Epidemiology and Clinical Presentation

The true prevalence of MEN 1 is likely underestimated; data suggest a prevalence of 0.2 to 2/100,000.8 Major clinical manifestations in MEN 1 include the "3Ps": primary hyperparathyroidism (HPT) (95%), pancreatic endocrine tumors (PETs) (50% to 75%), and pituitary tumors (30% to 55%). Expression of the disease rarely occurs before 10 years of age and most often presents between 20 and 40 years of age.910 Two of the three major lesions must be present for the clinical diagnosis in probands. In family members of known MEN 1 kindreds, the presence of one major lesion is diagnostic (Table 76-1).11 Clinical diagnosis is confirmed by genetic testing.

All three major clinical manifestations arise in less than 12% of affected patients.12 Any of these three clinical manifestations may be the first component precipitating a diagnosis, but in most patients, primary HPT appears by the 3rd or 4th decades of life. Biochemical abnormalities can be detected decades before clinically overt symptoms become manifest.13 For example, biochemical abnormalities may be noted in affected adolescents in their mid to late teens when careful, regular screening is performed.14 Studies have shown that delaying screening until clinical symptoms develop can be associated with locally advanced disease or distant metastatic disease in as many as 50% of patients with PETs.13

Less common, but overrepresented, manifestations in MEN 1 include adrenocortical tumors,15"17 foregut carcinoid tumors,18 23 nonmedullary thyroid neoplasms (mostly follicular),24,25 and a host of unusual cutaneous/mucosal or visceral abnormalities, including multiple subcutaneous and visceral lipomas, multiple facial angiofibromas, hypomelan-otic macules, gingival papules, and collagenomas.25"27 Rare associations with MEN 1 also include meningiomas, ependymomas, pinealomas, renal cancers, rhabdomyosarcoma, leiomyosarcoma, and pancreatic ductal adenocarcinoma.25 28

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