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{{SI}}
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{{CMG}}; {{AE}} {{Sahar}}


{{SK}}: [[Mevalonate kinase deficiency]] ([[Mevalonate kinase deficiency|MKD]]), HIDS
==Overview==
==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]] [[Leiden University Medical Centre|Medical Centre]]. No more than 300 cases have been described worldwide.
'''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 Center. 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]].<ref name="Van Der MeerRadl1984">{{cite journal|last1=Van Der Meer|first1=JosW.M.|last2=Radl|first2=Jiri|last3=Meyer|first3=ChrisJ.L.M.|last4=Vossen|first4=JaakM.|last5=Van Nieuwkoop|first5=JannyA.|last6=Lobatto|first6=Sacha|last7=Van Furth|first7=Ralph|title=HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME|journal=The Lancet|volume=323|issue=8386|year=1984|pages=1087–1090|issn=01406736|doi=10.1016/S0140-6736(84)92505-4}}</ref>
*In 1999, [[Mevalonate kinase|MVK]] [[gene]] [[mutations]] were first implicated in the [[pathogenesis]] of hyperimmunoglobulinemia D with recurrent [[fever]].<ref name="pmid10369261">{{cite journal |vauthors=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 |title=Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome |journal=Nat. Genet. |volume=22 |issue=2 |pages=175–7 |date=June 1999 |pmid=10369261 |doi=10.1038/9691 |url=}}</ref><ref name="pmid10369262">{{cite journal |vauthors=Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M |title=Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group |journal=Nat. Genet. |volume=22 |issue=2 |pages=178–81 |date=June 1999 |pmid=10369262 |doi=10.1038/9696 |url=}}</ref>
==Classification==
*There is no established system for the [[classification]] of hyperimmunoglobulinemia D with recurrent [[fever]].
==Pathophysiology==
*Hyperimmunoglobulinemia D with recurrent [[fever]] is a [[autosomal recessive]] [[disorder]] that occurs due to [[mutation]] in [[Mevalonate kinase|MVK]] [[gene]], encoding for [[mevalonate kinase]] [[enzyme]].<ref name="pmid10369261">{{cite journal |vauthors=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 |title=Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome |journal=Nat. Genet. |volume=22 |issue=2 |pages=175–7 |date=June 1999 |pmid=10369261 |doi=10.1038/9691 |url=}}</ref><ref name="pmid10369262">{{cite journal |vauthors=Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M |title=Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group |journal=Nat. Genet. |volume=22 |issue=2 |pages=178–81 |date=June 1999 |pmid=10369262 |doi=10.1038/9696 |url=}}</ref>


