MEN Flashcards
1
Q
MEN- Type 1- Eti
A
- 2-10 per 100,000
- Parathyroid, enteropancreatic & pituitary tumors
- Non-endocrine: subcutaneous lipoma, facial angiofibroma & collagenoma
- Mutation in menin gene 60-95% caes
2
Q
MEN- Type 1- Sx
A
- Tumors in childhood
- Hyperparathyroid in 90%
- Enteropancreatic in 75% (gastrinoma)
- Insulinoma pr glucagonoma
- Pituitary adenoma
- Adrenal adenoma or hyperplasia
3
Q
MEN- Type 1- Dx
A
- Menin genetic testing
- Genetic linkage analysis
4
Q
MEN- Type 1- Tx
A
- Cinacalcet for HPTH
- PPI, hypercalcemia for gastrinomas
- Surgery- PTH resection, gastrinoma & insulinoma resection
5
Q
MEN- Type 2A-Eti
A
Sipple syndrome
- Medullary thyroid carcinoma
- Hyperparathyroidism
- Pheochromocytoma
- Genetic mutation
- Age of onset & aggressiveness linked to codon mutation
6
Q
MEN- Type 2A-Sx
A
- Bilateral pheochromocytoma
- Calcitonin levels in medullary thyroid carcinoma markedly elevated
7
Q
MEN- Type 2A- Dx
A
- Genetic testing
- Serum calcitonin following omeprazole to screen for medullary thyroid carcinoma
8
Q
MEN- Type 2A-Tx
A
- Thyroidectomy
- Screen for pheochromocytoma
9
Q
MEN- Type 2B- Eti
A
- Marfan like
- Skeletal abnormalities
- Delayed puberty
- Intestinal gaglioneuroma
- Adrenal pheochromocytoma, medullary thyroid carcinoma & mucosal neuromas
10
Q
MEN- Type 2B- Sx
A
- Early, aggressive medullary thyroid carcinoma
- Mucosal neuromas: bumpy, enlarged lips and tongue
- Marfan- like habits
- Intestinal abnormalities
- Skeletal abnormalities
11
Q
MEN- Type 2B- Dx
A
- Genetic testing
12
Q
Multiple endocrine neoplasia
A
Autosomal dominant traits that cause a predisposition to tumors in 2+ endocrine glands
