HIDS, MKD, Hyper Immunoglobulin D Syndrome Please rate this page (bottom of page)

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Mevalon kinase deficiency / HIDS with typical face shape. Haas D, Orphanet J Rare Dis (2006). CC BY 2.0

Hyper-IgD syndrome (HIDS). ICD-10: E88.8

Belongs to the disease group «Mevalonate kinase deficiency» and is due congenital mutations in the mevalonate kinase (MVK) gene. HIDS is counted on them periodic fever syndromes / autoinflammatory diseases.


  • Most often before one year of age (0,2-0,9 years)
  • Fever in 3-7 days at a time
  • Ethnic probably most common among Dutch and French
  • Autosomal recessive heritage
  • Increased acute phase reactants in blood samples
  • Increased IgA and IgD in blood


Quickly onset fever of more than 38,5 degrees C

  • Lymphadenopathy (90%) at the neck at fever episodes
  • Abdominal pain as by Acute abdomen
  • Splenomegaly (large spleen at 50%)
  • Polyartralgi (joint pain) (80%) during fever episodes
  • Eczema: macular with transition to papules, urticaria, EN or petechia
  • Diarrhea


Family history. Symptoms, high Ig-D in the blood

  • Genetic testing: mutations in the mevalonate kinase (MVK) gene (many variants)
  • Urine test on excretion of LTE4 (experimental)
  • Blood tests: IgD and IgA elevated. Lowering reaction (SR), CRP, leukocytosis, ferritin

Criteria for diagnosis

These are classification criteria used in research and not necessarily to make the diagnosis in clinical practice.

Classification criteria Eurofever / PRINO 2019 (Gattorno M, 2019)

Gene test shows MVK genotype and at least one of the following:

  • Gastrointestinal symptoms (Gastrointestinal)
  • Swollen lymph nodes on the neck / neck
  • After in the mouth (Aphthous stomatitis)

Suggested criteria for diagnosis and classification (Mevalonate kinase deficit) (Federci, S, PRINTO / Eurofever 2015)

Occurrence Points

  • Debut age during 2 years: 10
  • Aftous stomatitis: 11
  • Generalized lymph node or splenomegaly: 8
  • Painful lymph nodes: 13
  • Diarea (sometimes): 20
  • Diary persistent: 37
  • Absence of chest pain: 11

TOTAL score / score at least: 42

Sensitivity: 53%, Specificity: 89%

Incorrect diagnosis (similar conditions, differential diagnosis)

Abdominal pain


Other periodic fever syndromes

IgD increased in blood

IgD also elevated by: Hodgkin's lymphoma, Sarcoidosis, Tuberculosis, Aspergillosis, Ataxia-telangiectasia, HIV / AIDS


anakinra or canakinumab (Biological treatment) often has an effect. NSAIDs or steroids Prednisolone 1mg / kg / day may be used for fever episodes. The drugs Kolkisin, statins, Thalidomide and etanercept do not have a safe effect.


Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)

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