HIDS (Hyper-IgD Syndrome) / Mevalonate Kinase Deficiency

Autosomal recessive autoinflammatory disease caused by MVK gene mutations.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is HIDS (Hyper-IgD Syndrome) / Mevalonate Kinase Deficiency?

HIDS or mevalonate kinase deficiency is an autosomal recessive autoinflammatory syndrome caused by hypomorphic mutations in the MVK gene.

Reduced mevalonate kinase activity disrupts isoprenoid biosynthesis and leads to NLRP3 inflammasome activation and IL-1 beta release.

Attacks typically begin in infancy after vaccination or stress and last three to seven days; severe form (mevalonic aciduria) presents with developmental delay.

Symptoms

Recurrent febrile attacks every four to six weeks

Painful cervical lymphadenopathy

Abdominal pain, vomiting and diarrhoea

Aphthous stomatitis and pharyngitis

Erythematous macular and papular rash

Arthralgia and oligoarthritis (large joints)

Risk Factors

Biallelic MVK gene mutations (V377I most common)

Northern European (Dutch) ancestry

Vaccination, stress and infection trigger attacks

Consanguinity (autosomal recessive inheritance)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Recurrent fevers lasting three to seven days starting in infancy
Painful cervical lymphadenopathy with abdominal symptoms
Developmental delay or dysmorphic features (severe form)
Family history of autoinflammatory disease or unexplained early childhood deaths

Treatment Methods

Genetic confirmation by MVK sequencing and elevated urinary mevalonic acid

Elevated serum IgD greater than 100 IU/mL supports the diagnosis (not pathognomonic)

NSAIDs and corticosteroids for mild acute attacks

Anakinra (daily IL-1 receptor antagonist) — first-line biologic

Canakinumab (long-acting anti-IL-1 beta) — approved for chronic control

Allogeneic stem cell transplant for severe mevalonic aciduria phenotype

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.