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ENDOCRINOLOGY > Pheo/APS/MEN > Flashcards

Pheo/APS/MEN Flashcards

1
Q

Which HLA alleles are associated with risk of developing type 1 diabetes?

A
  • HLA DR3,DQ2 and DR4,DQ8
  • Present in 95% of those with DM1 and only 40% of general population
  • DQ rather than DR genotype is more specific
  • Specifically, lack of Aspartic acid at position 57 on DQ Beta chain allows autoantigen to fit better in the antigen-binding groove
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2
Q

Which environmental factors are associated with the development of DM1?

A
  • Infectious agents
    • Prenatal rubella infection (20%)- molecular mimicry increases risk of multiple autoimmune disorders
    • Coxsackievirus protein P2-C- amino acid similarity between this protein and GAD enzyme
  • Diet (Controversial)
    • Prevention trials have all failed:
      • EDNIT (European Diabetes NIicotinamide Intervention Trial)
      • DPT1 and 2 (Diabetes prevention trials)
  • Toxins ?
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3
Q

What environmental factor is important in developing autoimmune thyroid disease?

A
  • Iodine intake (dietary, or in drugs such as amiodarone or x-ray contrast media)
  • HLA class is not strongly linked
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4
Q

List 4 diabetes autoantibodies

A
  • Anti-GAD65
  • Anti-IA-2 (tyrosine phosphatase)
  • Anti-insulin
  • Anti-islet cell
  • Anti ZnT8
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5
Q

Addisons is associated with other endocrinopathies in ____ of cases

A

50%

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6
Q

List 2 adrenal antibodies (ACA’s = adrenal cortex antibodies)

A
  • Anti 21-hydroxylase
  • Anti 17-alpha-hydroxylase
  • Anti P450 scc (side chain cleavage)
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7
Q

When is autoimmune hypophysitis most common?

A

In women (8:1 vs men), during the latter half of pregnancy and first 6 months postpartum

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8
Q

List one parathyroid autantibody

A

Anti-CaSR

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9
Q

Compare APS 1 vs 2

A
  • APS1
    • Autosomal recessive, AIRE gene
    • F = M, onset in infancy
    • Endocrinopathy: Addisons, hypoparathyroidism, hypogonadism (less commonly DM1 and hypothyroidism)
    • Derm: chronic mucocutaneous candidiasis, alopecia, vitiligo
  • APS2
    • Polygenic, some HLA association
    • F > M, onset age 20-40
    • Endocrinopathy: thyroid disease, DM1, Addisons (less commonly hypogonadism)
    • Derm: vitiligo
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10
Q

What is the classic triad for APS1?

A
  1. Chronic mucocutaneous candidiasis
  2. Autoimmune hypoparathyroidism
  3. Adrenal insufficiency
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11
Q

How do you diagnose APS 2?

A

Clinically, with the presence of 2 of:

  • Adrenal insufficiency
  • Autoimmune thyroid disease
  • Type 1 diabetes
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12
Q

What is the classic triad seen in IPEX?

What is the gene?

A
  • Watery diarrhea
  • Eczematous dermatitis
  • Endocrinopathy/Autoimmune disease (most commonly DM1- including neonatal, but may have thyroid disease, Coombs positive anemia, thrombocytopenia, neutropenia, tubular nephropathy)
  • Gene: FOXP3, X-linked inheritance
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13
Q
  • Pheochromocytomas are located in the ______ and secrete ______.
  • Paragangliomas are located in the _____ and secrete ______.
A
  • Pheochromocytomas are located in the adrenal medulla and secrete epinephrine and norepinephrine.
  • Paragangliomas are located in the paraganglia and secrete norepinephrine.
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14
Q

Why does epinephrine deficiency co-exist in all causes of cortisol deficiency?

A

Cortisol is necessary to produce enzyme PNMT, which catalyzes the conversion of NE –> E

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15
Q

List 2 mechanisms by which patients with DM1 develop autonomic neuropathy

A
  1. Glucose neurotoxicity
  2. Autoimmunity
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16
Q

List 3 genetic conditions that predispose to pheochromocytoma/paraganglioma

A
  1. VHL: Von Hippel Lindau type 2
  2. SDHA/B/C/D: Succinate Dehydrogenase complex subunit A/B/C/D
  3. RET: MEN2A and 2B
  4. NF1: Neurofibromatosis
  5. EGLN2 and 1: Prolyl Hydroxylase Domain 1 and 2
17
Q

