Hyperimmunoglobulinemia D with recurrent fever: Difference between revisions
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There are no established measures for the secondary prevention of hyperimmunoglobulinemia D with recurrent fever. | There are no established measures for the secondary prevention of hyperimmunoglobulinemia D with recurrent fever. | ||
==References== | ==References== | ||
==References== | |||
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* {{OMIM|260920}} | * {{OMIM|260920}} | ||
* van der Meer JWM, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJLM, Lobatto S, van Furth R. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984;I:1087-1090. PMID 6144826. | * van der Meer JWM, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJLM, Lobatto S, van Furth R. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984;I:1087-1090. PMID 6144826. | ||
Revision as of 17:59, 7 June 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Synonyms and keywords: HIDS
Overview
Hyperimmunoglobulinemia D with recurrent fever (commonly abbreviated as HIDS) is a periodic fever syndrome originally described in 1984 by the internist Prof. Jos van der Meer, then at Leiden University Medical Centre. No more than 300 cases have been described worldwide.
Historical perspective
- Hyperimmunoglobulinemia D with recurrent fever was first discovered by Prof. Jos van der Meer, a Dutch internist, in 1984 during the workup of 6 patients with recurrent attacks of fever of unknown origin.[1]
- In 1999, MVK gene mutations were first implicated in the pathogenesis of hyperimmunoglobulinemia D with recurrent fever.[2]
Classification
Pathophysiology
Is it not known how mevalonate kinase mutations cause the febrile episodes, although it is presumed that other products of the cholesterol biosynthesis pathyway, the prenylation chains (geranylgeraniol and farnesol) might play a role.
Causes
- Hyperimmunoglobulinemia D with recurrent fever may be caused by mutation in MVK gene.[2]
- Mutation in this gene result in reduced activities of mevalonate kinase (MK), a key enzyme of isoprenoid biosynthesis.
Virtually all patients with the syndrome have mutations in the gene for mevalonate kinase, which is part of the HMG-CoA reductase pathway, an important cellular metabolic pathway (Drenth et al 1999, Houten et al 1999). Indeed, similar fever attacks (but normal IgD) have been described in patients with mevalonic aciduria - an inborn error of metabolism now seen as a severe form of HIDS.
Differentiating Hyperimmunoglobulinemia D with recurrent fever from other Diseases
The differential diagnosis includes fever of unknown origin, familial Mediterranean fever (FMF) and familial Hibernian fever (or TNFα reception associated periodic syndrome/TRAPS).
Epidemiology and Demographics
- No more than 300 cases have been described worldwide.
- Hyperimmunoglobulinemia D with recurrent fever commonly affects individuals younger than 1 year of age. All the cases will develop this disorder before 5 years of age.[3]
- The majority of hyperimmunoglobulinemia D with recurrent fever cases are reported in western European countries.[4]
- Approximaatley, 60% of the reported cases are Dutch or French.[5]
- This disorder affects men and women equally.
- White ethnicity is affected at a greater extent.
Risk Factors
Diagnosis
History and Symptoms
HIDS is one of a number of periodic fever syndromes. It is characterized by attacks of fever, arthralgia, skin lesions, and diarrhea.
Physical Examination
Laboratory Findings
Laboratory features include an acute phase response (elevated CRP and ESR) and markedly elevated IgD (and often IgA), although cases with normal IgD have been described.
Electrocardiogram
There are no ECG findings associated with hyperimmunoglobulinemia D with recurrent fever.
X-ray
There are no x-ray findings associated with hyperimmunoglobulinemia D with recurrent fever.
Echocardiography or Ultrasound
There are no echocardiography/ultrasound findings associated with hyperimmunoglobulinemia D with recurrent fever.
CT scan
There are no CT scan findings associated with hyperimmunoglobulinemia D with recurrent fever.
MRI
There are no MRI findings associated with hyperimmunoglobulinemia D with recurrent fever.
Other Imaging Findings
There are no other imaging findings associated with hyperimmunoglobulinemia D with recurrent fever.
Other Diagnostic Studies
There are no other diagnostic studies associated with hyperimmunoglobulinemia D with recurrent fever.
Treatment
Medical Therapy
There is no treatment for hyperimmunoglobulinemia D with recurrent fever; the mainstay of therapy is supportive care. The recurring fevers are highly unpleasant for patients, but so far only the immunosuppressant drugs etanercept (Enbrel) and anakinra have been shown to be effective. Statin drugs might decrease the level of mevalonate and are presently being investigated.
Surgery
Surgical intervention is not recommended for the management of hyperimmunoglobulinemia D with recurrent fever.
Primary Prevention
There are no established measures for the primary prevention of hyperimmunoglobulinemia D with recurrent fever.
Secondary Prevention
There are no established measures for the secondary prevention of hyperimmunoglobulinemia D with recurrent fever.
References
References
- ↑ Van Der Meer, JosW.M.; Radl, Jiri; Meyer, ChrisJ.L.M.; Vossen, JaakM.; Van Nieuwkoop, JannyA.; Lobatto, Sacha; Van Furth, Ralph (1984). "HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME". The Lancet. 323 (8386): 1087–1090. doi:10.1016/S0140-6736(84)92505-4. ISSN 0140-6736.
- ↑ 2.0 2.1 Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT (June 1999). "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet. 22 (2): 175–7. doi:10.1038/9691. PMID 10369261.
- ↑ Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W (May 2001). "Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D". Rheumatology (Oxford). 40 (5): 579–84. doi:10.1093/rheumatology/40.5.579. PMID 11371670.
- ↑ Simon A, Mariman EC, van der Meer JW, Drenth JP (February 2003). "A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome". Am. J. Med. 114 (2): 148–52. PMID 12586237.
- ↑ Drenth, Joost P.H.; van der Meer, Jos W.M. (2001). "Hereditary Periodic Fever". New England Journal of Medicine. 345 (24): 1748–1757. doi:10.1056/NEJMra010200. ISSN 0028-4793.
- Online Mendelian Inheritance in Man (OMIM) 260920
- van der Meer JWM, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJLM, Lobatto S, van Furth R. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984;I:1087-1090. PMID 6144826.
- Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999;22:178-81. PMID 10369262.
- Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MMJ, Huijbers WAR, Rijkers GT, Waterham HR, Wanders RJA, Poll-The BT. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genet 1999;22:175-177. PMID 10369261.
- Rigante D, Ansuini V, Bertoni B, Pugliese AL, Avallone L, Federico G, Stabile A. Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatol Int. 2006 Jul 27. PMID 16871408