[PAGID] Hyper IgD Experience?

[Belohradsky, Bernd Prof.Dr.]

Dear colleague,
You may have read the very complete publication on the subject: 
J.C.H.van der Hilst et al, Medicine(2008)87:301-310 (most experienced Dutch research group under J.van der Meer et al., who first described the disease, Lancet 1:1087-1090,1984)
Your clinical description makes HIDS very probable, even with a relatively low IgD (is serum-IgA elevated ?);
Urinary mevalonic-acid and mevalonate-kinase measured in leukocytes do not make the diagnosis; genetic analysis is mandatory (and offered by many labs; e.g. Dr.D.Kastner et al, NIH)
Treatment is  still an unresolved problem; steroids given once or twice in the very beginning of an attack (1-2mg/kg bw/day) may prevent from the  5- 7 days lasting fever episode (also our experience with > 40 patients) . Anakinra and etanercept have been used with inconsistent interindividual (longterm) results. Studies comparing different therapeutic options have so far not been performed. Canakinumab (anti-IL1-antagonist(Novartis) may become a better choice, studies are ongoing).
Kind regards,Bernd H.Belohradsky (pediatrics,immunology,infectious diseases,Munich,Germany) (bernd.belohradsky at med.uni-muenchen.de)   

-----Ursprüngliche Nachricht-----
Von: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von raas0027 at umn.eduf
Gesendet: Dienstag, 4. Mai 2010 23:17
An: pagid at list.clinimmsoc.org
Betreff: [PAGID] Hyper IgD Experience?

Dear Colleagues,

Please consider this patient:

Eight YEAR old boy with fevers every 4 weeks; onset at age < 6 MONTHS OF 
AGE;
fevers lasting 4-6 days; prodrome of arthritis and myalgias (and often 
aphthous ulcers); leukocytosis and elevated ESR and CRP with fevers; 
elevated IgD of 26 mg/dL (reference 0-10 mg/dL, Mayo Clinical 
Laboratories); and European ancestry, no family history of recurrent 
fevers. Things such as JIA, SLE, occult infection, primary immune 
deficiency, etc have essentially been ruled out.

Hyper-IgD syndrome is probable. I have reviewed a fair amount of literature 
illustrating the caveats in presentation, diagnosis and treatment of the 
various auto-inflammatory syndromes BUT I AM HOPING FOR COMMENTS FROM YOUR 
OWN EXPERIENCE:

1. Any utility in measuring urinary mevaloniic acid during an attack (there 
is certainly debate about this, eg. van der Meer et al NEJM 12-31-2001 and 
commentary).  It would be interesting, but necessary?

2. Any experience with commercial gene sequencing (e.g. GeneDx) for this 
(these) disorders? Can be expensive but may help justify treatment?

3. What is your experience with infliximab/etanercept/adalimumab or 
anakinra?

Thank you for input for this case and to everyone for all the great 
'chatter' on the PAGID listserve over the last week.

Regards,

Jason


-- 
Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N
Suite 110
Plymouth, MN 55446

(Phone) 763.577.0008
(FAX)   763.5770192