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Clinical medicine A > disorders of multiple endocrine system > Flashcards

disorders of multiple endocrine system Flashcards

1
Q

what are men syndromes

A

autosomal dominant traits that cause predisposition to the development of tumors in two or more endocrine glands

can be malignant or benign

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2
Q

where is the most common mutation in multiple endocrine neoplasia type 1

A

90% of patients have a detectable germline mutation in menin

this mutation PREVENTS tumor suppression

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3
Q

what is menin

A

tumor suppressor protein encoded by MEN1

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4
Q

what age is clinical biochemial manifestations developed by?

A

40

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5
Q

what are the most common organs affected by multiple endocrine neoplasia type 1

A

parathyroid
pancreas
anterior pituitary

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6
Q

what is the imaging of choice of patients with multiple endcrine neoplasia

A

CT/MRI should be utilized for all suspects organs affected

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7
Q

what would you look for on a CT/MRI of a multiple endcrine neoplasia patient

A

location, size, staging and surgical evaluation of tumor

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8
Q

what is the most common tumor type in MEN1

A

parathyroid

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9
Q

What does a MEN1 parathyroid tumor cause

A

primary hyperparathyroidism (>90% of patients)

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10
Q

what is the epidemiology of parathyroid MEN tumors

A

earlier onset than PHPT not related to MEN1
(onset 20-25)

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11
Q

what would be the clinical findings of someone with a MEN1 parathyroid tumor

A

asymptomatic mild hypercalcemia with elevated PTH

remember hypercalcemia symptoms are stones, bones groans and moans

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12
Q

how do you confirm the location of a MEN1 parathyroid tumor

A

nuclear scan

thats just what the slides say, dont come at me.

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13
Q

how do you manage MEN 1 parathyroid tumor

A

surgical removal
rsk of partial (3.5 glands) = risk of surgical failure

risk of total (all 4 glads w autotransplantation) = permanent hypoparathyroidism

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14
Q

what is the nonsurgical treatment for MEN1 parathyroid tumors

A

treating hypercalcemia with:

oral cinacalcet (sensipar)

avoid oral calcium and thiazide diuretics

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15
Q

what is a GEP-NET

A

gastro-Entero-panreatic neuroendocrine tumors

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16
Q

what are the 5 types of GEP-NETs

A
  • Gastrinoma - MC
  • Insulinoma - 2nd MC
  • Glucagonoma
  • Vasoactive Intestinal Peptide (Vip) Tumors (VIPomas)
  • Pancreatic Polypeptide-Secreting Tumors (Ppomas) and Non-functioning Pancreatic NETs

GIG VP

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17
Q

what is a gastrinoma

A

gastrin secreting pancreatic tumor - MC MEN pancreatic tumor

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18
Q

what does gastrin do

A

stimulates secretion of gastric acid and assists in gastric motility

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19
Q

where are most gastrinomas found

A

duodenum

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20
Q

what is the description of a gastrinoma

A

“small, multiple and ectopic”

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21
Q

what are zollinger-ellison syndrome

A

gastrinomas of hypersecretion of gastric acid and recurrent peptic ulcers

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22
Q

how many patients with MEN1 develope gastrinomas

A

40%

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23
Q

what is the clinical presentation of gastrinomas

A

symptoms associated with hyperacidity of stomach:
* gastritis
* PUD
* GERD
* diarrhea

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24
Q

skipped slide 14

A
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25
Q

what are lab evals of gastrinomas

A

fasting gastrin: >150 suggestive, >1000 is diagnostic

secretin stimulation test:
+ results - serum gastrin levels post admin >120

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26
Q

what must be done prior to lab tests for gastrinomas

A

must d/c PPI 6 days prior and H2 1 day prior or else could lead to false results

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27
Q

how do you manage a gastrinoma

A

long term high dose proton pump inhibitor w/wo histamine 2 receptor antagonist

PPI: omeprazole, esomeprazole
H2: cimetidine, famotidine

surgery is controversial and outcomes are not definitive

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28
Q

what are insulinomas

A

β-islet cell, insulin-secreting tumors of the pancreas

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29
Q

when do insulinomas present

A

Most often presents between 2nd and 4th decade

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30
Q

what is the clinical presentation of insulinomas

A

hypoglycemia symptoms
* worsen w fasting or exertion
* improves w glucose/carb intake

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31
Q

how does hypoglycemia present

A

here ya go keinan<3

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32
Q

what are the most reliable labs for insulinomas, what do they require?

what are the additional labs?

A
  • 72 hour fast
  • requires hospital admission for direct supervision
  • hypoglycemic symptoms and BG <55mg/dL

additional labs:
plasma insulin (elevated)
c peptide (elevated)

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33
Q

how do you manage insulinomas

A

surgical removal is recommended.

