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