==Features==
{{familytree/start |summary=Sample 1}}
HIDS is one of a number of [[periodic fever syndrome]]s. It is characterised by attacks of [[fever]], [[arthralgia]], [[skin disease|skin lesions]], and [[diarrhea]]. Laboratory features include an [[acute phase response]] (elevated [[C-reactive protein|CRP]] and [[Erythrocyte sedimentation rate|ESR]]) and markedly elevated [[IgD]] (and often [[IgA]]), although cases with normal IgD have been described.
{{familytree | | | | | E04 | | | | |E04=acetyl-CoA + acetoacetyl-CoA}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | E05 | | | | |E05=3-hydroxy-3-methylglutaryl-CoA}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | C05 | | | | |C05=Mevalonic acid}}
{{familytree | | | | | |!| | | | | | }}
{{familytree | | | | | C04 |-|-|-|-|C06 | | |C04=Absent [[enzyme]]|C06=[[Mevalonate kinase]] deficiency}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | D05 | | | | |D05=5-phosphomevalonate}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | |!| F01 | | |F01=Multiple enzymaic pathway}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | G05 | | | | |G05=[[Cholesterol]]}}
{|
! colspan="2" style="background:#DCDCDC;" align="center" + |The above algorithm is adopted from Orphanet Journal of Rare Diseases<ref name="HaasHoffmann2006">{{cite journal|last1=Haas|first1=Dorothea|last2=Hoffmann|first2=Georg F|title=Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome|journal=Orphanet Journal of Rare Diseases|volume=1|issue=1|year=2006|issn=1750-1172|doi=10.1186/1750-1172-1-13}}</ref>
|-
|}
*[[Mutation]] in this [[gene]] is associated with reduced activity of [[mevalonate kinase]] [[enzyme]] engaged in [[cholesterol]] and [[isoprene]] [[biosynthesis]].<ref name="van der Burghter Haar2013">{{cite journal|last1=van der Burgh|first1=Robert|last2=ter Haar|first2=Nienke M.|last3=Boes|first3=Marianne L.|last4=Frenkel|first4=Joost|title=Mevalonate kinase deficiency, a metabolic autoinflammatory disease|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=197–206|issn=15216616|doi=10.1016/j.clim.2012.09.011}}</ref>
*[[Isoprene|Isoprenes]] are used in a variety of cellular functions, and the [[pathogenic]] mechanism leading to recurrent [[inflammatory]] attacks remains poorly understood.<ref name="MandeyKuijk2006">{{cite journal|last1=Mandey|first1=Saskia H. L.|last2=Kuijk|first2=Loes M.|last3=Frenkel|first3=Joost|last4=Waterham|first4=Hans R.|title=A role for geranylgeranylation in interleukin-1β secretion|journal=Arthritis & Rheumatism|volume=54|issue=11|year=2006|pages=3690–3695|issn=00043591|doi=10.1002/art.22194}}</ref>
*Previously it was thought that elevated levels of [[mevalonate]] is the cause of presenting [[symptoms]]. However, attempts to reduce its level via [[statin]] usage led to the exacerbation of attacks.
*Currently, it is hypothesized that lack of other [[metabolites]] produced by the absent [[enzyme]] mediates [[inflammation]] and leads  to a [[caspase]]-mediated increase in [[IL-1|IL‑1β]] production.
==Causes==
*Hyperimmunoglobulinemia D with recurrent [[fever]] may be caused by [[mutation]] in [[Mevalonate kinase|MVK]] [[gene]].<ref name="pmid10369261">{{cite journal |vauthors=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 |title=Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome |journal=Nat. Genet. |volume=22 |issue=2 |pages=175–7 |date=June 1999 |pmid=10369261 |doi=10.1038/9691 |url=}}</ref><ref name="pmid10369262">{{cite journal |vauthors=Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M |title=Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group |journal=Nat. Genet. |volume=22 |issue=2 |pages=178–81 |date=June 1999 |pmid=10369262 |doi=10.1038/9696 |url=}}</ref>
*[[Mutation]] in this [[gene]] result in reduced activities of [[mevalonate kinase]] ([[Mevalonate kinase|MK]]), a key enzyme of [[isoprenoid]] [[biosynthesis]].
==Differentiating Hyperimmunoglobulinemia D with recurrent fever from other Diseases==
*Hyperimmunoglobulinemia D with recurrent fever must be differentiated from other [[diseases]] that cause [[fever]], [[abdominal pain]], and [[arthritis]], such as [[infections]], other [[Periodic fever syndrome|autoinflammatory diseases]], and [[autoimmune disorders]].
*For more information on the [[differential diagnosis]] of hyperimmunoglobulinemia D with recurrent fever please [[Familial mediterranean fever differential diagnosis|click here]].


