Arthritis & Rheumatism, Volume 62,
November 2010 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Atlanta, Georgia November 6-11, 2010.

Long-Term Follow Up of Hyper IgD Syndrome: A National Multicentre Study.

Federici8,  Silvia, Tommasini6,  Alberto, Meini7,  Antonella, Calcagno5,  Giuseppina, Zulian2,  Francesco, Consolini3,  Rita, Finetti8,  Martina

Clinica Pediatrica, Divisione Reumatologia Pediatrica, Ospedale Policlinico di Chieti
Dipartimento A.I. di Pediatria, Università di Padova
Dipartimento di Medicina della Procreazione e dell'Eta' Evolutiva, Università di Pisa, Italy
Dipartimento di Pediatria, Università Federico II, Napoli, Italy
Dipartimento di Scienze Pediatriche, AOU "G. Martino", Messina
IRCCS Burlo Garofolo, Trieste
Unità di Immunologia e Reumatologia Pediatrica, Spedali Civili, Brescia
UO Pediatria II Istituto G. Gaslini, Genova, Italy


Hyper-IgD syndrome (HIDS) is an autosomal recessive disease caused by mutation in the MVK gene. Aim of the study was to analyze the long term follow-up of a group of children and young adults affected by HIDS.

Patients & Methods:

The first 10 exons of MVK genes were analyzed in 720 consecutive patients with periodic fever by means of denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing. 40 patients carried 2 mutations of the MVK gene. Detailed clinical information were collected at the time of molecular analysis and last follow-up through a standardized questionnaire. Spontaneous disease course was classified as follows: i) resolution (no episodes in the last 6 months), ii) improvement (reduction of more then 30% of fever episodes) iii) stationarity iv) worsening (increase frequency of fever episodes or appearance of new major clinical manifestation).The Child Health Questionnaire (CHQ-PF 50) was used to assess the health related quality of life


the mean age of diseaseonset was 0.7 yrs (range1 months-3 yrs). At baseline, mean duration of fever episode was 4.7 days. The clinical features associated to fever episodes were abdominal pain (97.5%), cervical lymphadenopaty (97.5%) with pain (80%), diarrhea (77.5%), erythematous pharingitis (75%), vomiting (65%) and aphtous stomatitis (57.5%). So far, data on follow-up are available for 24 patients. The mean follow-up time was 13.8 yrs (range 2.3–38.2 yrs). Steroid on demand was effective in treating fever episodes. Ten patients showed a significant spontaneous reduction of the frequency of fever episodes. In the remaining 14 patients the frequency of fever episodes was stable (7 patients) or increased (7 patients). Complete resolution was achieved after introduction of Anakinra (2 patients) and tonsillectomy (1 patient). One patients improved after Anakinra, 2 after tonsillectomy. Two patient did not respond to Etanercept. Health–related quality of life at follow-up was generally affected when compared to a cohort of healthy age-matched individuals.


even if a relevant percentage of HIDS patient show a spontaneous amelioration of the disease, most of them display a tendency towards a persistence of fever episodes that affect their quality of life.

To cite this abstract, please use the following information:
Federici, Silvia, Tommasini, Alberto, Meini, Antonella, Calcagno, Giuseppina, Zulian, Francesco, Consolini, Rita, et al; Long-Term Follow Up of Hyper IgD Syndrome: A National Multicentre Study. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :1685
DOI: 10.1002/art.29450

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