Disease Information for Hyper IGD syndrome/HIDS (12q24)

gene locus 12q24; HYPER IgD Syndrome [HIDS]; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; PERIODIC FEVER, DUTCH TYPE [Gene map locus 12q24]; the hyper-IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK);Dutch ancestry with a long history of recurrent attacks of fever of unknown origin; high serum IgD level and in the bone marrow a large number of plasma cells with cytoplasmic IgD; some patients had premonitory headache; High fever was usually preceded by chills and accompanied by headache and swollen glands; The white count was commonly increased to 10,000-20,000 cu mm; overlap with periodic fever disease; positive family history; fhx amyloidosis, fhx had periodic fever; Colchicine prevented attacks; The level of IgD was as high as 5300 IU/l in 1 patient and 1383 in a second, normal being less than 150;the recurrent febrile attacks usually had a very early onset, under 1 year of age; An even male-female distribution was found; Typical attacks occurred every 4 to 8 weeks and lasted 3 to 7 days with large individual variation; High spiking fever was sometimes preceded by chills; Abdominal pains, vomiting, and diarrhea were associated with the episodes; Headache and arthralgias occurred frequently with attacks; On physical examination during the attacks, swollen, tender lymph nodes, most often in the cervical region, could be palpated; Especially in younger patients, splenomegaly was found; Many patients had nondestructive recurrent arthritis, mainly in larger joints; Laboratory testing during attacks demonstrated an acute-phase response (leukocytosis, neutrophilia, and elevated ESR); Diagnosis was based on the clinical picture and a persistently elevated serum IgD level (more than 100 U/mL); Most patients also had an elevated serum IgA; The occurrence of febrile attacks elicited by various immunizations was a clue to early diagnosis; The attacks tended to diminish with age, although symptoms usually continued throughout life; Amyloidosis was rare; hyper-IgD syndrome ddx from other forms of hereditary periodic fever; HIDS or hyper-IgD syndrome almost always develops in infancy; If a patient presents with symptoms suggestive of the syndrome, IgD and IgA should be measured; If both are elevated, the diagnosis can be made; For confirmation, they recommended screening for the V377I mutation in the MVK gene[ 12q24]; Clinical Synopsis;INHERITANCE : Autosomal recessive;ABDOMEN :Spleen Splenomegaly (in childhood) Gastrointestinal; Abdominal pain; Diarrhea; Vomiting; SKELETAL :Limbs; Arthralgias ; Arthritis; Skin; Rash (erythematous macules or papules); NEUROLOGIC : Headache; HEMATOLOGY : Leukocytosis (mean leukocyte count 18700) Neutrophilia ;IMMUNOLOGY : Elevated polyclonal IgD (equal to or greater than 100 IU/ml); Elevated IgA (equal to or greater than 2_6g/L); Lymphadenopathy (cervical, inguinal, axillary) ; LABORATORY ABNORMALITIES : Mildly elevated urinary mevalonic acid; Elevated erythrocyte sedimentation rate (mean 90mm/h); MISCELLANEOUS : Prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache; Recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy ; Onset of symptoms less than one year ;

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