It has mainly been described in [[The Netherlands]] and [[France]], although the international registry includes a number of cases from other countries.
==Epidemiology and Demographics==
*The exact [[prevalence]] of hyperimmunoglobulinemia D with recurrent [[fever]] is not known. However, no more than 300 cases have been described worldwide.<ref name="van der Burghter Haar2013">{{cite journal|last1=van der Burgh|first1=Robert|last2=ter Haar|first2=Nienke M.|last3=Boes|first3=Marianne L.|last4=Frenkel|first4=Joost|title=Mevalonate kinase deficiency, a metabolic autoinflammatory disease|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=197–206|issn=15216616|doi=10.1016/j.clim.2012.09.011}}</ref>
*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.<ref name="pmid11371670">{{cite journal |vauthors=Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W |title=Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D |journal=Rheumatology (Oxford) |volume=40 |issue=5 |pages=579–84 |date=May 2001 |pmid=11371670 |doi=10.1093/rheumatology/40.5.579 |url=}}</ref>
*The majority of hyperimmunoglobulinemia D with recurrent [[fever]] cases are reported in western European countries.<ref name="pmid12586237">{{cite journal |vauthors=Simon A, Mariman EC, van der Meer JW, Drenth JP |title=A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome |journal=Am. J. Med. |volume=114 |issue=2 |pages=148–52 |date=February 2003 |pmid=12586237 |doi= |url=}}</ref>
*Approximately, 60% of the reported cases are Dutch or French.<ref name="Drenthvan der Meer2001">{{cite journal|last1=Drenth|first1=Joost P.H.|last2=van der Meer|first2=Jos W.M.|title=Hereditary Periodic Fever|journal=New England Journal of Medicine|volume=345|issue=24|year=2001|pages=1748–1757|issn=0028-4793|doi=10.1056/NEJMra010200}}</ref>
*This [[disorder]] affects men and women equally.
*White [[Ethnicity and health|ethnicity]] is affected at a greater extent.


