The natural history of multiple endocrine neoplasia type 2A--a clinical analysis

The records of 18 patients with multiple endocrine neoplasia (MEN) type 2A in a family consisting of 87 members in 5 generations, were reviewed with respect to age at onset and length of survival in a study of the natural history of this syndrome. Of these 18 patients, 8 were alive following surgical treatment, while 10 had died without treatment. The clinical onset of medullary thyroid carcinoma was noticed as a nodule in the neck at between 17 and 34 years of age (mean 24 years); the onset of pheochromocytoma was characterized by palpitation, hypertensive attacks or recurrent headache at between 17 and 42 years of age (mean 27 years); and death occurred in 10 patients at between 23 and 67 years of age (mean 40.6 years). This information on the age at onset of individual clinical manifestations, and on the length of survival of gene carriers, may be useful for clinicians who are asked to assess the risk of the development of this syndrome in a genetically predisposed asymptomatic individual, because screening tests are often refused by members of Japanese families with MEN type 2A.