Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

@article{vanderHilst2008LongTermFC,
  title={Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome},
  author={Jeroen C H van der Hilst and Evelien J. Bodar and Karyl S. Barron and Joost Frenkel and Joost P. H. Drenth and Jos W. M. van der Meer and Anna Katharina Simon},
  journal={Medicine},
  year={2008},
  volume={87},
  pages={301-310}
}
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. In addition, we studied the quality of life and course of life in a selection of patients. Follow-up data were obtained by a questionnaire… 

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A prospective active surveillance was conducted in Germany during a period of 3 years to determine the incidence of HIDS and report clinical and genetic characteristics together with the underlying MVK genotypes in German children.

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The accumulating evidence on the efficacy and safety of biological drugs in pediatric HIDS suggests that the anti-interleukin-1 agent anakinra is the drug of choice for HIDS in children.

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Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred

An Arabic girl presenting since the age of 8-years with two patterns of recurrent episodes of fever, and associated with a spectrum of clinical features suggestive of overlap between familial Mediterranean fever (FMF) and HIDS, is reported.

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Four children have been successfully treated with etanercep, TNF‐alpha inhibitor, and three children with anakinra, IL‐1 receptor antagonist, and currently, there is no established treatment for HIDS.

Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.

Canakinumab proved effective to control disease activity and prevent flares in MKD during the 72-week study period and showed no new or unexpected adverse events.

The patient journey to diagnosis and treatment of autoinflammatory diseases

Experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF) are described to improve the quality of life of patients and families.
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