wilsons disease and hemochromatosis Flashcards
what is the mode of inheritance of Wilson’s disease ?
autosomal recessive
associated with copper metabolism
where is excess bile ecreted in ?
duodenum
what is the transport molecule for copper ?
ceruloplasmin
what is the hepatic copper transport protein?
ATP7B
what is the pathology associated with Wilson’s disease ?
mutation in ATP7B protein , on chromosome 13
leading to lack of copper excretion in the bile
increasing free radicl production
what is the diagnostic hallmark of Wilson’s disease ?
low ceruloplasmin levels
along with a decrease in total serum copper
what are the clincical features associated with wilsons disease ?
mean age is 12-23
cirrhosis
movement disorders
dyskinesia
dysarthria
behavioural changes
hemolysis
what type of anemia is associated with wilsons disease ?
coombs negative hemolytic anemia
what finding in the eye is specific to Wilson’s disease ?
kayser-fleischer rings
corneal copper deposits
when detecting wilsons disease what is the next best test to perform ?
sit lamp exam
what are the diagnostic test used for the diagnosis of wilsons disease ?
low ceruplasmin levels
high urinary copper excretion
kayser fleischer ring
what is the treatment of Wilson’s disease ?
penicillamine
what is the mode of inheritance of hemochromatosis ?
autosomal recessive , problem with iron
where is iron absorbed ?
duodenal cells
what is the uptake to plasma of iron regulated by ?
enterocytes
what is ferritin ?
iron storage protein
what is the pathology associated with hereditary hemochromatosis ?
abnormal HFE gene on chromosome 6
due to C282Y mutation
what are the causes of secondary hemochromatosis ?
due to excessive blood transfusions
when is secondary hemochromatosis commonly seen ?
beta thalassemia major
sickle cell anemia
what are the clinical features associated with hemochromatosis ?
hepatomegaly
diabetes
bronzed skin - bronzed diabetes
dilated cardiomyopathy
arthropathy
impotence
what are special instructions that must be followed by hemochromatosis patients ?
reduced alcohol consumption - accelerates liver disease
vitamin c should be avoided
what do the iron studies of a patient with hemochromatosis look like ?
everything is high except the TIBC
what is used in biopsy to diagnose hemochromatosis ?
prussian blue staining
what is seen on MRi of hemochromatosis ?
jet black liver - low signal
what is the treatment for the hereditary form of hemochromatosis ?
phlebotomy
iron chelating agents (deferoxamine)