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34
Q

how do you treat an insulinoma while wating for surgery or if surgery isnt an option

A
  • frequent carb intake
  • oral diazoxide
  • IM/SQ ocreotide (sandostatin) when diazoxide can’t be used
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35
Q

what is diazoxide (proglycem)

A

potassium channel activator (inhibits secretion of insulin)

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36
Q

what is octreotide (sandostatin)

A

somatostain analog
high dose inhibits insulin

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37
Q

what are glucagonomas

A

pancreatic tumor that secretes glucagon

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38
Q

what is the clinical presentation of glucagonomas

A

weight loss (MC symptom)
hyperglycemia
necrolytic migratory erythema (that’s the poonani ookalani rash)
stomatitis

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39
Q

what is the laboratory evaluations for glucagonomas

A

elevated BG
elevated fasting blood glucagon level >150

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40
Q

how do you manage glucagonomas

A

control blood sugar (same as DM management)
ocreotide - inhibits glucagon at high doses (also inhibits insulin)

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41
Q

when is surgical excision recommended for glucagonomas

A

if a single lesion is localized at the time of diagnosis

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42
Q

what is a VIPoma

A

a VERY RARE (1 in 10 million)

pancreatic tumor that secretes vasoactive intestinal polypeptide

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43
Q

what is VIP functions

A
  • binds to receptors in the intestine leading to fluid and electrolyte secretion into the intestinal lumen
  • vasodilation
  • inhibition of gastric acid secretion
  • bone resorption
  • enhanced glycogenolysis
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44
Q

what are the clinical findings of VIPomas

A
  • severe diarrhea that is tea colored and odorless >700ml/d
  • hypokalemia
  • hypomagnesemia
  • flushing
  • iron and B12 deficiency
  • hypercalcemia
  • osteoporosis
  • hyperglycemia
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45
Q

what is the lab eval for VIPoma

A

serum VIP concentration >75 confirmed by repeat testing
(normal is 0-59)

46
Q

what is the management for VIPoma

A
  • correct fluid, electrolyte and vitamin imbalances
  • ocreotide (inhibits VIP and helps diarrhea)
  • surgical excision of primary tumor
47
Q

when do you NOT do surgical excision of primary tumor of VIPomas

A

if there are mets present at diagnosis

48
Q

what are Ppomas and non-functioning pancreatic NETs

A

non functioning tumors that secrete various substances but do not present clinically with a hormonal syndrome

49
Q

How do Ppomas and non-functioning pancreatic NETs usually present

A

asymptomatic resulting in Metastasis to liver

50
Q

how do you manage Ppomas and non-functioning pancreatic NETs

A

surgery is controversial
* consider chance of mets (low chance of mets… surgical excision provides a better prognosis)
* 50-60% of surgery patients survive >5 years
* surgery can lead to many complications

51
Q

What do MEN1 pituitary adenomas secrete

A

60% secrete prolactin
<25% secrete GH
5% secrete ACTH
10-20% are nonsecretory

52
Q

what are the MC type of pituitary adenomas

A

> 1cm aka macroadenomas

53
Q

what is the clinical presentation of a pituitary adenoma secreting prolactin

A

female - galactorrhea, amenorrhea, and infertility
male - loss of libido, impotence, gynecomastia, infertility, galactorrhea

54
Q

what is the clinical presentation of a pituitary adenoma secreting GH

A

acromegaly

55
Q

what is the clinical presentation of a pituitary adenoma secreting ACTH

A

cushings disease

56
Q

what are the clinical pesentations of nonsecretory pituitary adenomas

A

compressed pituitary tissue (hypopituitarism)
optic chiasm (visual disturbances)

57
Q

what are lab evals of pituitary adenomas

A

“hypothalamic-pituitary testing based upon clinical presentation and suspected hormone hypersecretion - (see previously delivered material)”

58
Q

what is management of pituitary adenomas

A
  • selective transsphenoidal adenomectomy +/- radiotherapy for residual unresectable tumor tissue.
  • medical treatment is same as non-MEN1 tumors
    prolatinoma - cabergolin
    excessive GH - ocreotide
    excessive ACTH - pasireotide (somatostatin analog)
59
Q

when is surgery indicated in adrenal adenomas

A

often they are non-functioning and benign so surgery only indicated if >4cm (red flag for malignancy)

60
Q

what is a carcinoid tumor

A

a slow growing tumor of the bronchi, gastrointestinal tract, pancreas, or thymus

61
Q

How do you treat carcinoid tumors

A

often they are asymptomatic until late in the disease but surgical excision is still recommended

