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.
HIDS/MKD is extremely rare, but among the known cases, Europeans are most commonly affected. It is estimated that it affects 200 patients worldwide.
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:
HIDS/MKD flares can occur spontaneously or can be triggered by:
Possible symptoms of HIDS/MKD
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.
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
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4. National Library of Medicine (NIH). Autosomal recessive inheritance. Available at www.ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns. Accessed on January 22, 2017.