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Hunts 1A > Endo 2 Treatments and Diagnosis > Flashcards

Endo 2 Treatments and Diagnosis Flashcards

1
Q

Glycogen storage disease, labs and manage

A

Lab findings of hypoglycemia, ↑ LFTs, or CPK
(creatine phosphokinase)
Genetic testing - confirmatory
Complication → AKI

Tx:
Avoid hypoglycemia
Enzyme replacement therapy
Tx of complications

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2
Q

Fructosemia D&T

A

Genetic testing - confirmatory
Management: complete avoidance of fructose and sucrose

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3
Q

Galactosemia Dx

A

GALT enzyme def included in newborn

screening (WV)

RBC galactose-1-phosphate: ↑ in GALT def
GALT enzyme activity - ↓ in GALT def

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4
Q

Galactosemia Tx

A

Minimize dairy galactose
d/c breastfeeding/formulas

Use soy-based formulas (Alsoy, Isomil ProSobee)

Later avoid dairy products

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5
Q

Amino Acid Disorders Dx & Tx

A

Dx
Newborn screening (all states)
↑ plasma phenylalanine

Tx
* Dietary restriction of phenylalanine (avoid meat, dairy, nuts, aspartame)
* Supplement tyrosine
* Sapropterin (Kurvan) - adults/peds - activates PAH to promote breakdown of phenylalanine
* (only use if pt still as enzyme)
* Pegvalisale (Palyniq) - adults ONLY - degrades phenylalanine

like peg adults only- degrades like bdsmn lannisters

sap-rope-turn like a funnel cake is sticky like sap and twisty

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6
Q

Maple Syrup Disease D&T

A

Dx: Newborn screening
Prenatal screening

Tx:
* Dietary management - strict protein restriction
* Medical grade formula/food; Trial of thiamine supplement - 4wks
* Control metabolic decomposition: lower BCAA levels via hemodialysis
* Inhib further protein catab and enhance protein synth: d/c protein intake x 24-48hrs
* IV glucose - provides calories (prevents protein catab for energy)
* IV insulin if glucose is > 130mg/dL - insulin enhances endogenous protein synth
* Liver transplant - last resort

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7
Q

Homocystinuria Dx and Tx

A

Dx:
Newborn screening - ALL states
↑ homocysteine and methionine in plasma of urine

Tx:
* Dietary modification - protein restriction
* Vitamin B6, B12, folate supplements (helps convert homocysteine → methionine)
* Supplement cysteine
* Betaine (Cystadane) - helps convert
* homocysteine → methionine

be tame for home w mom

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8
Q

Types of glucosphinolipids

part of cell wall. protect from degrading enzymes

A

Types of glycosphingolipids:
Gangliosides - Tay-Sachs Dz
Cerebrosides - Gaucher Dz
Globotriaosylceramide - Fabry Dz
Sphingomyelin - Niemann-pick Dz

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9
Q

Gaucher Disease Dx

A

Newborn screening (handful of states)
Low beta-glucosidase leukocyte enzyme activity
Genetic testing - confirmatory:
Rec in Ashkenazi Jews
Prenatal testing possible

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10
Q

Gaucher Disease tx

A

Enzyme-replacement therapy (ERT) w/
recombinant glucocerebroside (Imiglucerase)
Helps breakdown glucocerebroside
NOT effective in ↓ CNS s/s

Substrate-reduction therapy (SRT):
Blocks prod of glucocerebroside
Eliglustat (Cerdelga) and miglustat (Zavesca)

a gausher surrounded can an igloo

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11
Q

Tay Sachs Disease Dx and Tx

A

Dx
* Genetic counseling
* Newborn screening (WV), pregnancy screening
* Hex A enzyme analysis - low level

Tx
Supportive care
s/s control
Manage inf

Prevent complications → OT, feeding tube

Prevention:
Carrier screening, genetic counseling (esp
Ashkenazi Jews, French-Canadians, Cajuns)
Emerging - Hex A enzyme replacement tx,
substrate reduction tx