The [[differential diagnosis]] includes [[fever of unknown origin]], [[familial Mediterranean fever]] (FMF) and [[TNF receptor associated periodic syndrome|familial Hibernian fever]] (or TNFα reception associated periodic syndrome/TRAPS).
==Risk Factors==
There are no established risk factors for hyperimmunoglobulinemia D with recurrent fever. However, attacks may be provoked by factors such as:<ref name="van der HilstBodar2008">{{cite journal|last1=van der Hilst|first1=Jeroen C. H.|last2=Bodar|first2=Evelien J.|last3=Barron|first3=Karyl S.|last4=Frenkel|first4=Joost|last5=Drenth|first5=Joost P. H.|last6=van der Meer|first6=Jos W. M.|last7=Simon|first7=Anna|title=Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome|journal=Medicine|volume=87|issue=6|year=2008|pages=301–310|issn=0025-7974|doi=10.1097/MD.0b013e318190cfb7}}</ref>
*Emotional stress
*[[Trauma]]
*[[Infection]]
*[[Vaccination|Vaccinations]]
==Natural History, Complications, and Prognosis==
*HIDS manifests usually in the first year of life with episodes of [[fever]] lasting 4 to 7 days accompanied with [[headache]], [[abdominal pain]], prominent cervical [[lymphadenopathy]], [[polyarthralgia]] or polyarticular [[arthritis]], diffuse [[maculopapular rash]], and [[Aphthous ulcer|aphthous ulcerations]].<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref>
*Prognosis differs according to the degree of [[enzyme]] deficiency.<ref name="D'OsualdoPicco2004">{{cite journal|last1=D'Osualdo|first1=Andrea|last2=Picco|first2=Paolo|last3=Caroli|first3=Francesco|last4=Gattorno|first4=Marco|last5=Giacchino|first5=Raffaella|last6=Fortini|first6=Patrizia|last7=Corona|first7=Fabrizia|last8=Tommasini|first8=Alberto|last9=Salvi|first9=Giuseppe|last10=Specchia|first10=Fernando|last11=Obici|first11=Laura|last12=Meini|first12=Antonella|last13=Ricci|first13=Antonio|last14=Seri|first14=Marco|last15=Ravazzolo|first15=Roberto|last16=Martini|first16=Alberto|last17=Ceccherini|first17=Isabella|title=MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever|journal=European Journal of Human Genetics|volume=13|issue=3|year=2004|pages=314–320|issn=1018-4813|doi=10.1038/sj.ejhg.5201323}}</ref>
*The majority of [[patients]] develop fewer attacks as they age and some may even attain spontaneous [[remission]]. However, the complete absence of [[enzymatic]] activity is associated with death in early infancy in 40% of the cases.
*Approximately, 3% of patients may develop [[amyloidosis]] as they age.
*[[Infections]] is another [[complication]] of this [[disorder]] which may be the cause of [[morbidity]] and [[mortality]].
==Diagnosis==
===Diagnostic Study of Choice===
*The [[diagnosis]] of hyperimmunoglobulinemia D with recurrent fever is based on clinical features. In 2014, the international registry of [[Periodic fever syndrome|autoinflammatory diseases]] (Eurofever) developed validated, evidence-based [[criteria]] for the [[diagnosis]] of this [[disorder]]. The following table is the suggested [[criteria]]:<ref name="FedericiSormani2015">{{cite journal|last1=Federici|first1=Silvia|last2=Sormani|first2=Maria Pia|last3=Ozen|first3=Seza|last4=Lachmann|first4=Helen J|last5=Amaryan|first5=Gayane|last6=Woo|first6=Patricia|last7=Koné-Paut|first7=Isabelle|last8=Dewarrat|first8=Natacha|last9=Cantarini|first9=Luca|last10=Insalaco|first10=Antonella|last11=Uziel|first11=Yosef|last12=Rigante|first12=Donato|last13=Quartier|first13=Pierre|last14=Demirkaya|first14=Erkan|last15=Herlin|first15=Troels|last16=Meini|first16=Antonella|last17=Fabio|first17=Giovanna|last18=Kallinich|first18=Tilmann|last19=Martino|first19=Silvana|last20=Butbul|first20=Aviel Yonatan|last21=Olivieri|first21=Alma|last22=Kuemmerle-Deschner|first22=Jasmin|last23=Neven|first23=Benedicte|last24=Simon|first24=Anna|last25=Ozdogan|first25=Huri|last26=Touitou|first26=Isabelle|last27=Frenkel|first27=Joost|last28=Hofer|first28=Michael|last29=Martini|first29=Alberto|last30=Ruperto|first30=Nicolino|last31=Gattorno|first31=Marco|title=Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers|journal=Annals of the Rheumatic Diseases|volume=74|issue=5|year=2015|pages=799–805|issn=0003-4967|doi=10.1136/annrheumdis-2014-206580}}</ref>
{| class="wikitable"
|+
|-
| style="background: #4479BA; width: 150px;" align="center"| {{fontcolor|#FFF|'''Presence'''}}
| style="background: #4479BA; width: 150px;" align="center"| {{fontcolor|#FFF|'''Score'''}}
|-
|
* Age at onset <2 years
|10
|-
|
* Aphthous stomatitis
|11
|-
|
* Generalised enlargement of lymph nodes or splenomegaly
|8
|-
|
* Painful lymph nodes
|13
|-
|
* Diarrhoea (sometimes/often)
|20
|-
|
* Diarrhoea (always)
|37
|-
|+
| style="background: #4479BA; width: 150px;" align="center"| {{fontcolor|#FFF|'''Absence'''}}
| style="background: #4479BA; width: 150px;" align="center"| {{fontcolor|#FFF|'''Score'''}}
|-
|
* Chest pain
|11
|-
|}
*The cut-off value for the diagnosis of hyperimmunoglobulinemia D with recurrent fever is score equal or higher than 42 scores.
