Session Information
Session Type: Abstract Submissions (ACR)
Background/Purpose:
We recently reported a new disease designated as NOD2-associated autoinflammatory disease (NAID). The aim of this study was to update the progress on defining the disease.
Methods:
A single tertiary medical center study and report of cases of NAID were comprehensively analyzed and summarized. The phenotypes, genotypes, and therapy of NAID were characterized based upon the author’s own experience and publications with the disease.
Results:
NAID does not appear very rare, and may account for approximately 1% of our Rheumatology outpatients of Cleveland Clinic. White adults of both men and women are equally affected, and NAID is largely sporadic and occasionally familial. This disease may have fever, weight loss and fatigue, and is characterized by periodic occurrence, dermatitis, inflammatory polyarthritis, distal lower extremity swelling, gastrointestinal (GI), and sicca-like symptoms. Acute phase reactants can be elevated, autoantibodies are absent, and NOD2 gene mutations (variants), mostly IVS8+158, R702W, and occasionally R703C are associated with the disease. NAID is distinct from Blau’s syndrome.
Table 1 Differentiating features between NAID and Blau’s syndrome
|
|
NAID |
Blau’s syndrome |
|
Age at onset |
Adult |
< 5 years |
|
Fever |
Several days |
Rare |
|
Serositis |
Can be present |
Absent |
|
Joints |
Polyarthritis, pedal swelling |
Polyarthritis, granulomatous, Camptodactyly |
|
Skin |
Spongiotic dermatitis, primarily erythematous patches/plaques |
Granulomatous dermatitis, mostly papulonodular and subcutaneous plaques |
|
GI symptoms |
Present 50% |
Absent |
|
Uveitis |
Absent |
Present |
|
Inheritance |
Mostly sporadic |
Dominant |
|
Gene mutations |
NOD2: between LRR and NBD |
NOD2: NBD |
|
Therapy |
GC, Sulfasalazine |
NSAID, GC, Infliximab |
NAID, NOD2 associated autoinflammatory disease; GI, gastrointestinal; LRR, leucin-rich repeat; NBD, nucleotide binding domain; NSAID, nonsteroidal antiinflammatory drug; GC, glucocorticoids
The pathogenesis of NAID is unclear currently; the interaction between NOD2 gene mutations and environment may play a role. Therapy for NAID should be individualized, depending on clinical manifestations. Glucocorticoids of small dose are used to successfully treat skin disease and to temporarily relieve polyarthritic symptoms. Sulfasalazine is helpful in joint, skin and GI symptoms in some cases. Biologics need to be defined. Most patients run an intermittent benign course.
Conclusion:
NAID represents a polygenic autoinflammatory disorder, and it often poses diagnostic challenges, leading to superfluous workups. This report should alert physicians to the novel entity.
Disclosure:
Q. Yao,
None;
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