Alcohol & Metabolic Liver Diseases Flashcards

1
Q

ddx for abnormal AST and ALT (alcohol & metabolic causes)

A

*alcohol
*metabolic dysfunction-associated steatotic liver disease (MASLD) [formerly, non-alcoholic fatty liver disease]
*hemochromatosis
*Wilson’s disease
*alpha-1 antitrypsin

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2
Q

ddx for abnormal alkaline phopshatase (alcohol & metabolic causes)

A

*choledocholithiasis
*tumor

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3
Q

imaging for abnormal LFTs

A
  1. ULTRASOUND should be the first test
    -more sensitive than CT for gallstones
    -equally sensitive for dilated ducts
    -portable, cheap, no radiation, no IV contrast
  2. CT if the ultrasound is negative
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4
Q

acute alcoholic hepatitis - clinical features

A

*history: significant alcohol exposure, RUQ pain, fever, jaundice
*PE: fever, RUQ tenderness, hepatomegaly
*labs: AST/ALT > 2:1, AST < 300
*liver biopsy: MALLORY BODIES, steatosis, PMNs, ballooning

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5
Q

LFTs for acute alcoholic hepatitis

A

AST / ALT > 2:1, AST < 300

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6
Q

mallory bodies

A

*histology finding indicative of acute alcoholic hepatitis

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7
Q

acute alcoholic hepatitis - treatment

A

*alcohol abstinence
*nutritional support
*prophylaxis against gastric mucosal bleeding (PPIs)

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8
Q

alcoholic cirrhosis - clinical features

A

*history: significant alcohol exposure (50 gm EtOH per day x 20-30 years for males; half of that for females)

*exam:
-spider angiomata, palmar erythema
-Dupuytren’s contractures
-parotid enlargement
-gynecomastia
-testicular atrophy
-peripheral neuropathy

*LABS:
-AST/ALT > 2:1
-increased GGT
-increased MCV (large RBCs)

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9
Q

metabolic dysfunction-associated steatotic liver disease (MASLD) - epidemiology

A

*more common in men & Hispanics
*associated conditions:
-obesity
-diabetes mellitus
-hyperlipidemia (TG and/or cholesterol)

note - this is NON-ALCOHOLIC FATTY LIVER DISEASE

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10
Q

metabolic dysfunction-associated steatotic liver disease (MASLD) - diagnosis

A

*AST/ALT < 1
*exclude other causes (HBV, HCV, hereditary hemochromatosis)
*liver ultrasound
*liver biopsy good but rarely used

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11
Q

metabolic dysfunction-associated steatotic liver disease (MASLD) - treatment

A

*diet, exercise, weight loss
*treat associated conditions (DM, hyperlipidemia)
*bariatric surgery
*GLP-1 agonists?

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12
Q

hereditary hemochromatosis - etiology

A

*autosomal recessive mutation of HFE gene
*caused by reduced hepatic release (or activity) of hepcidin

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13
Q

hereditary hemochromatosis - clinical manifestations

A

*after age 40 in men, 50 in women
*fatigue, arthropathy, diabetes, impotence, hyperpigmentation, cardiomyopathy

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14
Q

hereditary hemochromatosis - diagnosis

A

*transferrin saturation > 50%
*ferritin > 200
*genetic testing C282Y/C282Y

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15
Q

hereditary hemochromatosis - treatment

A

phlebotomy to ferritin < 50

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16
Q

secondary hemochromatosis - etiology

A

*due to excess iron intake:
-ineffective erythropoiesis (sideroblastic anemia)
-repeated blood transfusions for chronic anemia
-beer brewing in iron drums (Africa)

17
Q

secondary hemochromatosis - treatment

A

desferoxamine

18
Q

alpha-1 antitrypsin disease - pathophysiology

A

*liver disease caused by accumulation of MISFOLDED alpha-1 antitrypsin protein (“gain of function”)
*mutations cause the alpha1-AT protein to polymerize in the ER of hepatocytes

*absence of alpha-1 antitrypsin (alpha-1 AT) is the primary mechanism for premature development of pulmonary emphysema or COPD in affected patients (“loss of function”)

19
Q

alpha-1 antitrypsin disease - clinical manifestations

A

*liver damage & dyspnea in young patients
*lung disease (inadequate protease inhibitor activity)
*liver disease (accumulation of variant A1AT in hepatocytes)
*normal phenotype: MM ; pathogenic: ZZ (autosomal codominant inheritance pattern)
*presentations: hx of NEONATAL HEPATITIS, INCREASED LFTs, hepatitis, cirrhosis
*treatment: liver transplant

20
Q

Wilson’s Disease - etiology

A

*autosomal recessive problem with copper transport (AT7B gene mutation causes failure of apoceruloplasmin transporter)
*leads of copper accumulation in many organs

21
Q

Wilson’s Disease - clinical manifestations

A

*LIVER DISEASE + NEUROPSYCHIATRIC FEATURES
*chronic hepatitis or fulminant hepatitis
*associated clinical features:
-neuropsychiatric disease (tremor, EPS sx)
-hemolytic anemia
*PE: Kayser-Fleischer rings

22
Q

Wilson’s Disease - diagnosis

A

*decreased ceruloplasmin
*increased urinary copper

23
Q

Wilson’s Disease - treatment

A

*d-penicillamine (chelates copper)

24
Q

Kayser-Fleischer rings

A

*indicative of Wilson’s disease