Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?
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.


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.
Geerdink
Engelien A M
EA
Department of Internal Medicine, University Medical Centre Utrecht, The Netherlands.
Van der Luijt
Rob B
RB
Lips
Cornelis J M
CJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002423:Cause of Death; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008017:Life Expectancy; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality*; D009426:Netherlands; D012189:Retrospective Studies; D016019:Survival Analysis