*The overall [[sensitivity]] and [[specificity]] of this set of [[criteria]] for the [[diagnosis]] of hyperimmunoglobulinemia D with recurrent fever is 53% and 89%, respectively.
*The [[Gold standard (test)|gold standard]] [[diagnostic]] study for this [[disorder]] is the genetic analysis of [[Mevalonate kinase|MVK]] [[gene]].<ref name="MilhavetCuisset2008">{{cite journal|last1=Milhavet|first1=Florian|last2=Cuisset|first2=Laurence|last3=Hoffman|first3=Hal M.|last4=Slim|first4=Rima|last5=El-Shanti|first5=Hatem|last6=Aksentijevich|first6=Ivona|last7=Lesage|first7=Suzanne|last8=Waterham|first8=Hans|last9=Wise|first9=Carol|last10=Sarrauste de Menthiere|first10=Cyril|last11=Touitou|first11=Isabelle|title=The infevers autoinflammatory mutation online registry: update with new genes and functions|journal=Human Mutation|volume=29|issue=6|year=2008|pages=803–808|issn=10597794|doi=10.1002/humu.20720}}</ref>
===History and Symptoms===
*The hallmark of hyperimmunoglobulinemia D with recurrent fever is a high [[fever]]. A positive history of [[diarrhea]], [[Lymphadenopathy|lymph node enlargement]], and [[arthralgia]] is suggestive of hyperimmunoglobulinemia D with recurrent fever.<ref name="Bader-MeunierFlorkin2011">{{cite journal|last1=Bader-Meunier|first1=B.|last2=Florkin|first2=B.|last3=Sibilia|first3=J.|last4=Acquaviva|first4=C.|last5=Hachulla|first5=E.|last6=Grateau|first6=G.|last7=Richer|first7=O.|last8=Farber|first8=C. M.|last9=Fischbach|first9=M.|last10=Hentgen|first10=V.|last11=Jego|first11=P.|last12=Laroche|first12=C.|last13=Neven|first13=B.|last14=Lequerre|first14=T.|last15=Mathian|first15=A.|last16=Pellier|first16=I.|last17=Touitou|first17=I.|last18=Rabier|first18=D.|last19=Prieur|first19=A.-M.|last20=Cuisset|first20=L.|last21=Quartier|first21=P.|title=Mevalonate Kinase Deficiency: A Survey of 50 Patients|journal=PEDIATRICS|volume=128|issue=1|year=2011|pages=e152–e159|issn=0031-4005|doi=10.1542/peds.2010-3639}}</ref>
*Episodes of [[fever]] may take 3 to 7 days and is accompanied by shaking [[chills]].
*The episodes may recur at irregular intervals of 2 to 8 weeks.
===Physical Examination===
*Patients with hyperimmunoglobulinemia D with recurrent [[fever]] usually appear normal. [[Physical examination]] of [[patients]] with hyperimmunoglobulinemia D with recurrent fever is usually remarkable for high [[fever]] (regularly exceeds 40 °C), .<ref name="Bader-MeunierFlorkin2011">{{cite journal|last1=Bader-Meunier|first1=B.|last2=Florkin|first2=B.|last3=Sibilia|first3=J.|last4=Acquaviva|first4=C.|last5=Hachulla|first5=E.|last6=Grateau|first6=G.|last7=Richer|first7=O.|last8=Farber|first8=C. M.|last9=Fischbach|first9=M.|last10=Hentgen|first10=V.|last11=Jego|first11=P.|last12=Laroche|first12=C.|last13=Neven|first13=B.|last14=Lequerre|first14=T.|last15=Mathian|first15=A.|last16=Pellier|first16=I.|last17=Touitou|first17=I.|last18=Rabier|first18=D.|last19=Prieur|first19=A.-M.|last20=Cuisset|first20=L.|last21=Quartier|first21=P.|title=Mevalonate Kinase Deficiency: A Survey of 50 Patients|journal=PEDIATRICS|volume=128|issue=1|year=2011|pages=e152–e159|issn=0031-4005|doi=10.1542/peds.2010-3639}}</ref>
*Other possible findings are [[maculopapular rash]], [[urticaria]], and [[arthritis]].
===Laboratory Findings===
*Laboratory features include:<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref>
**[[acute phase response]] (elevated [[C-reactive protein|CRP]] and [[Erythrocyte sedimentation rate|ESR]]).
**Markedly elevated [[IgD]] (and often [[IgA]]), although cases with normal [[IgD]] have been described.<ref name="Saulsbury2003">{{cite journal|last1=Saulsbury|first1=Frank T|title=Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration|journal=The Journal of Pediatrics|volume=143|issue=1|year=2003|pages=127–129|issn=00223476|doi=10.1016/S0022-3476(03)00212-9}}</ref>
*Systemic [[amyloidosis]] is a rare finding in HIDS, however it has been reported.<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref>
**A possible characteristic finding for the [[diagnosis]] of HIDS is elevated urinary levels of mevalonic acid during episodes.<ref name="FedericiVanoni2019">{{cite journal|last1=Federici|first1=Silvia|last2=Vanoni|first2=Federica|last3=Ben-Chetrit|first3=Eldad|last4=Cantarini|first4=Luca|last5=Frenkel|first5=Joost|last6=Goldbach-Mansky|first6=Raphaela|last7=Gul|first7=Ahmet|last8=Hoffman|first8=Hal|last9=Koné-Paut|first9=Isabelle|last10=Kuemmerle-Deschner|first10=Jasmin|last11=Lachmann|first11=Helen J.|last12=Martini|first12=Alberto|last13=Obici|first13=Laura|last14=Ozen|first14=Seza|last15=Simon|first15=Anna|last16=Hofer|first16=Michael|last17=Ruperto|first17=Nicolino|last18=Gattorno|first18=Marco|title=An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor–associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome|journal=The Journal of Rheumatology|volume=46|issue=4|year=2019|pages=429–436|issn=0315-162X|doi=10.3899/jrheum.180056}}</ref>
===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.


