disease Presenting symptom/clinical question Imaging modality
FMF Abdominal pain - Abdominal radiograph and US
- If negative aforementioned examinations and ongoing clinical concern: CT (oral and intravenous contrast) or MRI. Injection of gadolinium for MRI will depend on pre-contrast enhancement findings.
- In case of chromic enteritis: MRE
Joint pain - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
- MRI (contrast-enhanced): synovitis and osteochondral changes
TRAPS Myositis/fasciitis MRI (contrast-enhanced if suspicion of superimposed collection or osteomyelitis)
MKD/HIDS Cerebellar ataxia MRI (contrast-enhanced if suspicion of cerebellitis)
Joint pain - Initial imaging: X-rays
- Ultrasound: if suspicion of joint fluid or synovitis
MRI (contrast-enhanced): synovitis and osteochondral changes
NOMID CNS/hearing manifestations MRI of brain and inner ear (contrast-enhanced)
Bone and joint abnormalities - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
MWS Joint pain - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
Headache, CNS manifestations MRI of brain (inner ear) (contrast-enhanced)
Blau Joint manifestations - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
Hepatic and renal granulomas Ultrasound of abdomen (including high-resolution scans)
Renal medullary nephrocalcinosis Ultrasound of kidneys (including high-resolution scans)
Interstitial lung disease CT of the chest (high resolution)
Stroke MRI of brain (contrast-enhanced)
Lymphadenitis/swelling Ultrasound (gray-scale) of region-of-interest (including color/power Doppler)
Large vessel vasculitis US, MRA or CTA (in rare circumstances conventional angiogram
PAPA Arthritis - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
Nephrocalcinosis Ultrasound of kidneys (including high-resolution scans)
Intestinal lesions Ultrasound (gray-scale and color/power Dopler), MRE
Perianal disease MRI of the pelvis (with small field-of-view and use of gadolinium)
CNS vasculitis MRI of the brain including MRA or CTA
DIRA MSK manifestations - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
CNS vasculitis MRI of the brain (contrast-enhanced)
NLRC4-MAS Enterocolitis Ultrasound of the bowel (with color/power Doppler)
SIFD Hepatosplenomegaly and Nephrocalcinosis Ultrasound of abdomen
HA20 deficiency Joint pain/arthritis - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
IL10 def Early onset inflammatory bowel disease Ultrasound then MRE
Perianal disease MRI of the pelvis (with small field-of-view and use of gadolinium)
DADA2 Stroke MRI of the brain with MRA
Vasculitis US, MRA or CTA. Rarely, conventional angiogram
Aicardi-Goutieres syndrome CNS manifestations Brain CT and MRI (depending on the diagnosis, use of gadolinium).
MSK manifestations - Initial imaging: X-rays
- Ultrasound: if suspicion of fluid or synovitis
MRI (contrast-enhanced): for assessment of synovitis and osteochondral changes
  1. FMF familial Mediterranean fever; TRAPS tumor necrosis factor receptor-associated periodic syndrome; MKD Mevalonate kinase deficiency; HIDS hyperimmunoglobulinemia D syndrome; NOMID neonatal onset multisystem inflammatory disease; MWS Muckle-Wells syndrome; PAPA pyogenic arthritis, pyoderma gangrenosum, and acne; DIRA Deficiency of interleukin-1 receptor antagonist; DADA2 deficiency of adenosine deaminase type 2; IL10 def interleukin 10 deficiency; MAS macrophage activation syndrome; HA20 deficiency haploinsufficiency of A20; SIFD sideroblastic anemia with B cell immunodeficiency, periodic fever, and developmental delay; CNS central nervous system; US ultrasound; CT computed tomography; MRE MR enterography; MRA magnetic resonance angiogram; CTA computed tomography angiogram; MSK musculoskeletal