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

Abstract

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 ¼ 58) who were treated at the University Medical Centre Utrecht, The Netherlands, during the period 1975 -2003, and their affected relatives (n ¼ 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 ¼ 12: pancreatic islet cell tumours n ¼ 6 and carcinoid tumours n ¼ 6), the Zollinger-Ellison syndrome (n ¼ 4) and Cushing's disease (n ¼ 1). The remaining patients died of causes probably related to MEN-1 (n ¼ 3), unrelated to MEN-1 (n ¼ 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.

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

“…Malignancies are responsible for significant lowering ages of death verified for MEN1 (55.4 years for men and 46.8 years for women), as compared to life expectation in the general population (> 70 years). 29 No preventive surgical approach has been shown to significantly improve the outcome of MEN1. 1 However, it is accepted that the earlier the identification of MEN1 neoplasias, the better the clinical management of this disease.…”

“…25,26,31 Therefore, the establishment of a structured and longterm follow-up program focused on screening for MEN1 would be a worthwhile effort. 29 …”

Multiple endocrine neoplasia type 1: a case report and review of the literature

“…Of the mutation carriers 82-99% has at least one manifestation of the disease at the age of 50 [1,2,[8][9][10]. Patients with MEN1 have a shorter life expectancy than the general population [1,[11][12][13] with the most important causes of MEN1-related death is malignant pNETs and thymic NETs [1,[11][12][13][14].…”

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

“…13 The MEN1 gene mutation carriers still show high morbidity and mortality rates with the first cause of death being malignant pNETs and thymic NETs. 14,15 CASE REPORT We here present a large MEN1 family where the diagnosis was made from the proband on the basis of the MEN1 criteria: the presence of two of the three main related MEN1 tumours pHPT, pNET or PIT. 9 The proband manifested at 29 years diarrhoea, polyuria, polydipsia, tiredness, loss of weight and diffuse muscle pain.…”