Hyper IgD syndrome (HIDS) is a rare autoinflammatory disease and can also be known as mevalonate kinase deficiency (MKD). It is caused by a mutation in the mevalonate kinase gene causing a deficiency in the enzyme and resulting in an inflammatory response.
The symptoms of HIDS can begin in early childhood and are episodic meaning that the symptoms are not constant, but may occur from time-to -time and there may be little to no symptoms in between episodes. Genetic counseling may be suggested for affected individuals and their families. The name "Hyper IgD syndrome" comes from historical observations, even though elevated immunoglobulin D levels are not always seen in everyone with this condition.
Symptoms of AiArthritis Diseases Regardless of Diagnosis
“Auto” Symptoms
Reference: Early Symptoms of AiArthritis Study, AiArthritis, 2019.
Typically the joint pain will coincide with one or more “Auto” symptoms and start and stop suddenly - for no apparent reason (which is called a "flare"). Some people will experience all of the above symptoms, others only a few. If you have any of the arthritis features, and at least one of the “Auto” features, please consult your physician about a referral to a rheumatologist.
Symptoms Often Associated with HIDS:
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There’s no single definitive test that can confirm a HIDS diagnosis, so rheumatologists look at a combination of physical exams along with a family history of autoimmune or autoinflammatory disease, to determine symptoms. For HIDS, genetic testing is a key component of HIDS diagnosis. A blood sample is taken to analyze the patient's DNA and specifically look for mutations in the mevalonate kinase gene (MVK). The presence of mutations in MVK supports the diagnosis of HIDS. Taking blood tests during fever episodes to evaluate inflammation markers like CRP and ESR can also assist with diagnosis.
In an effort to ensure this page has the most accurate and up-to-date information, this page is currently awaiting medical review. Some information is subject to change.
Page Last Updated: 9/1/2023
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