Internal Medicine

0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16

1012 Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia 2

Prognosis

■Lifespan normal

■Prognosis excellent with regular screening

■Genetic testing reduces need for frequent biochemical screening,

increases early diagnosis and intervention, improves quality of

life

MULTIPLE ENDOCRINE NEOPLASIA 2

COLEMAN GROSS, MD

REVISED BY ANDREW R. HOFFMAN, MD

history & physical

History

■Family history of MEN2: autosomal dominant, may occur sporadi-

cally

■MEN 2A: medullary thyroid carcinoma (MTC), pheochromocytoma,

hyperparathyroidism.

■MEN2B: MTC, pheochromocytoma, mucosal neuromas.

■Familial isolated MTC is a third MEN2 syndrome

■MTC usually first tumor, defines MEN2 if family history of MTC and

other tumors; thyroid nodule; may be multifocal; MTC may present

with paraneoplastic syndrome due to production of variety of pep-

tide hormones

■Pheochromocytomas may be bilateral or rarely malignant; present

in 50% or more of MEN2A and 2B; associated symptoms: paroxysmal

headache, palpitations, etc

■Hyperparathyroidism occurs in up to 1/3 of MEN 2A cases; often

asymptomatic

■Mucosal neuromas in MEN2B; GI tract involvement can cause colic

in children

Signs & Symptoms

■MEN2A and 2B:

➣Hypertension variable, may be sustained

➣Thyroid mass

■MEN2A:

➣Occasional papular skin changes: cutaneous lichen amyloidosis

often involving upper back