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hyper IgD syndrome; hyperimmunoglobulinemia D & periodic fever syndrome; mevalonate kinase deficiency; HIDS
Epidemiology:
- onset generally < 5 years of age
- occurs in persons of Northern European descent
Pathology:
- mevalonate kinase deficiency
Genetics:
- autosomal recessive
Clinical manifestations:
- recurrent episodes of unexplained high fever associated with skin rash, diarrhea, lymphadenopathy, athralgias &/or arthritis
- attacks last 3-7 days
- abdominal pain, vomiting
- pleuritis is rare
- symmetric polyarthrtis of large joints
- cutaneous vasculitis
- diffuse maculopapular rash [3]
Laboratory:
- serum IgD, & often serum IgA, are elevated
Management:
- NSAIDs
- glucocorticoids
- canakinumab (Ilaris) may be helpful in controlling flares [4]
General
hereditary periodic fever syndrome; periodic fevers; recurrent fever syndrome; familial autoinflammatory disease
Database Correlations
OMIM 260920
References
- OMIM :accession 260920
- INFEVERS; note=repertory of FMF & hereditary autoinflammatory
disorders mutations
http://fmf.igh.cnrs.fr/ISSAID/infevers/page2.php?n=3
- Medical Knowledge Self Assessment Program (MKSAP) 16, 17.
American College of Physicians, Philadelphia 2012, 2015
- De Benedetti F, Gattorno M, Anton J et al
Canakinumab for the Treatment of Autoinflammatory Recurrent
Fever Syndromes.
N Engl J Med 2018; 378:1908-1919. May 17, 2018
PMID: 29768139
https://www.nejm.org/doi/full/10.1056/NEJMoa1706314