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12
Q

Fabry Disease Dx and Tx

A

Dx
* GLA enzyme activity ↓
* Confirm w/ genetic testing

Tx
* Enzyme-replacement - cornerstone of tx
* Agalsidase beta (Fabrazyme)
* Chaperone tx - migalastat (Galafold)
MOA: ↑ GLA enzyme activity preventing
accumulation of GL3 (adults ONLY)

Control neuropathic pain

Stroke prevention (ASA + Clopidogrel, antiHTN, statins)

A gal said my gala stat needs a chaperone. fairies have gallas

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13
Q

Niemann-pick disease Dx and Tx

A

Dx
* Newborn screening (NOT in WV)
* Genetic testing

Tx
* ERT for NPD Type B - olipudase alfa-rpcp (Xenpozyme)
* NO ERT is FDA-approved for Type A or C
* Supportive care - PT/OT, feeding tube

  • O2 tx and blood transfusion; avoid contact sports if splenomegaly

play with pudding in the tub

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14
Q

Pompe Disease Dx and Tx

A

Dx:
* Newborn screening (NOT in WV)
* Acid α-glucoside (GAA) levels ↓
* Genetic testing confirms dx
* Prenatal screening

Tx
* Enzyme replacement therapy - alglucosid- α (Lumizyme)
* Monitor - risk of gradual weakness, fractures, dysphagia, sleep apnea

alglucosid-a = algorythm cheer speech

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15
Q

Hyperphosphatemia tx only

A
  • Acute severe dz - IV fluids if no CKD
  • Hemodialysis if CKD
  • Mild dz - dietary restrictions (avoid dairy, meats, beans)

Mod-severe - phosphate binders:
* Calcium acetate (PhosLo)
* Lanthanum carbonate ( Fosrenol)
* Sevelamer (Renagel)

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16
Q

Hypophosphatemia tx

A

Treat underlying disorders

  • Avg pt req 1-2g of phosphate per day for 7-10days to replenish body stores
  • Mild hypoP - ↑ dietary phosphate intake (dairy, meats, beans)
  • Mod-severe hypoP - phosphate supplement (Na or K Phosphate)

1g/d for a week.
mild fix with diet
severe fix with supplement

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17
Q

Phosphorus supplement

A

Na or K phosphate in capsule or liquid
AE: weakness, N/V/D, abd pain, brady,arrhythmia

CI: hyperP, severe renal imp, hyperK
Safe in pregnancy

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18
Q

Hypomagnesemia tx

A

↑ dietary Mg - dark green veggies, legumes (beans/peas), nuts, seeds, whole, unrefined grains

Pharm replacement:

Severe (tetany, arrhythmias) - 50mEq of IV Magnesium

Mild-Mod - PO Magnesium
Replenish Ca and K if indicated

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19
Q

Phosphate binders

A

indicates in ESRD on dialysis
when you have too much phosphorus and you need to get rid of it

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20
Q

Paget Disease Dx Tx

A

Dx
* * ↑ alkaline phosphate and bone-specific
* alkaline phosphate (BSAP)
* XRAY:
* Early dz - lytic lesion
* Later dz - lytic lesions and excessive bone formation
* Radionucleotide bone scan - determines extent of dz

Tx
* Bisphosphates - inhib osteoclast activity
* Alendronate (Fosamax)
* ibandronate (Boniva)
* risedronate (Actonel)
* zoledronic acid (Reclast)
* NSAIDs for joint pain
* Ca and Vit. D supplement

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21
Q

Men 1 wermer syndrome

A

Management

Sx removal: controversial btw partial and total parathyroidectomy:
Partial: 3 1⁄2 glands removed → Risk of sx failure

Total: all 4 glands w/wo autotransplantation → Risk of permanent hypoparathyroidism

Surgical failure and recurrence rates are high
Ectopic parathyroid tissue is common

Hypercalcemia - nonsurgical treatment
Oral cinacalcet (Sensipar)
Avoid oral calcium and thiazide diuretics

22
Q

Gastrinoma Labs and Dx

A

Fasting serum gastrin:

> 150 pg/mL is ind; >1000 pg/mL is diagnostic
Secretin stimulation test:
(+) - serum gastrin levels post admin >120 pg/mL

over baseline levels

D/C PPI 6d prior and H2 blocker 1d prior to
testing → otherwise false positive results
Convert PPI to H2 therapy in appropriate pts

