Hyper-IgD syndrome (HIDS) is an auto-inflammatory disorder caused by deleterious mutations in the gene mevalonate kinase (MVK). HIDS most commonly presents as an episodic fever syndrome associated with aphthous mouth sores, rash, and poly-arthritis. However, the pulmonary and gastro-intestinal manifestations of HIDS are less well recognized.
We describe a patient who presented in early infancy with persistent fever, pneumonia, polyarthritis, and gastro-intestinal bleeding. At one year of age, he developed life-threatening intestinal obstruction. The diagnosis of HIDS was established based on clinical findings, DNA sequence analysis, and measurement of urinary mevalonic acid. Daily treatment using the recombinant interleukin-1 receptor antagonist anakinra resulted in marked improvement in the patient`s symptoms.
Most case series describing the clinical presentation of HIDS are derived from patients in whom disease is caused mainly by relatively "mild" MVK mutations. However, less common mutations may result in a more severe phenotype that is less widely recognized. HIDS should be considered in the differential diagnosis of persistent pneumonitis, inflammatory bowel disease, or gastrointestinal obstruction with onset during infancy.