List 3 surveillance measures for patients with VHL2

A
  1. Regular BP monitoring
  2. Age 10-15: yearly retinal exams and BP measurements, plasma free normetanephrines
  3. Age >15: Twice yearly BP, plasma free normetanephrines
  4. Every 2 years: MRI brain/spinal cord and MRI abdomen
  5. If biochemical screening abnormal: MRI plus MIBG scan or 18F-FDA PET scan
18
Q

List 3 surveillance measures for patients with SDHB mutations

A
  • Regular BP monitoring
  • Twice yearly physical exam and BP monitoring, plasma free metanephrines and serum chromogranin A
  • Yearly ultrasound of neck, abdomen, pelvis
  • Every 3 years: MRI chest, abdomen, pelvis (PHEO, PGL and renal cell carcinoma)
  • MRI head and neck (PGL)
    *
19
Q

List 3 surveillance measures for patients with RET mutations (MEN2)

A
  • Twice yearly BP monitoring and physical exam, plasma free metabephrine, serum calcium/albumin and calcitonin
  • Prophylactic thyroidectomy by age 5 years (MEN2A) and 6 months (for codon 918 mutations in MEN 2B)
  • Yearly thyroid ultrasound
  • Before surgery/pregnancy: screen for pheo with plasma free metanephrines
20
Q

List 3 surveillance measures for patients with NF1

A
  • Twice yearly physical exam and BP, dermatologic exam for neurofibromas
  • Yearly CBC with differential, plasma free metanephrines, eye exam with visual fields
  • Before surgery/pregnancy: plasma free metanephrines
21
Q

What are the characteristics of MEN2A? MEN2B?

A
  • MEN2A
    • Medullary thyroid carcinoma (remove by 5y)
    • Hyperparathyroidism
    • Pheochromocytoma
    • Also cutaneous lichen amyloidosis and Hirschsprung disease
  • MEN2B (90% have methionine to threonine substitution on codon 918)
    • Aggressive medullary thyroid carcinoma
    • Mucosal neuromas
    • Pheochromocytomas
    • Adrenal medullary hyperplasia (remove by 6mos)
    • Marfanoid habitus, scoliosis/kyphosis, pectus excavatum, high arched feet, club foot
22
Q

What is more likely to metastasize, pheochromocytoma or paraganglioma?

A

Paraganglioma

23
Q

What is the clinical presentation of pheochromocytoma?

A
  • Hypertension
  • Headaches
  • Diaphoresis
  • Palpitations or tachycardia
  • Anxiety
  • Tremor
  • Abdominal/chest pain
  • Pallor
  • Nausea/vomiting
24
Q

List 6 medications that may confound the results of plasma catecholamines or metanephrines

A
  1. Acetaminophen
  2. Amphetamines
  3. Local anesthetics
  4. Bronchodilators
  5. Decongestants, ephedrine, epinephrine
  6. Labetalol
  7. Levodopa
  8. Metoclopramide
  9. MAOI’s
  10. Nitroglycerin
  11. Phenoxybenzamine
  12. SSRI’s, TCA’s
25
Q

List 3 medical options for preoperative alpha blockade in patients with PHEO

A
  • Phenoxybenzamine
  • Doxazocin
  • Calcium channel blockers (nicardipine)
26
Q

Why are beta blockers contraindicated in PHEO before adequate alpha blockade?

A

Can cause increased BP due to nonselective beta blockade. Unpredictable effects.

May use once alpha blockade has been achieved

27
Q

What are the major characteristics of MEN1, MEN2A and MEN2B

A
  • MEN1: parathyroid glands, endocrine pancrease and pituitary
  • MEN2A: medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism
  • MEN2B: medullary thyroid carcinoma, pheochromocytoma, NO hyperpara
28
Q

What types of enteropancreatic tumors are seen in MEN1?

A
  • Gastrinoma
  • Insulinoma
  • Non-functioning and PPoma
  • Glugaconoma
  • VIPoma
29
Q

What types of pituitary adenomas are most common in MEN1?

A
  • Prolactinoma (with or without GH)
  • GH secreting
  • Nonfunctional
  • ACTH secreting
30
Q

What does MEN1 code for?

What is the inheritance of MEN1?

A

Menin, a tumor suppressor gene

Autosomal dominant inheritance

31
Q

List 2 surgical approaches to treat parathyroid hyperplasia in MEN1

A
  1. Resection of 3.5 glands (leaving half of a gland in an attempt to prevent hypoparathyroidism). Higher rate of recurrence.
  2. Total parathyroidectomy with transplantation of most normal appearing tissue to the nondominant forearm. Higher rate of hypoparathyroidism.

ENDOCRINOLOGY (21 decks)

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