62
Q

what is a meningioma

A

tumor of the meninges - often asymptomatic

63
Q

how do you manage a meningioma

A

refer to neurosurgery for surgical v nonsurgical treatment

64
Q

what is a lipoma

A

tumor of adipose tissue

65
Q

what is facial angiofibromas and collagenomas

A

tumors of fibrous or collagen tissues

66
Q

what are the screening recommendations for MEN1 gene mutations

A
  1. 2 or more MEN1 associated endocrine tumors
  2. First degree relatives of an MEN 1 mutation carrier even if they are asymptomatic
67
Q

what is the genetic testing for MEN 1

A

direct DNA testing for MEN1 gene mutations

68
Q

what is the prognosis for MEN1

A

decreased life expectancy, with a 50% probability of death by age 50 years

69
Q

what is MEN Type 2

A

a disorder characterized by a predisposition of medullary thyroid carcinoma (MTC), pheochromocytomas, and parathyroid tumors

70
Q

what are the genetic mutations in MEN2

A

Genetic mutations in the RET proto-oncogenes

71
Q

where is the RET gene expressed and what does it do

A

thyroid
parathyroid
adrenal glands

provides instruction for producing signaling protein within nerve cells.

72
Q

what does a mutation of the RET gene lead to

A

excessive activation of signaling proteins resulting in tumor formation.

73
Q

what are the 3 subtypes of MEN2

A
  • MEN 2A (MTC, pheo, parathyroid)
  • MEN2B (MTCH, pheo and other skeletal soft tissue presentations)
  • familial medullary thyroid carcinoma (FMTCH)
74
Q

what is the most common MEN 2 tumor

A

medullary thyroid carcinoma

(most common in both MEN2A and MEN2B, only feature in FMTC)

75
Q

what occurs in MEN2 medullary thyroid carcinomas

A

malignant cells originate in the C cells of the thyroid and increase secretion of calcitonin

76
Q

what is the clinical presentation of a medullary thyroid carcinoma

A

solitary thyroid nodule (75-90%)
cervical LAD (70%)
hoarseness/dysphagia (15%)
distant metastasis (5-10%)

77
Q

what are the diagnostic studies used to diagnose medullary thyroid carcinomas

A
  1. serum calcitonin (elevated with palpable nodule(s))
  2. FNA biopsy
  3. genetic testing for RET gene muation
  4. PET scan if mets suspected.
78
Q

whatere are mets found in medullary thyroid carcinomas

A

early mets - cervial lymph nodes
Late mets - mediastinal nodes, lung, liver, trachea, adrenal, esophagus, and bone

79
Q

medullary thyroid carcinoma treatment

A

total thyroidectomy w lifetime supplemental thyroid hormone

80
Q

If a patient has a + RET mutation but has no disease, what prophylactic treatment should be done

A

prophylactic total thyroidetomy

81
Q

what should be avoided in MEN2 + RET patients

A

GLP-1 drugs such as ozempic

82
Q

what is the difference between MET2 and non-MET2 pheochormocytomas

A

MET2 are 60-80% bilateral

non-MET2 are only 10% bilateral

83
Q

how does a MET2 pheochromocytoma present

A

the same as a non-MET 2 pheochromocytoma: (4 P’s)

palpitations
pounding headache
profuse diaphoresis
paroxysms lastig <1 hour

also presents with episodic or sustained HTN

84
Q

how do you treat MEN2 pheochromocytomas

A
  • complete resection of tumor is recommended by a skilled surgeon (remember BP must be <160/90 prior to surgery)
  • use alpha adrenergic blockers at least 10-14 days prior to surgery
85
Q

what are the alpha adrenergic blockers

A

doxasozin
prazosin
terazosin

86
Q

if you have multiple MEN2 tumors that need to be removed, which one is ALWAYS removed first

A

pheochromocytomas

(im assuming because they make BP super labile during surgical procedurez)

87
Q

How do MEN2 parathyroid tumors present

A

same as PHPT

“asymptomatic mild hypercalcemia with elevated PTH

remember hypercalcemia symptoms are stones, bones groans and moans”

88
Q

what are diagnostics and treatment for MEN2 parathyroid tumors

A

same as MEN1 parathyroid tumors

“use CT/MRI, nuclear scan to confrim, also PTH levels and calcium levels

surgical removal
rsk of partial (3.5 glands) = risk of surgical failure

risk of total (all 4 glads w autotransplantation) = permanent hypoparathyroidism

oral cincalet (sensipar)
avoid thiazides and oral calcium”

