Hyperimmunoglobulinemia D Syndrome Variant — Seek and You Shall Find

Abstract

80% neutrophils, elevated C-reactive protein (CRP) 222 mg/dl (nl 0–6), positive antinuclear antibody with nucleolar pattern, positive c-antineu trophil cytoplasmic autoantibodies and IgG anticardiolipin antibody 20 IU (normal to 10). Urinalysis and complement concentrations were normal. Viral and bacterial serologies were negative, with cultures sterile. Computed tomography of neck, lungs, and abdomen revealed only the cer vical lymphadenopathy and hepatosplenomegaly. A skin biopsy of the rash showed mild perivascular mononuclear infiltrate of the superficial dermis, with no evidence of vasculitis. The patient was treated with diclofenac, with gradual resolution of the signs — including fever, rash, and lym phadenopathy — within 7 days. Review of his past medical records at the hospital revealed 8 admissions since the age of 19 years with episodes of abdominal pain, rash, diarrhea, pleuritis, and lymphadenopathy. A previous lymph node biopsy at age 19 was consistent with a reactive pattern. A bone marrow biopsy was normal, and a previous skin biopsy showed leukocyto clastic vasculitis. In assessing him for various periodic syndromes, his immunoglobulin levels were measured and elevated IgD, 150 mg/ml (nor mal range 0–8 mg/ml), and IgA, 7.54 mg/ml (normal range 0.9–3.2 mg/ml) were noted. Gene mutation analysis of MVK revealed a single V377I muta tion in exon 11; MEFV and TNF receptor mutations were absent. Urine mevalonic acid was undetectable during the attack.