==Cause==
==Treatment==
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.
===Medical Therapy===
 
*There is no treatment for hyperimmunoglobulinemia D with recurrent fever; the mainstay of therapy is supportive care.
==Pathophysiology==
*[[Dietary]] supplementation of [[cholesterol]] may change the frequency of attacks in those with mild [[disorder]].<ref>{{Cite journal
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.
| author = [[G. F. Hoffmann]], [[C. Charpentier]], [[E. Mayatepek]], [[J. Mancini]], [[M. Leichsenring]], [[K. M. Gibson]], [[P. Divry]], [[M. Hrebicek]], [[W. Lehnert]] & [[K. Sartor]]
 
| title = Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
==Therapy==
| journal = [[Pediatrics]]
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.
| volume = 91
| issue = 5
| pages = 915–921
| year = 1993
| month = May
| pmid = 8386351
}}</ref>
*Although [[statins]] may not be beneficial in the classic [[mevalonic aciduria]] [[disorder]] and result in clinical decompensation, it may reduce the febrile episodes in HIDs.<ref name="Simon2004">{{cite journal|last1=Simon|first1=A|title=Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome|journal=Clinical Pharmacology & Therapeutics|volume=75|issue=5|year=2004|pages=476–483|issn=00099236|doi=10.1016/j.clpt.2004.01.012}}</ref>
*Interleukin-1 inhibitors (Anakinra) have also been observed to be beneficial.<ref>{{Cite journal
| author = [[E. J. Bodar]], [[J. C. H. van der Hilst]], [[J. P. H. Drenth]], [[J. W. M. van der Meer]] & [[A. Simon]]
| title = Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model
| journal = [[The Netherlands journal of medicine]]
| volume = 63
| issue = 7
| pages = 260–264
| year = 2005
| month = July-August
| pmid = 16093577
}}</ref>
===Surgery===
*[[Surgical]] [[Intervention (counseling)|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.
*[[Genetic]] studies may be recommended to the families with one affected child for the subsequent [[pregnancies]].


===Secondary Prevention===
*There are no established measures for the [[secondary prevention]] of hyperimmunoglobulinemia D with recurrent fever.
==References==
==References==
* {{OMIM|260920}}
{{reflist|2}}
* 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
* [http://www.hids.net HIDSNet homepage]
 
{{SIB}}
 
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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:: Mevalonate kinase deficiency (MKD), 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 Center. No more than 300 cases have been described worldwide.

Historical perspective

Classification

  • There is no established system for the classification of hyperimmunoglobulinemia D with recurrent fever.

Pathophysiology

 
 
 
 
acetyl-CoA + acetoacetyl-CoA
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
3-hydroxy-3-methylglutaryl-CoA
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mevalonic acid
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Absent enzyme
 
 
 
 
Mevalonate kinase deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
5-phosphomevalonate
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Multiple enzymaic pathway
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cholesterol
 
 
 
 
The above algorithm is adopted from Orphanet Journal of Rare Diseases[4]

Causes

Differentiating Hyperimmunoglobulinemia D with recurrent fever from other Diseases

Epidemiology and Demographics

  • The exact prevalence of hyperimmunoglobulinemia D with recurrent fever is not known. However, no more than 300 cases have been described worldwide.[5]
  • 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.[7]
  • The majority of hyperimmunoglobulinemia D with recurrent fever cases are reported in western European countries.[8]
  • Approximately, 60% of the reported cases are Dutch or French.[9]
  • This disorder affects men and women equally.
  • White ethnicity is affected at a greater extent.

