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HIDS/MKD: Hyperimmunoglobulinemia D syndrome/mevalonate kinase deficiency

What is HIDS/MKD?

HIDS/MKD (hyperimmunoglobulinemia D syndrome/mevalonate kinase deficiency) is a very rare autoinflammatory condition that usually starts in early childhood.

In HIDS/MKD, an antibody called immunoglobulin D is present in the blood in higher levels than in healthy people. However, exactly how immunoglobulin D influences the immune response is unknown.

How common is HIDS/MKD?

HIDS/MKD is extremely rare, but among the known cases, Europeans are most commonly affected. It is estimated that it affects 200 patients worldwide.

What are the symptoms?

HIDS/MKD flares tend to occur once or twice a month and last for 4-7 days.  The condition usually becomes apparent in the first year of life and consists of recurrent attacks of fever along with other symptoms.

HIDS/MKD flares can involve the following symptoms:

  • Fever
  • Headache
  • Rash
  • Abdominal pain, vomiting, diarrhea
  • Enlarged spleen
  • Pain and inflammation in the large joints

HIDS/MKD flares can occur spontaneously or can be triggered by:

  • Vaccinations
  • Minor injuries
  • Surgery
  • Stress

Image showing possible symptoms of HIDS/MKD

Possible symptoms of HIDS/MKD

What typically happens over the course of the illness?

Growth and development of children who have HIDS/MKD are usually not affected. The frequency of HIDS/MKD flares generally decreases with age.

A long-term complication, amyloidosis, rarely develops in people with HIDS/MKD. Amyloidosis is a build-up of proteins in the kidneys, leading to kidney damage. Improved diagnostics and treatment have reduced the frequency of amyloidosis as a complication of HIDS/MKD.

What causes HIDS/MKD?

It is not clear what triggers the activation of the innate immune system in HIDS/MKD. However, it is known that those with HIDS/MKD have a change in their mevalonate kinase (MVK) gene. This change alters how cholesterol is used in the body.

The change in the MVK gene is inherited recessively.  This means that a person must receive the gene from both their mother and father in order to inherit HIDS/MKD.

Hereditary transmission of HIDS/MKD graph

Hereditary transmission of HIDS/MKD


1. Frenkel J, Simon A. Hyperimmunoglobulinemia D with periodic fever. Orphanet. (accessed January 17, 2017).
2. Lachmann HJ, Hawkins PN. Arthritis Res Ther. 2009;11:212.
3. Gattorno M, Federici S, Pelagatti MA et al. J Clin Immunol. 2008;28(suppl 1): S73–83.
4. National Library of Medicine (NIH). Autosomal recessive inheritance. Available at Accessed on January 22, 2017.

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