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.

Debut

• 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

Symptoms

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

Diagnosis

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)
  • More Follow the process here: https://www.campadventure.dk/en/camp-adventure-glamping/ (Genetikkportalen.no)
• 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

• Appendicitis (appendicitis)
• Pancreatitis
• Perforated stomach / intestine

Fever

Other periodic fever syndromes

• FMF, TRAPS, PFAPA, Muckle-Wells syndrome, Familial cold autoinflammatory syndrome (FACS) (formerly = familial cold urticaria).
• Mevalonic aciduria

IgD increased in blood

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

Treatment

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.

Literature

• Mulders-Manders CM, 2015
• More here (Orphanet)

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)

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