hyper IgD syndrome; hyperimmunoglobulinemia D & periodic fever syndrome; mevalonate kinase deficiency; HIDS
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Epidemiology
- onset generally < 5 years of age
- occurs in persons of Northern European descent
Pathology
- mevalonate kinase deficiency
Genetics
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
Management
- NSAIDs
- glucocorticoids
- canakinumab (Ilaris) may be helpful in controlling flares[4]
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/260920
- ↑ INFEVERS; note=repertory of FMF & hereditary autoinflammatory disorders mutations http://fmf.igh.cnrs.fr/ISSAID/infevers/page2.php?n=3
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 17. American College of Physicians, Philadelphia 2012, 2015
- ↑ 4.0 4.1 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: https://www.ncbi.nlm.nih.gov/pubmed/29768139 https://www.nejm.org/doi/full/10.1056/NEJMoa1706314