Abstract
Hyperimmunoglobulinaemia D syndrome (HIDS) is defined as recurrent fever, generalised lymphadenitis, abdominal pain, arthritis and raised polyclonal serum IgD >100 IU/ml. The cause is a mutation in the mevalonate kinase gene. Other periodic fever syndromes are known. We report a new patient and describe orbital tendonitis as a hitherto unreported symptom Conclusion: Without any underlying cause, the tendonitis must be seen as new symptom of variant hyperimmunoglobulinaemia D syndrome. We speculate that the inflammation of the Tenon spatium is similar to the process of inflammation of the connective tissue in the joint in hyperimmunoglobulinaemia D syndrome where deposits of C3 and IgM are present. Variant hyperimmunoglobulinaemia D syndrome can be present in one family.
Similar content being viewed by others
Abbreviations
- CINCA :
-
chronic infantile neurological cutaneous and articular syndrome
- FCAS :
-
familial cold autoinflammatory syndrome
- FMF :
-
familial Mediterranean fever
- HIDS :
-
hyperimmunoglobulinaemia D syndrome
- MK :
-
mevalonate kinase
- MWS :
-
Muckle-Wells syndrome
- TRAPS :
-
TNF-receptor associated periodic syndrome
References
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O’Shea JJ, Kastner DL (2001) The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 69: 301–314
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffmann H, Lovell DJ, Lipnick R, Barron K, O’Shea JJ, Kastner DL, Goldbach-Mansky R (2002) De novo germ-line mutations in CIAS1 establish NOMID/CINCA in the spectrum of genetic disorders in the pyrin family of autoinflammatory diseases. Arthritis Rheum 46: 3340–3348
Boom BW, Daha MR, Vermeer B-J, van der Meer JWM (2000) IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever. Arch Dermatol 126: 1621–1624
Drenth JPH, Van der Meer JW (2001) Hereditary periodic fever. N Engl J Med 345: 1748–1757
Drenth JPH, Boom BW, Toonstra J, Van der Meer JWM, International Hyper-IgD Study Group (1994) Cutaneous manifestations and histological findings in the hyperimmunoglobulinemia D syndrome. Arch Dermatol 130: 59–65
Drenth JPH, Haagsma CJ, Van der Meer JWM (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. Medicine 73: 133–144
Drenth JPH, van Deuren M, van der Ven-Jongekrijg J, Schalkwijk CG, Van der Meer JWM (1995) Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood 85: 3586–3593
Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22: 178–181
Drenth JPH, Vonk A, Simon A, Powell R, van der Meer JW (2001) Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharmacol Exp Ther 298: 1221–1226
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71: 198–203
Hiemstra I, Vossen JM, van der Meer JWM, Weemaes CM, Out TA, Zegers BJ (1989) Clinical and immunological studies in patients with an increased serum IgD level. J Clin Immunol 9: 393–400
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2002) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 29: 301–305
Houten SM, Kuis W, Duran M, de Koning TJ, Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22: 175–177
Kumano Y, Nagato T, Kurihara K, Kikukawa H, Goto M, Kawano Y, Ohnishi Y, Inomata H (1997) Hyperimmunoglobulinemia D in idiopathic retinal vasculitis. Graefe’s Arch Clin Exp Ophtalmol 235: 372–378
Simon A, Cuisset L, Vincent MF, Van der Velde-Visser SD, Delpech M, Van der Meer JWM, Drenth JPH (2001) Molecular analysis of the mevalonate kinase gene in a cohort of patients with the Hyper-IgD and periodic fever syndrome: its application as diagnostic tool. Ann Intern Med 135: 338–343
Simon A, Drewe E, van der Meer JWM, Powell RJ, Kelley RI, Stalenhoef AFH, Drenth JPH (2004) Simvastatin treatment for inflammatory attacks of the hyper-IgD and periodic fever syndrome. Clin Pharmacol Ther 75: 476–483
Van der Meer JWM, Vossen JM, Radl J, van Nieuwenkoop JA, Meyer CJLM, Lobatto S, van Furth R (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1: 1087–1090
Acknowledgements
We are indebted to Dr. T. Wilson for her help in creating this manuscript.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Armbrust, S., Drenth, J.P.H., Schröder, C. et al. Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome—a rare disease with a new symptom. Eur J Pediatr 164, 391–394 (2005). https://doi.org/10.1007/s00431-005-1652-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-005-1652-9