89
Q

what is marfanoid habitus and when would you see it

A

seen as a clinical presentation in MEN2B

characterized by:
high arched palate
pectus excavatum
bilateral pes cavus
scoliosis

90
Q

what are neuromas and when are they seen

A

seen as a clinical presentation of MEN2B

growth of nerve tissue affecting eyelids, conjunctiva, nasal/laryngeal buccal mucosa, tongue and lips (hypertrophied lips)

91
Q

when would you see intestinal autonomic ganglion dysfunction and how does it present

A

MEN2B
presents as chronic constipation
or complications of chronic constipation such as multiple diverticula and megacolon

92
Q

what are the 5 groups that should be screened for MEN2/3

A
  1. all patients with MTC (despite family hx)
  2. all patients with MTC who has family hx of tumors
  3. all patients with MTC and pheochromocytoma w/o family hx of MEN2
  4. pts with BIL pheo
  5. pts with unilateral pheo especially with elevated calcitonin.

basically:
if they have MTC or pheo at all, theyre getting screened

93
Q

what is MEN type 4

A

a rare autosomal-dominant familial tumor syndrome caused by germline mutations in the gene CDKN1B¹

94
Q

what types of tumors is MEN4 associated with

A

parathyroid
pituitary
pancreatic

but also:
adrenal
renal
testicular
neuroendocrine cervical carcinomas

and associated with ovarian failure

95
Q

how do you manage MEN4 tumors

A

same as MEN1 tumors and non-MEN tumors

96
Q

what are autoimmune polyendocrine syndromes (APS)

A

Rare immune endocrinopathies characterized by the coexistence of at least two endocrine gland insufficiencies that are based on autoimmune mechanisms.

97
Q

what is the epidemiology of APS type 1

A

rare - 500 cases reported
higher freqeuncy in jews, sardinians, finns, norwegians and irish

98
Q

pathology of APS type 1

A

Autosomal recessive disorder caused by mutations in the AIRE gene (autoimmune regulator gene) found on chromosome 21

99
Q

what is the function of the AIRE gene

A

synthesizes a protein in the thymus called autoimmune regulator

autoimmune regulator protein helps T cells distinguis between self and foreign proteins and destroys autoimmune T cells

100
Q

mutation of AIRE leads to what

A

autoimmune attack on teh body’s tissues and organs

101
Q

clinical presentation of APS type 1

A

Characterized by 2 out of 3 major endocrinopathies:
1. chornic mucotaneous candidiasis (most often 1st symptom in infancy)
2. acquired hypoparathyroidism (often 2nd clinical presentation years after 1st symptom)
3. adrenal failure (addisons)

102
Q

besides the 3 characterizing endocrinopathies, what are other clinical presentations of APS 1

A
  • Gonadal failure (MC - females)
  • Poor dentition - (hypoplasia of dental enamel)
  • DM-I
  • Thyroid disease
  • Alopecia, vitiligo
  • Intestinal malabsorption, pernicious anemia
  • Chronic hepatitis
  • Nail dystrophy
  • Debilitating diarrhea or obstipation
103
Q

what are diagnostic evaluations of APS 1

A
  • Antibodies to anti-interferon alpha and omega are identified in 100% of patients!
  • genetic analysis showing AIRE gene mutation confirms diagnosis
104
Q

how do you manage APS 1

A
  • mucocutaneous candidiasis - ketoconazole
  • replacement of hormones as needed (gonadal, thyroid, pancreas, adrenal)
  • adrenal insufficiency treatment
105
Q

what is APS 2

A

Dysfunction of human lymphocyte antigen (HLA) complex on chromosome 6 resulting in inability to make proteins that identify cells as “self”

106
Q

what is the epidemiology of APS 2

A
  • peak age of 20-60
  • more common in female
  • usually has strong fam hx of multiple autoimmune disorders.
107
Q

what is the etiology of APS 2

A

unknown, but thought to be a combo of genetic and environemntal factors

108
Q

what is the clinical presentation of APS 2

A

characterized by 2+ of the following:
1. primary adrenal failure (addisons)
2. autoimmune thyroid disease
3. type 1 diabetes
4. primary hypogonadism

109
Q

what are other conditions that could present with APS 2

A
  • celiac
  • myasthenia gravis
  • vitiligo
  • alopecia
  • serositis
  • pernicious anemia
110
Q

what are diagnostics for APS 2

A
  • Diagnosis of each individual condition is based upon typical clinical presentation and laboratory diagnostics
  • No specific genetic test to confirm dx
111
Q

what must be monitored in APS 2

A

every 1-3 years screen for MC abnormalities:
* Comprehensive H&P
* CBC, metabolic panel, TSH, and vitamin B12 levels

Clinical medicine A (32 decks)

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