multiple endocrine noeplasia

Question 1

MEN-1: what diseases?

Answer 1

parathyroid adenomas most common
pancreatic islet and other GI problems (gastrinoma, insulinoma, glucagonooma, VIPoma, PPoma, somatostatinomoa)
Pituitary neoplasias (esp. prolactinomas)
autosomal dominant mutation of menin tumor suppressor

Question 2

What is a gastroma? What should I know about MEN-1 gastromas? how do you test? other symtpoms?

Answer 2

most common islet cell tumor
aka zollinger ellison
most MEN-1 gastrinomas are malignant and are often multiple
cause raised fasting gastrin and icnreased basal gastric acid secretion
test with secretin
often see ulcers and diarrhea

Question 3

Tx of gastroma

Answer 3

resection, H2 blockers, PPI

Question 4

What features are seen with insulinoma?

Answer 4

hypoglycemai with incr. C peptide/ insulin, and proinsulin

Question 5

Features of glucagonoma

Answer 5

necrolytic migratory erythema

hyperglycemia

Question 6

VIPoma

Answer 6

watery diarrhea, hypokalemia, achlorhydria

Question 7

features of somatostatinoma

Answer 7

hyperglycemia, gallstones, steatorrhea, low acid output (inhibits glucugon and insulin, but insulin more than glucugon, so you get the hyperglycemia)

Question 8

Screening in a pt with MEN-1

Answer 8

calcium and PTH, prolactin, and gastrin screening

Question 9

MEN 2a

Answer 9

medullary thyroid cancer: 95%
pheochromocytoma: 60%
parathyroid
gain of functiuon ret tyrosine kinase gene mutation

Question 10

variants of MEN-2a

Answer 10

1. cutaneous liche amyloidosis: causes pruritis, upper back, and amyloid deposits: dark spots on back
2. Hirschprung’s syndrome

Question 11

Hereditary Pheochromoctyomas

Answer 11

Von hippel lindau
MEN-2: often bilateral
Neurfibromatosis I
hereditary paraganglioma syndromes

Question 12

MEN-2b

Answer 12

medullary thyroid carcinoma
pheochromocytoma
oral mucosal neuromas and intestinal ganglioneuromatosis
associated with gain of function tyrosine kinase ret mutation

Question 13

hereditary paraganglioma syndromes

Answer 13

SDH B, C, and D
D is maternally imprinted, so transmitted exclusively by dad. foten at skull and base of neck.
B and C are autosomal dominant

Question 14

screening in pts with MEN2

Answer 14

look for medullary thyroid carcionma
look for pheos with fractionated catecholamines
look for hyperparathyroidism by looking at serum calcium

Question 15

treatment for MEN2

Answer 15

thyroidectomy if pt has MEN 2

parathyroids: 3 and a half gland removal