Risk Factors

There are no established risk factors for hyperimmunoglobulinemia D with recurrent fever. However, attacks may be provoked by factors such as:[10]

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

Presence Score
  • Age at onset <2 years
 10
  • Aphthous stomatitis
 11
  • Generalised enlargement of lymph nodes or splenomegaly
 8
  • Painful lymph nodes
 13
  • Diarrhoea (sometimes/often)
 20
  • Diarrhoea (always)
 37
Absence Score
  • Chest pain
 11

History and Symptoms

  • The hallmark of hyperimmunoglobulinemia D with recurrent fever is a high fever. A positive history of diarrhea, lymph node enlargement, and arthralgia is suggestive of hyperimmunoglobulinemia D with recurrent fever.[15]
  • Episodes of fever may take 3 to 7 days and is accompanied by shaking chills.
  • The episodes may recur at irregular intervals of 2 to 8 weeks.

Physical Examination

Laboratory Findings

  • Laboratory features include:[11]
  • Systemic amyloidosis is a rare finding in HIDS, however it has been reported.[11]
    • A possible characteristic finding for the diagnosis of HIDS is elevated urinary levels of mevalonic acid during episodes.[17]

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

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.
  • Dietary supplementation of cholesterol may change the frequency of attacks in those with mild disorder.[18]
  • Although statins may not be beneficial in the classic mevalonic aciduria disorder and result in clinical decompensation, it may reduce the febrile episodes in HIDs.[19]
  • Interleukin-1 inhibitors (Anakinra) have also been observed to be beneficial.[20]

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.
  • Genetic studies may be recommended to the families with one affected child for the subsequent pregnancies.

Secondary Prevention

  • There are no established measures for the secondary prevention of hyperimmunoglobulinemia D with recurrent fever.

