Hyperimmunoglobulinemia D with recurrent fever

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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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