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

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 Prednisolol 1mg / kg / day may be used in fever episodes. Medicines Colchicine, statins, thalidomide and etanercept do not have a safe effect.


Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)

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