ERM2 - MEN and APS Syndromes

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Author:
jknell
ID:
184693
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ERM2 - MEN and APS Syndromes
Updated:
2012-11-20 16:46:03
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Endocrine Reproductive Pathology
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Endocrine and Reproductive Pathology
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  1. MEN1 Mneumonic
    • 3 Ps
  2. MEN1: Pathogenesis
    • -autosomal dominant
    • -mutations in menin gene (tumor suppressor)
    • -loss of fxn leads to hyperplastic growth
  3. MEN1: Clinical Manifestations
    • 1. Parathyroid Hyperplasia
    • 2. Pancreas tumors
    • 3. Pituitary Adenomas

    • 4. Collagenomas (80%)
    • 5. Carcinoid Tumors
    • 6. Lipomas
    • 7. Facial angiofibromas
    • 8. Adrenal adenomas
  4. Hyperparathyroidism
    • -usually first manifestation of MEN1
    • -100% penetrance by 50
    • -usually involves 3-4 glands
    • -sx: stones, bones and groans
  5. Enteropancreatic Tumors
    • 1. Gastrinoma (Zollinger Ellison) (40-60%)
    • -severe peptic ulcer disease and diarrhea

    • 2. Insulinoma (20%)
    • -hypoglycemia

    • 3. Other (rare)
    • -Glucagonoma
    • -VIPoma
    • -Somatostatinoma
  6. Pituitary Adenoma
    • 1. Prolactinoma (most common)
    • -amenorrhea, galactorrhea, hypogonadism

    • 2. GH secreting
    • -acromegaly

    3. Non-functional

    • 4. ACTH-secreting
    • -Cushing's Disease
  7. MEN2A Mneumonic
    • 2 P's
  8. MEN2A: Pathogenesis
    • -autosomal dominant
    • -mutations in Ret proto-oncogene
    • -expressed in neural crest cells (C cells of thyroid, chromaffin cells of adrenal)
    • -causes unregulated proliferation
  9. MEN2A: Clinical Findings
    • 1. MCT
    • 2. Pheochromocytoma
    • 3. Hyperparathyroidism
  10. Medullary Cancer of the Thyroid
    • -malignancy of C cells
    • -usually first manifestation of MEN2
    • -produces calcitonin (diarrhea, serum marker)
    • -tx: total thyroidectomy

    -presents earlier and is more aggressive in MEN2B
  11. Pheochromocytoma
    • -tumor of the adrenal medulla
    • -secretes catecholamines (Epi, NE, DA)
    • -often bilateral, rarely malignant

    • Sx: 5Ps
    • -Pressure (elevated BP)-Pain (HA)
    • -Perspiration
    • -Palpitations
    • -Pallor
  12. MEN2B Mneumonic
    • 1 P
  13. MEN2B: Pathogenesis
    • -Mutation in Ret
    • -same as MEN2A
  14. MEN2B: Clinical Findings
    • 1. MCT
    • 2. Pheochromocytoma
    • 3. Oral neuromas
    • 4. Marfanoid Habitus
    • 5. Bowel ganglioneuromas (constipation and diarrhea)
  15. APS
    -inherited association of multiple autoimmune endocrine disorders due to hypofunction
  16. APS Type I: Pathophysiology
    • -mutation in AIRE --> APECED
    • -autoantibodies to multiple endocrine organs
    • -autosomal recessive
    • -onset at infancy
  17. APS Type I: Clinical Findings
    • Diagnostic Triad
    • 1. chronic mucocutaneous candidiasis
    • 2. Autoimmune hypoparathyroidism
    • 3. Addison's Disease (adrenal insufficiency)
  18. APS Type II: Pathophysiology
    • -familial inheritence, genetic mutation unknown
    • -adult age of onset
  19. APS Type II: Clinical Findings
    • Diagnostic Triad (2/3)
    • 1. DM1
    • 2. Autoimmune thyroid disease (Hashimoto's or Grave's)
    • 3. Addison's Disease
  20. APS: Management
    • -hormone replacement for each manifestation
    • -longer term F/U for related disorders
    • -screening with TSH, autoab panels, electrolytes, CBC, Celiac panel

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