liver 2 Flashcards
Inability to bind copper normally in ceruloplasmin due to genetic defect
Wilson’s disease
Wilson’s dz Pathophysiology:
failure to bind copper to ceruloplasmin = accumulation of copper in liver
eventually backup into brain, cornea and kidney
Wilson’s MC diagnosed populations
liver dz in children 9-13 y/o OR neurologic disease in young adults 15-21 yrs
consider Wilson’s in which pt?
young w/:
Hepatitis or splenomegaly
Portal hypertension
Neurologic or psychiatric abnormalities
Coombs negative Hemolytic anemia
Wilsons manifestations - Liver:
transaminase elevation,
steatosis,
cirrhosis,
portal HTN,
+/- fulminant liver failure
Wilsons manifestations – Neurologic:
dysarthria
ataxic gait,
tremor,
dystonia
Wilsons manifestations -Psychiatric
personality and behavior changes,
emotional lability,
socially inappropriate behavior
Wilsons - Pathognomonic sign
Kayser-Fleisher ring
how is Wilson’s diagnosed? LAB values
increased urinary copper excretion
low serum ceruloplasmin levels
low serum Cu levels
tx of Wilson’s disease
Chelation therapy and lifestyle changes (diet restriction and zinc supplementation)
Hemochromatosis
Pathophysiology:
increased small absorption of iron = accumulation of hemosiderin in the liver, pancreas, heart, adrenals, testes, and kidneys
excess iron causes what issues
production of free radicals =
DNA cleavage
impaired protein synthesis
impairment of cell integrity
cell proliferation
Hemochromatosis
epidemiology
autosomal recessive
MC in Caucasian,
> 50, earlier in men (women menstruate)
Hemochromatosis s/s
hepatomegaly, elevated transaminases, fibrosis, cirrhosis
DM, impotence, Dilated Cardiomyopathy, conduction deficits, susceptibility to infection and skin bronzing
w/u Hemochromatosis
serum transferrin >45% or serum ferritin >200,
genetic testing
Imaging: MRI/CT show signs of iron overload
Hemochromatosis tx
dietary restriction
weekly phlebotomy
AATD patho
genetic defect that does not allow AAT to be released, therefore they accumulate in the liver
AATD diagnosis
low serum AAT level
special staining of tissue from liver biopsy
autoimmune hepatitis
epidemiology
young/middle aged 40-50 years, women > men
s/s of autoimmune hepatitis (general)
arthritis, Sjogren’s syndrome, thyroiditis, nephritis, UC, Coombs + hemolytic anemia
liver specific s/s of autoimmune hepatitis (6)
Hepatomegaly, jaundice, splenomegaly, spider angiomata, ascites, encephalopathy
lab work up autoimmune hepatitis
Transaminases > 1000 autoantibody testing (ANA, Anti-SM), liver biopsy
tx autoimmune hepatitis
mild elevation
low dose prednisone
tx autoimmune hepatitis
mod-severe
prednisone and azathioprine
NAFLD/NASH patho
obesity and overconsumption of calories causes deposition of fat in liver causes oxidative stress and inflammation
NAFLD/NASH epidemiology
Diagnosed in 40s-50s, MC Hispanics > Caucasians > Blacks
Associated with obesity, hypertension, dyslipidemia, insulin resistance/diabetes
NAFLD/NASH labs
Mild elevations in transaminases (100s) or Alk phos (2-3x ULN, bilirubin normal)
NAFLD/NASH Causes:
obesity
DM
medications (corticosteroids, amiodarone, tamoxifen, diltiazem, HAART)
NAFLD/NASH tx
diet, weight loss, exercise
alcoholic liver dz in women
more likely to develop alcoholic hepatitis after consumption of less alcohol and after shorter time, progresses much more quickly
alcoholic liver dz
increased likelihood
nutritional deficiencies
concurrent HBV/HCV
other liver toxin ingestion
clinical manifestations of alcoholic liver dz
non-specific (malaise, nausea, low grade fever)
UGIB, confusion, AMS, ascites
Alcohol withdrawal
alcoholic liver dz Lab Findings:
AST elevated 2x ALT macrocytic anemia thrombocytopenia L shift leukocytosis prolonged PTT
mc cause of mushroom toxicity
amateur mushroom foragers picking one of 100 species that cause harm
timeline of mild mushroom toxicity
Milder poisonings typically become symptomatic early (w/in 5 hrs)
timeline of severe toxicity
Mushrooms can produce hepatic and renal failure, typically do not produce symptoms for 6-24 hrs
clinical manifestations of mushroom toxicity
Fulminant liver failure
Renal failure
GI toxicity
Hemolytic anemia
Rhabdomyolysis
Electrolyte abnormalities
End result of hepatocellular injury (fibrosis and nodular regeneration thru out the liver)
Cirrhosis
Cirrhosis symp
Abdominal pain
Impotence
Gynecomastia
insidious onset of weakness, fatigability, disturbed sleep, muscle cramps, and weight loss
Cirrhosis signs
Rectal varices (hemorrhoids)
Palmar erythema
Dupuytren’s contractures
Muscle wasting
Ascites, pleural effusions, peripheral edema
Spider nevi
Caput medusa
cirrhosis lab findings
Thrombocytopenia (decreased production and splenomegaly)
Anemia (multifactorial)
Leukopenia/neutropenia
Coagulopathy (increased INR)
Moderately elevated liver enzymes
tx of cirrhosis
confirmation of diagnosis and staging, avoidance of alcohol, healthy diet, balanced protein intake
Sodium restriction if patient has fluid retention
Protein restriction if hepatic encephalopathy
Ultrasound screening q 6 months
cirrhosis complications
Ascites
Spontaneous Bacterial Peritonitis
Hepatic Encephalopathy
Esophageal Varices
