Management of Hyper IgD Syndrome (Mevalonate Kinase Deficiency)
Diagnostic Confirmation
- Genetic testing for MVK gene mutations is used to confirm the diagnosis of Hyper IgD syndrome, which is caused by bi-allelic loss-of-function variants in the MVK gene resulting in decreased mevalonate kinase activity, as recommended by the American Academy of Allergy, Asthma, and Immunology 1
Multidisciplinary Care Requirements
- The American Academy of Allergy, Asthma, and Immunology recommends establishing long-term relationships with clinical immunologists experienced in primary immunodeficiency disorders for optimal outcomes, including consultation with a clinical immunologist for interpretation of screening tests and determining advanced testing 2
- Referral to a tertiary care center is desirable when multiple organ systems are affected, and a coordinate multidisciplinary approach integrating physical and occupational therapy as needed, according to the American Academy of Allergy, Asthma, and Immunology 2
- Monitoring for signs of infection despite therapy, as infections can still occur, and serial evaluation for disease flares, defined as CRP and/or SAA >30 mg/L with worsening clinical symptoms, is recommended by the American Academy of Allergy, Asthma, and Immunology 2
- Assessment of autoimmune disease or malignancy symptoms depending on the particular immunodeficiency is also recommended by the American Academy of Allergy, Asthma, and Immunology 2
Hyper IgD Syndrome Characteristics
Clinical Features and Diagnosis
- The American Academy of Allergy, Asthma, and Immunology recommends recognizing that paronychia and felon are not characteristic features of hyper IgD syndrome, which is a mevalonate kinase deficiency 3, 4
- Paronychia and felon are superficial bacterial infections, most commonly caused by Staphylococcus aureus, affecting the nail fold and fingertip pulp space respectively, and are not listed among the autoinflammatory manifestations in the comprehensive classification of primary immunodeficiencies 3, 4