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

MERLINI, GIAMPAOLO
2008-01-01
2008
Medical Research, Diagnosis & Treatment contains studies of existing and developing diagnostic and therapeutic techniques, as well as specific classes of clinical intervention. Resources in this category emphasize the difference between normal and disease states, with the ultimate goal of more effective diagnosis and intervention. Specific areas of interest include pathology and histochemical analysis of tissue, clinical chemistry and biochemical analysis of medical samples, diagnostic imaging, radiology and radiation, surgical research, anesthesiology and anesthesia, transplantation, artificial tissues, and medical implants. Resources focused on the disease, diagnosis, and treatment of specific organs or physiological systems are excluded and are covered in the Medical Research: Organs & Systems category.
MEDICINE
sì
WOS:000260978100001
2-s2.0-58149195381
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
87
301
310
9
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. fit addition. we studied the quality of lite Mid Course of life in a selection of patients. Follow-up data were obtained by a questionnaire sent to all physicians of patients in the international HIDS Database. In addition. we assessed the course of life and quality of life in Dutch patients aged >16 years using validated quality of life instruments. Data were obtained from 103 patients from 18 different countries. The median age of first attack was 6 months (rang-c. 0-120 mo). with a median period of 9.9 years from onset of disease to diagnosis. The most frequent symptoms that accompanied attacks of fever were lymphadenopathy, abdominal pain, arthralgia, diarrhea. vomiting, skin lesions, and aphthous ulcers. Amyloidosis was a severe but infrequent complication (2.9%). The median serum IgD level was 400 U/mL. IgD levels were normal in 22%, of patients. The 4 most prevalent Mutations (V3771, 1268T, H20P/N, P167L) accounted for 71.5% of mutations found. The frequency Of attacks decreased with the patient's increasing age, although 50% of patients over the age of 20 years still had 6 or more attacks per year. Many drugs have been tried in HIDS. Some patients responded to high-close prednisone (24.4% response). Anakinra and etanercept can also be effective (33.3% response). Quality of life was determined in a Subgroup of patients (n = 28). Social functioning, general health perception, and vitality were significantly lower in patients with HIDS than in controls, as were autonomy and social development. In addition, HIDS had all adverse impact oil educational achievements and employment status. In conclusion, HIDS is ail early-onset disease that is accompanied by in array of inflammatory symptoms. Although the frequently of attacks decreases during the patient's life, many patients continue to have frequent attacks. HIDS impairs several aspects of quality of life.
HIDS; natural history; therapy
7
info:eu-repo/semantics/article
262
J. C., H.; E. J., Bodar; K. S., Barron; J., Frenkel; J. P. H., J. W. M.; A., Simon; Merlini, Giampaolo
1 Contributo su Rivista::1.1 Articolo in rivista
none
1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/149524
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