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… Expand
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TLDR
This case represents an unusual presentation for HIDS in that there were no recurrent febrile attacks, eye problems, arthritis, lymphadenopathy, splenomegaly, headache, or early onset of symptoms, which are frequently reported in patients with HIDS. Expand
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TLDR
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References

SHOWING 1-10 OF 52 REFERENCES
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
TLDR
The clinical relevance of the IgD measurement for the diagnosis of MKD in the population appears as poor, as reflected by likelihood ratios which are both close to 1.79. Expand
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
TLDR
Etanercept reduced the frequency and severity of symptoms in both patients, whereas the levels of serum IgD and urine mevalonate remained unchanged, suggesting that further investigation of this therapy is warranted. Expand
Hyperimmunoglobulinemia D and Periodic Fever Syndrome: The Clinical Spectrum in a Series of 50 Patients
TLDR
The hyper-IgD syndrome is distinct from other periodic fever syndromes like systemic-onset juvenile rheumatoid arthritis, adult-onsets Still disease, and familial Mediterranean fever and treatment is supportive. Expand
First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome.
TLDR
This is the first report to describe the occurrence of renal AA amyloidosis causing severe nephrotic syndrome in a young Italian man affected with the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). Expand
Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features.
TLDR
The main clinical features distinguishing FMF from HIDS were lymphadenectomy, skin eruption, and symmetrical oligoarthritis in HIDS, and monoarthritis, peritonitis, and pleuritis in FMF. Expand
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
TLDR
TRAPS is an underdiagnosed cause of recurrent inflammatory syndrome and its presence in the population of persons of Mediterranean ancestry and the short duration of the attacks of inflammation can lead to a fallacious diagnosis of FMF. Expand
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept
TLDR
A 3‐year‐old boy in whom genetic screening revealed a rare combination of two MVK mutations producing clinical HIDS as well as a TNFRSF1A P46L variant present in about 1% of the population is described. Expand
Quality of life of patients with familial Mediterranean fever.
TLDR
The QOL of FMF patients was found to be impaired compared to healthy controls, and further studies are needed to determine the exact factors affecting the quality of life ofFMF patients. Expand
Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome
TLDR
Preliminary evidence for the hypothesis that simvastatin may improve inflammatory attacks in the hyper‐IgD syndrome is offered and highlights the anti‐inflammatory properties of HMG‐CoA reductase inhibition. Expand
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model.
TLDR
It is proposed that this vaccination model will allow evaluation of treatment-on-demand in a controlled setting, and the IL-1ra analogue anakinra was more successful in aborting the inflammatory attack than etanercept. Expand
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