PPI - Omeprazole

23
Q

Gastrinoma Management

A

Conservative tx is rec:

Long-term high-dose (PPI) +/- histamine 2-R antagonist

omeprazole (Prilosec) or esomeprazole (Nexium)
+/- cimetidine (Tagamet), famotidine (Pepcid)

Treat hypercalcemia
Sx is controversial
Most often rec to prevent liver metastasis

24
Q

Insulinomas Dx

A

72-hr fast: most reliable test
Req hospital adm
Additional testing during fast:
[Plasma insulin] - ↑
C-peptide levels - ↑

25
Q

Insulinoma Management

A

Sx removal is rec
Meds while waiting for sx or if CI to sx:
Freq carb intake

PO diazoxide (Proglycan) - K+ channel activator - inhibits secr of insulin
Everolimus (Afinitor) - antitumor agent that induces insulin resisitance

26
Q

Glucagonoma Labs, Dx, Tx

A

Labs and Dx:
↑ BG

↑ fasting blood glucagon level > 150 pg/mL

Management:
Control BG

Octreotide - inhibits glucagon and insulin
Rec if single lesion is localized at time of dx

27
Q

VIPoma-rare dxtx

A

Dx:

[serum VIP] > 75 pg/mL; confirm w/ repeat

Management:

Correct fluid, electrolyte, and vitamin imbalances
octreotide - inhibits VIP - helps control D
Sx excision of primary tumor, if no mets at diagnosis

28
Q

Pancreatic polypeptie secreting tumors and non functioning pancreatic nets

A

MC - macroadenomas (>1 cm)

Management:

Selective transsphenoidal adenomectomy

+/- RT

Medical tx is the same as non-MEN1 tumors:
PRLoma - DA agonist
Excessive GH - octreotide - ↓ GH secr
Excessive ACTH - pasireotide (Signifor) -
inhibits ACTH secr

29
Q

MEN1 other tumor

A

Meningioma

Tumor of the meninges - often asympt
Refer to neurosurgeon for sx vs non-sx mgmt

Adrenal adenoma
Often non-fxnal and benign
Sx is only indicated if > 4 cm

Carcinoid tumor

Slow-growing tumor of the bronchi, GI tract,

pancreas, or thymus
Asympt until late in dz
Sx excision is recommended

30
Q

MEN1 screening

A

Gene mutation screening rec:
≥ 2 MEN1 assoc endo tumors
1st degree relatives w/ MEN1 mutation carrier even if asympt

Genetic testing:
Direct DNA testing for MEN1 gene mutations

Prognosis:
↓ life expectancy w/ a 50% probability of death by 50y/o

31
Q

Medullary Thyroid Carcinoma Dx

A

Dx:

Serum calcitonin - ↑ w/ palpable nodule FNA biopsy

Genetic testing for RET gene mutation
PET scan if mets is suspected
Early mets - cervical lymph nodes
Late mets - mediastinal nodes, lung, liver, trachea,
adrenal, esophagus, and bone

32
Q

Medullary Thryoid Carcinoma Tx

A

Treatment:

Total thyroidectomy followed by lifetime
supplemental thyroid hormone
Prophylactic total thyroidectomy should be
offered to patients with (+)RET mutation w/o disease

Avoid GLP-1 drugs

33
Q

Pheo Labs and Tx

A

Dx-
Plasma free metanephrines
Urine-fractionated metanephrines and creatinine
Clonidine suppression testing
Non-contrast CT of adrenal gland
PET scan - r/o malignancy

Tx-
Sx resection

α-blockade at least 10-14d prior to Sx
Pheos need to be removed prior to any other
surgical procedures of MEN2 pts

34
Q

Parathyroid tumors dx tx

A

Confirm tumor location w/ parathyroid nuclear scan

Management:

Sx removal: controversial btw partial and total parathyroidectomy:
Partial: 3 1⁄2 glands removed → Risk of sx failure

Total: all 4 glands w/wo autotransplantation → Risk of permanent hypoparathyroidism

Hypercalcemia - nonsurgical treatment
Oral cinacalcet (Sensipar)
Avoid oral calcium and thiazide diuretics

