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Introduction: Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) often presents within the first year of life. Symptoms include fevers, chills, headache, lymphadenopathy, and abdominal pain. Patients may be misdiagnosed as other autoinflammatory syndromes, resulting in delay of treatment. Case: A 16-year-old female presented for evaluation of recurrent fever. Her fevers started at two months of age, occurred one to two times a month, and were associated with headache, abdominal pain, and fatigue . At 18-months, she was diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA). She was treated with prednisone and an adenotonsillectomy but her fevers persisted. . At 10-years of age, she had an immunoglobulin (Ig) D level of 936 mg/dL, normal lymphocyte subsets, tetanus, and diphtheria titers. Repeat IgD was 56 mg/dL, but other immunoglobulins were normal. Pneumococcal titers were suboptimal but showed an adequate response after administration of pneumococcal booster vaccine. She was started on cimetidine 600mg twice a day, with reduced frequency in her fevers. A repeat IgD was 52mg/dL. Genetic testing showed two pathogenic variants of mevalonate kinase (MVK), confirming the diagnosis of HIDS. She was prescribed interleukin-1 (IL-1) inhibitor therapy. Discussion: HIDS is diagnosed by an elevated IgD greater than 100 IU/mL or 14.1mg/dL on two occasions at least a month apart. However, IgD can be elevated in other autoinflammatory syndromes. Genetic testing for mutations in MVK or an elevated urinary mevalonic acid can further confirm diagnosis. This may allow for earlier diagnosis and initiation of treatment with IL-1 inhibitors.


Allergy and Immunology | Pediatrics


Presented at the American College of Allergy, Asthma & Immunology (ACAAI) 2023 Annual Scientific Meeting; Anaheim, California; November 9-13th, 2023.

Evaluating Patients With Recurrent Fever and Elevated IgD