SEARCH
Select Language

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

References

1. Frenkel J, Simon A. Hyperimmunoglobulinemia D with periodic fever. Orphanet.
www.orpha.net (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 www.ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns. Accessed on January 22, 2017.

Kids' corner

Want to help your child understand their illness? Why not visit Kids' Corner with your child and read Paula and Tim’s explanation of autoinflammatory disease and their experience of attending school and after school activities with their condition.

Learn more
Kids' Corner

NPR/ACZ885/0008E