35
Q

MEN2 screening

A

MEN2 Screening Rec - RET mutation:
All pts w/ MTC (despite FMHx)
d/t de novo germline RET mutation

Patients w/ bilat pheo or unilat pheo (esp w/ increased calcitonin levels)

36
Q

MEN4

A

Management - similar to MEN1 tumors as well on individual non-MEN tumor management recommendations

37
Q

Autoimmune polyendocrine syndromes

A

Polyglandular AI (PGA) Sundromes - rare immune endocrinopathies characterized by the
coexistence of ≥ 2 endocrine gland insufficiencies that are based on AI mechanisms

38
Q

Autoimmune polyendocrine syndrome Type 1

juvenile

A

Dx:
* Based on presentation and lab diagnostics
* 2 out of the 3 endocrinopathies confirmed on testing

  • Genetic analysis - AIRE gene mutations
  • confirm diagnosis
  • Antibodies to anti-interferon alpha and omega can be identified in 100% of patients

Tx:
* Mucocutaneous candidiasis - ketoconazole

  • Replacement of minerals/hormones as needed - calcium (parathyroid), thyroid, gonadal, adrenal
  • Increased risk of acute Addisonian crisis when initiating treatment of assoc endocrinopathies
  • (ensure patients are appropriately treated for adrenal insuff before treating other conditions)
39
Q

APS type 2

Dysfxn of human lymphocyte antigen (HLA) complex on chromosome 6
HLA allows immune system to recognize as self

A

Dx
No specific genetic test to confirm dx
clinical diagnosis

Tx-
Individual disease component tx:

Graves dz- radioactive iodine, antithyroid medications, surgery
Hormone replacement - thyroid, gonadal, adrenal

Increased risk of acute Addisonian crisis when initiating treatment of associated endocrinopathies
(ensure patients are appropriately treated for adrenal insufficiency before treating other conditions)

40
Q

Monitoring APS Type 2

A

Dx:
Based on typical presentation and lab diagnostics
No specific genetic test to confirm dx

Monitoring:
Every 1-3yrs- screen for MC abnormalities
Comprehensive H&P CBC, metabolic panel, TSH, and vitamin B12 levels

41
Q

Dx Precocious Puberty

A

assess bone age - Xray

Step 1: Initial Laboratory Evaluation
Serum testosterone - ↑ in all cases
Serum LH and FSH levels - ↑ in CPP
low/normal in peripheral causes

Step 2: Confirm CPP from peripheral etiologies:
Indication - LH/FSH are borderline high ULN
GnRH-analogue stimulation test:

Rx: leuprolide - stimulates the anterior pituitary to release LH/FSH

Results:
↑ in LH indicates CPP
No rise in LH = peripheral etiology

Step 3: Look for peripheral source:
Serum hCG - ↑ in hCG tumor
DHEA - ↑ in CAH and adrenal tumors
17α-hydroxyprogesterone - ↑ in CAH

Genetic testing if concern for LH/Gsα mutations or if presentation is consistent with MAS

Step 4:

MRI to r/o CNS lesion w/ CPP or ↑ hCG

OR

CT chest/abd - r/o hCG tumor of the
mediastinum, liver, or peritoneum or
androgen-secreting adrenal tumor

OR

Testicular US - r/o Leydig-cell tumor

42
Q

Precocious Puberty Tx - CPP

A

Treat underlying cause if known (CNS tumor)
Idiopathic CPP: long-acting GnRH agonists - Leuprolide acetate

MOA - chronic stimulation of the GnRH-R in pituitary → desensitization of the R and ↓ LH/FSH

Initial stimulation ↑ LH/FSH and sex steroid prod
Prolonged stimulation ↓ LH/FSH to prepubertal levels

Effects:

Stops early pubertal development
delays bone maturation prevents early
epiphyseal closure → ↑ final height
Monitor: halting of s/s, suppression of
LH/FSH/testosterone (puberty resumes after d/c of med)

43
Q

Precocious Puberty - Peripheral

A

Tumors - surgical removal
Exogenous steroids - identify and remove source
CAH - suppress androgen prod w/ glucocorticoids

