PMID- 14641000
OWN - NLM
STAT- MEDLINE
DCOM- 20040205
LR  - 20190906
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 149
IP  - 6
DP  - 2003 Dec
TI  - Do patients with multiple endocrine neoplasia syndrome type 1 benefit from 
      periodical screening?
PG  - 577-82
AB  - OBJECTIVE: To determine the benefit of periodical clinical screening of carriers 
      of a mutation in the multiple endocrine neoplasia type 1 (MEN-1) gene, because 
      any useful discussion requires more concrete data. DESIGN AND METHODS: Our study 
      population consisted of all the patients with MEN-1 (n=58) who were treated at 
      the University Medical Centre Utrecht, The Netherlands, during the period 
      1975-2003, and their affected relatives (n=29). Records of affected individuals 
      who died were analysed for morbidity, cause of death and age at death. We discuss 
      our results in the light of the literature on MEN-1 regarding the benefit of 
      screening. RESULTS: Over a period of 28 Years, we identified 87 individuals 
      affected with MEN-1, from 16 families. A mutation in the MEN-1 gene was detected 
      in 57%, 18% were obligate carriers, and in 24% the diagnosis was only clinically 
      confirmed. Thirty individuals died, 17 from MEN-1-related causes, including 
      malignancies (n=12: pancreatic islet cell tumours n=6 and carcinoid tumours n=6), 
      the Zollinger-Ellison syndrome (n=4) and Cushing's disease (n=1). The remaining 
      patients died of causes probably related to MEN-1 (n=3), unrelated to MEN-1 (n=7) 
      or of unknown causes. Mean ages at death from MEN-1 were 55.4 Years for men and 
      46.8 Years for women, in both cases significantly lower than the mean age at 
      death in the average Dutch population (P<0.05). CONCLUSIONS: We feel that the 
      significantly increased risk of premature death found in patients with MEN-1 
      justifies the periodical clinical screening of carriers of the MEN-1 gene 
      mutation. Early detection and treatment of abnormalities will probably reduce 
      this risk.
FAU - Geerdink, Engelien A M
AU  - Geerdink EA
AD  - Department of Internal Medicine, University Medical Centre Utrecht, The 
      Netherlands.
FAU - Van der Luijt, Rob B
AU  - Van der Luijt RB
FAU - Lips, Cornelis J M
AU  - Lips CJ
LA  - eng
PT  - Journal Article
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Cause of Death
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - *Life Expectancy
MH  - Male
MH  - Mass Screening
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/genetics/*mortality
MH  - Netherlands
MH  - Retrospective Studies
MH  - Survival Analysis
EDAT- 2003/12/03 05:00
MHDA- 2004/02/06 05:00
CRDT- 2003/12/03 05:00
PHST- 2003/12/03 05:00 [pubmed]
PHST- 2004/02/06 05:00 [medline]
PHST- 2003/12/03 05:00 [entrez]
AID - 10.1530/eje.0.1490577 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2003 Dec;149(6):577-82. doi: 10.1530/eje.0.1490577.