What is the prevalence of Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS)?

Hyper-IgD Syndrome (HIDS), also known as Mevalonate Kinase Deficiency (MKD), is an ultra-rare autoinflammatory disorder with an estimated prevalence of less than 1 in 1,000,000 in the general population. While precise global figures are difficult to determine, current clinical literature suggests that fewer than 300 cases have been documented worldwide, though underdiagnosis remains a significant barrier to accurate epidemiological counting.

How common is Hyper-IgD Syndrome?

Hyper-IgD Syndrome is classified as an ultra-rare disease. Because the symptoms—recurrent fevers, rash, and abdominal pain—can mimic more common infectious or inflammatory conditions, Hyper-IgD Syndrome is frequently underdiagnosed. Data from Orphanet indicates that the disorder is exceptionally rare, and the true incidence is likely higher than reported clinical cases due to the clinical spectrum of Mevalonate Kinase Deficiency.

Who is affected by Hyper-IgD Syndrome?

Hyper-IgD Syndrome does not show a gender preference; it affects males and females with equal frequency. Regarding onset, the disease is primarily pediatric, with most patients experiencing their first fever episodes within the first year of life, often shortly after routine childhood vaccinations. At DiseaseMaps.org, 6 members have joined our community to share their personal experiences with Hyper-IgD Syndrome, providing a vital real-world look at how this rare condition impacts daily life across different ages.

Are there geographic or ethnic patterns in Hyper-IgD Syndrome?

While Hyper-IgD Syndrome has been reported globally, there is a noted concentration of cases within populations of Western European descent, particularly those with Dutch ancestry. However, as genetic testing becomes more accessible, cases are being identified in diverse ethnic groups worldwide. The following factors contribute to the difficulty in establishing exact prevalence:

• Diagnostic Delay: Many patients undergo years of testing before receiving a genetic confirmation of Hyper-IgD Syndrome.


• Phenotypic Variability: The severity of Hyper-IgD Syndrome varies widely, leading to cases that may go unrecognized by clinicians unfamiliar with autoinflammatory disorders.


• Genetic Testing: Increased availability of MVK gene sequencing is slowly improving the accuracy of our global prevalence data.

Next steps

• Consult with a specialized rheumatologist or immunologist experienced in autoinflammatory diseases.


• Request genetic testing for the MVK gene if symptoms are consistent with Hyper-IgD Syndrome.


• Connect with the DiseaseMaps.org community to share experiences and learn from others living with this rare condition.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified healthcare provider.

References

• Orphanet: Mevalonate Kinase Deficiency (ORPHA400).


• NIH Genetic and Rare Diseases Information Center (GARD): Hyperimmunoglobulinemia D with recurrent fever.


• OMIM (Online Mendelian Inheritance in Man): Mevalonate Kinase Deficiency; MKD (#251170).


• The Autoinflammatory Alliance: Patient resources and educational materials.