McCune-Albright syndrome and familial male-limited precocious puberty:

Androgen-R antagonist (spironolactone) + aromatase inhibitors [anastrozole (Arimidex)] - blocks conversion of testosterone to estradiol

Alt: Steroid synthesis inhibitor - ketoconazole - req high dosing leading to a risk of hepatotoxicity
Goal: halt further sexual development and prevent premature closure of the epiphyseal plates

44
Q

Delayed Puberty Dx

A

XRAY - bone age

Bone age delayed and growth velocity is normal

→ CDGP
Serum testosterone - low for age
Gonadotropins:

LH/FSH ↑ - primary hypogonadism or gonadal

failure

LH/FSH ↓ - secondary hypogonadism

45
Q

Delayed puberty Management

A

Presumed congenital delay of growth and puberty (CDGP):
Reassurance with f/u vs. testosterone therapy

Consider testosterone if pt’s self-esteem is affected d/t stature and/or prepubertal appearance

Testosterone replacement therapy:

Secondary hypogonadism - interrupted therapy after 6mo to determine if endogenous LH and FSH secretion has ensued

Primary hypogonadism - indefinite therapy
+/- aromatase inhibitor → greater final adult height

46
Q

T indications

A

Testosterone therapy indications:
Lack of puberty onset by 14y/o

Primary testicular failure (hypergonadotropic hypogonadism)

Severe hypogonadotropic hypogonadism of any etiology w/ serum testosterone levels < 150 ng/mL

Age-related hypogonadism

Condition Definition

47
Q

Age related hypogonadism

A

Hypogonadal testing should be utilized ONLY
when symptoms are present

ONLY rec if at ≥ 3 s/s of androgen def w/ testosterone levels <200 ng/dL and benefits outweigh risk
S/S: ED, poor morning erection, ↓ libido, depression, fatigue, and inability to perform vigorous activity

Goal of therapy: maintenance of secondary sexual characteristics; ↑ libido; improved muscle strength, fat-free mass, and bone density

48
Q

Gynecomastia - mass

A

Malignancy will be unilateral, non-tender, and offset from areola

Observe x 3 mo for regression

If no regression begin 9-12mo of med therapy:
Selective estrogen-R modulator (tamoxifen)
Aromatase inhibitor - anastrozole (Arimidex)
Sx for persistent or severe s/s > 12mo

49
Q

Gynecomastia - breasts tender

A

Neonatal - reassurance, no intervention
Pubertal - reassurance - s/s resolve w/i 1-2 yr
Drug-induced - d/c therapy and monitor for improvement of s/s
Androgen deficiency - testosterone therapy
hCG tumor - imaging (CT/MRI) and refer to general surgeon

50
Q

Goals Testosterone

A

Restore testosterone levels, Dev and maintain secondary sexual characteristics and normal sexual fxn, Build and sustain normal bone and muscle mass, Assist in

the proper psychosocial adjustment of adolescents w/ hypogonadism

51
Q

Test management

A
  • Eval pt 3-6mo after tx initiation, then annually
  • Monitory testosterone levels 3-6mo after initiation of tx
  • Check hematocrit (CBC) before starting, at 3-6mo, then annually
  • If hematocrit is > 54% stop tx until it is decreased → eval pt for hypoxia and OSA
  • Measure bone mineral density of lumbar spine/femoral neck after 1-2yrs of tx in hypogonadal men w/ osteoporosis

Men ≥ 40y/o w/ baseline PSA > 0.6ng/mL, perform a digital rectal exam and check PSA

before initiating tx, then at 3-6mo

52
Q

Test CI and guidelines

A

CI: metastatic prostate CA, breast CA

Caution w/ undiagnosed prostate nodule or induration, PSA > 4ng/mL,
erythrocytosis (hematocrit > 50%), severe urinary tract s/s assoc w/ benign prostatic hypertrophy, uncontrolled CHF

Guidelines:

Avoid testosterone replacement in pts w/ mild vague s/s and borderline/low testosterone on occasion
Trial tx should be avoided

Testosterone therapy suppresses pituitary-testicular axis, spermatogenesis, and ↓ testicular

Hunts 1A (18 decks)

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