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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