References

  1. ↑ 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. ↑ 2.0 2.1 2.2 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.
  3. ↑ 3.0 3.1 3.2 Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M (June 1999). "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". Nat. Genet. 22 (2): 178–81. doi:10.1038/9696. PMID 10369262.
  4. ↑ Haas, Dorothea; Hoffmann, Georg F (2006). "Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome". Orphanet Journal of Rare Diseases. 1 (1). doi:10.1186/1750-1172-1-13. ISSN 1750-1172.
  5. ↑ 5.0 5.1 van der Burgh, Robert; ter Haar, Nienke M.; Boes, Marianne L.; Frenkel, Joost (2013). "Mevalonate kinase deficiency, a metabolic autoinflammatory disease". Clinical Immunology. 147 (3): 197–206. doi:10.1016/j.clim.2012.09.011. ISSN 1521-6616.
  6. ↑ Mandey, Saskia H. L.; Kuijk, Loes M.; Frenkel, Joost; Waterham, Hans R. (2006). "A role for geranylgeranylation in interleukin-1β secretion". Arthritis & Rheumatism. 54 (11): 3690–3695. doi:10.1002/art.22194. ISSN 0004-3591.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ van der Hilst, Jeroen C. H.; Bodar, Evelien J.; Barron, Karyl S.; Frenkel, Joost; Drenth, Joost P. H.; van der Meer, Jos W. M.; Simon, Anna (2008). "Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome". Medicine. 87 (6): 301–310. doi:10.1097/MD.0b013e318190cfb7. ISSN 0025-7974.
  11. ↑ 11.0 11.1 11.2 Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
  12. ↑ D'Osualdo, Andrea; Picco, Paolo; Caroli, Francesco; Gattorno, Marco; Giacchino, Raffaella; Fortini, Patrizia; Corona, Fabrizia; Tommasini, Alberto; Salvi, Giuseppe; Specchia, Fernando; Obici, Laura; Meini, Antonella; Ricci, Antonio; Seri, Marco; Ravazzolo, Roberto; Martini, Alberto; Ceccherini, Isabella (2004). "MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever". European Journal of Human Genetics. 13 (3): 314–320. doi:10.1038/sj.ejhg.5201323. ISSN 1018-4813.
  13. ↑ Federici, Silvia; Sormani, Maria Pia; Ozen, Seza; Lachmann, Helen J; Amaryan, Gayane; Woo, Patricia; Koné-Paut, Isabelle; Dewarrat, Natacha; Cantarini, Luca; Insalaco, Antonella; Uziel, Yosef; Rigante, Donato; Quartier, Pierre; Demirkaya, Erkan; Herlin, Troels; Meini, Antonella; Fabio, Giovanna; Kallinich, Tilmann; Martino, Silvana; Butbul, Aviel Yonatan; Olivieri, Alma; Kuemmerle-Deschner, Jasmin; Neven, Benedicte; Simon, Anna; Ozdogan, Huri; Touitou, Isabelle; Frenkel, Joost; Hofer, Michael; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco (2015). "Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers". Annals of the Rheumatic Diseases. 74 (5): 799–805. doi:10.1136/annrheumdis-2014-206580. ISSN 0003-4967.
  14. ↑ Milhavet, Florian; Cuisset, Laurence; Hoffman, Hal M.; Slim, Rima; El-Shanti, Hatem; Aksentijevich, Ivona; Lesage, Suzanne; Waterham, Hans; Wise, Carol; Sarrauste de Menthiere, Cyril; Touitou, Isabelle (2008). "The infevers autoinflammatory mutation online registry: update with new genes and functions". Human Mutation. 29 (6): 803–808. doi:10.1002/humu.20720. ISSN 1059-7794.
  15. ↑ 15.0 15.1 Bader-Meunier, B.; Florkin, B.; Sibilia, J.; Acquaviva, C.; Hachulla, E.; Grateau, G.; Richer, O.; Farber, C. M.; Fischbach, M.; Hentgen, V.; Jego, P.; Laroche, C.; Neven, B.; Lequerre, T.; Mathian, A.; Pellier, I.; Touitou, I.; Rabier, D.; Prieur, A.-M.; Cuisset, L.; Quartier, P. (2011). "Mevalonate Kinase Deficiency: A Survey of 50 Patients". PEDIATRICS. 128 (1): e152–e159. doi:10.1542/peds.2010-3639. ISSN 0031-4005.
  16. ↑ Saulsbury, Frank T (2003). "Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration". The Journal of Pediatrics. 143 (1): 127–129. doi:10.1016/S0022-3476(03)00212-9. ISSN 0022-3476.
  17. ↑ Federici, Silvia; Vanoni, Federica; Ben-Chetrit, Eldad; Cantarini, Luca; Frenkel, Joost; Goldbach-Mansky, Raphaela; Gul, Ahmet; Hoffman, Hal; Koné-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J.; Martini, Alberto; Obici, Laura; Ozen, Seza; Simon, Anna; Hofer, Michael; Ruperto, Nicolino; Gattorno, Marco (2019). "An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor–associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome". The Journal of Rheumatology. 46 (4): 429–436. doi:10.3899/jrheum.180056. ISSN 0315-162X.
  18. ↑ G. F. Hoffmann, C. Charpentier, E. Mayatepek, J. Mancini, M. Leichsenring, K. M. Gibson, P. Divry, M. Hrebicek, W. Lehnert & K. Sartor (1993). "Clinical and biochemical phenotype in 11 patients with mevalonic aciduria". Pediatrics. 91 (5): 915–921. PMID 8386351. Unknown parameter |month= ignored (help)
  19. ↑ Simon, A (2004). "Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome". Clinical Pharmacology & Therapeutics. 75 (5): 476–483. doi:10.1016/j.clpt.2004.01.012. ISSN 0009-9236.
  20. ↑ E. J. Bodar, J. C. H. van der Hilst, J. P. H. Drenth, J. W. M. van der Meer & A. Simon (2005). "Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model". The Netherlands journal of medicine. 63 (7): 260–264. PMID 16093577. Unknown parameter |month= ignored (help)

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