Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hyper-IgD Syndrome (HIDS), also known as mevalonate kinase deficiency (MKD), is a hereditary genetic condition caused by mutations in the MVK gene. Because it follows an autosomal recessive inheritance pattern, an individual must inherit two copies of the mutated gene—one from each parent—to develop the disease. Is Hyper-IgD Syndrome hereditary? Yes, Hyper-IgD Syndrome is strictly a hereditary condition.
Is Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS) hereditary?
Is Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS) hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.
Hyper-IgD Syndrome (HIDS), also known as mevalonate kinase deficiency (MKD), is a hereditary genetic condition caused by mutations in the MVK gene. Because it follows an autosomal recessive inheritance pattern, an individual must inherit two copies of the mutated gene—one from each parent—to develop the disease.
Is Hyper-IgD Syndrome hereditary?
Yes, Hyper-IgD Syndrome is strictly a hereditary condition. It is caused by pathogenic variants in the MVK gene, which encodes the enzyme mevalonate kinase. Being "hereditary" means the condition is passed from parents to children through DNA. It is not contagious, nor is it caused by environmental factors or lifestyle choices.
What is the inheritance pattern of HIDS?
Hyper-IgD Syndrome follows an autosomal recessive inheritance pattern. This means that both parents of an affected child are typically asymptomatic carriers, each carrying one mutated copy of the MVK gene. When both parents are carriers, the following risks apply for each pregnancy:
- 25% chance of the child inheriting two mutated copies and developing Hyper-IgD Syndrome.
- 50% chance of the child being an asymptomatic carrier like the parents.
- 25% chance of the child inheriting two normal copies of the gene.
Are de novo mutations common in Hyper-IgD Syndrome?
De novo (spontaneous) mutations are rare in Hyper-IgD Syndrome. The vast majority of cases arise from the inheritance of pathogenic variants from both parents. While genetic testing can identify these mutations, it is important to note that the clinical severity of Hyper-IgD Syndrome does not always correlate perfectly with the specific genotype.
When should genetic testing and counseling be considered?
Genetic testing is the gold standard for confirming a diagnosis of Hyper-IgD Syndrome. It is recommended for individuals presenting with recurrent fevers and elevated IgD levels. Genetic counseling is vital for families, as it helps explain the 25% recurrence risk, discusses carrier testing for siblings or extended family members, and reviews reproductive options such as prenatal diagnosis or preimplantation genetic testing (PGT).
Next steps
- Consult with a clinical geneticist to confirm the diagnosis via MVK gene sequencing.
- Speak with a genetic counselor to map out family inheritance risks and discuss family planning.
- Connect with the 6 members of the Hyper-IgD Syndrome community on DiseaseMaps.org to share experiences and support.
- Monitor symptoms with a rheumatologist specializing in autoinflammatory diseases.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare provider for diagnosis and treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Hyper-IgD Syndrome.
- Orphanet: Mevalonate kinase deficiency (ORPHA:408).
- OMIM (Online Mendelian Inheritance in Man): Mevalonate Kinase Deficiency; MKD (#251170).
- Autoinflammatory Alliance: Resources for HIDS/MKD patients and families.
