W2L10 Multiple Endocrine Neoplasia and Autoimmune Disorders

Question 1

Def men?

Answer 1

• Disorder w neoplasm in >=2 dif hormonal tissues in several members of fam
• Usually early age
• 3 well-defined MEN syndromes – MEN 1, MEN 2a, MEN 2b

Question 2

Etio men1

Answer 2

• Autosomal dominant trait
• 3rd/4th decade
• MEN1 MC
• High incidence foregut carcinoids
• Skin lesion(lipoma, facial angiofibroma)
• Race(unknown)
• Sex(M=F)

Question 3

The men1 is characterized by

Answer 3

1. Neoplasia Parathyroid gland(90%)
2. EnteroPancreatic tumor(80%)
3. Ant Pituitary adenomas(55%)
4. Adrenal adenoma(30%)
5. Non endocrine tumours

Question 4

Men 1. Patho

Answer 4

Inactivate mutation of tumor-suppressor gene MEN1 located at chromosome 11

Question 5

Etio Primary hyperparathyroidism

Answer 5

• MC manifest MEN1 (95–100%)
• Hypercalcemia-teenage (hyperplasia parathy gla)
• Most aff 40y (adenoma parathy gla)

Question 6

SS Primary hyperparathyroidism

Answer 6

1. Ca-containing kidney stone
2. Kidney failure
3. Nephrocalcinosis
4. Bone abn(osteoporosis)
5. GIT & musculoskeletal complaint

Question 7

Treatment Primary hyperparathyroidism

Answer 7

Criteria surgery

1. Individual w s ca lvl >12 mg/dL
2. Ca nephrolithiasis/ renal dysfx
3. Neuropathic/muscular symptoms
4. Bone involve(osteopenia)
5. <50y

Question 8

Enteropancreatic tumors

Answer 8

• 2nd MC MEN1,
• 30% malignant
• Parallel w hyperparathyroidism
• Tumor secrete peptide hormone coz specific cli syn

Question 9

List Enteropancreatic tumors

Answer 9

1. Gastrinoma(MC)
2. Insulinoma(25%)(2nd MC)
3. Glucagonoma(occasion)
4. VIPoma(1%)
   - coz profuse watery diarrhea
5. Somatostatinoma(0.7%)
   - coz dm, steatorrhea

Question 10

Gastrinoma

Answer 10

• Result ZES
• ZES coz by excess gastrin prod
• > 1/2 of MEN1
• > 1 gastrin-prod tumor(localize difficult)

Question 11

Manifestation gastrinomas

Answer 11

1. Esophagitis
2. Duodenal ulcer
3. Ulcers involve proximal jejunum
4. Diarrhea

Question 12

Diag gastrinoma

Answer 12

• Inc gastric acid secretion

- Inc basal gastrin lvl in serum >115 pmol/L

Question 13

Insulinomas etio & diagnosis

Answer 13

• Most originate in panc bed
• MC pancic tumor in MEN1
• May benign/malig

Diag

• Hypoglycemia(short fast)
• Elevate s insulin & C-peptide lvl
• CT/MRI(large)
• Intraoperative ultrasonography.

Question 14

Glucagonoma manifest & diag

Answer 14

1. Manifestation:
   - coz syn hyperglycemia,skin rash
   - anorexia, glossitis, anemia, depression, diarrhea, venous thrombosis
2. Diagnosis(glucagon lvl high)

Question 15

Pituitary tumors(20-30%) ss?

Answer 15

1. Prolactinoma(MC)
2. Acromegaly
3. Cushing

Question 16

TTT of Pituitary Tumors

Answer 16

• Prolactinomas w dopamine agonists (bromocriptine, cabergoline, quinagolide)=return s prolactin lvl to normal
• Surgical resection(xcure but relieve mass eff)

Question 17

Nonendocrine tumor

Answer 17

• Small facial angiofibroma
• Subcutaneous lipoma
• Collagenoma(firm dermal nodule)

Question 18

Adrenal adenomas /hyperplasia

Answer 18

• 50% bilateral.

- Benign & nonfunctional

Question 19

MEN 2A (Sipple’s Syndrome)

Answer 19

• Rare familial multiglandular syn(autosomal dominant trait)
• Mutate on chromosome 10
• 1st-degree relative may RET mutation

Question 20

Manifestations men2

Answer 20

1. Medullary thy carcinoma(>90%)
2. Hyperparathyroidism(20–50%), due hyperplasia/multiple adenomas(70%)
3. Pheochromocytomas(20–35%)
4. Hirschsprung’s diseas

Question 21

Laboratory Studies men2

Answer 21

• Pentagastrin calcitonin stimulation test(medullary gland)
• Urinary catecholamines & metanephrines screen(pheochromocytoma)
• S ca & PTH lvl(hyperparathyroidism)
• CT/MRI(adrenal)

Question 22

Treatment men 2

Answer 22

• MTC : Total thyroidectomy

- Thy hormone(hypothyroidism)

Question 23

MEN 2B

Answer 23

Familial, autosomal dominant multiglandular syn coz by mutation of (RET) on chromosome 10

Question 24

MEN 2B is characterized by

Answer 24

1. Mucosal neuromas (> 90%) w bumpy, enlarged lip & tongue
2. Marfan-likehabitus(75%)
3. Adrenal pheochromocytomas(60%)
4. medullarythyroidcarcinoma(80%)
5. intestinal ganglioneuromas
6. skeletal abn(87%)
7. delay puberty(43%)

Question 25

Follow up of MEN 2

Answer 25

- Monitor recurrence medullary thy car w calcitonin, CEA & +/- provocative calcitonin testing - Annual screening(hyperparathyroidism- s ca &PTH lvl MEN 2A - Urinary catecholamine lvl annual for pheochromocytoma - Medic dosage & adverse eff