metabolic liver disease Flashcards
what is hemochromatosis ?
inherited disorder characterized by iron mediated tissue injury due to impaired absorption of intestinal iron
what is the genetic inheritance of HH?
autosomal recessive due to a mutation in the HFE gene
what is HH classified into ?
HFE related mutations
Non-HFE related mutations
what is the pathophysiology associated with HH ?
too much iron is absorbed
tissue poisoning occurs
through hemosedrosis free radicals from iron molecules are released leading to tissue fibrosis
which organs is the iron then deposited in?
liver pancreas skin joints gonads
what is the clinical presentation of HH /
amenorrhea degenerative joint disease testicular atrophy skin pigmentation right upper quadrant pain due to liver fibrosis cardiac affection T1DM
what would the lab results in a case of HH ?
increased iron
increased ferritin
decreased total iron binding capacity
what are the initial investigations if HH is suspected ?
serum transferrin saturation
serum ferritin levels
which test is more specific for HH ?
transferrin saturation
what is the next best step in investigation after finding an abnormal serum TS and ferritin level ?
HFE genotyping
what is the treatment for primary HH ?
regular phlebotomy
with regular checking of hematocrit and ferritin levels
shouldn’t fall more than n20% of prior level
which supplementation should be avoided in HH ?
vitamin C
what is the treatment for secondary HH ?
desferal/deferoxamine
what is Wilson’s disease ?
autosomal recessive disease associated with copper metabolism
what is the genetic defect in Wilsons disease ?
loss of ATP7B
what is the clinical presentation of Wilsons disease
occurs with neurological manifestation psychological manifestations opthalmolgic manifestations renal skeletal
what is the distinctive ophthalmic manifestation in Wilson’s disease ?
kayser-fleicher rings
what are the lab results in Wilsons disease ?
decreased ceruloplasmin levels
increased free copper
increased free copper in the urine
what is the treatment for Wilsons disease ?
low copper diet
D-penicillamine or trientine
what can be done in cases of D-penicillamine intolerance?
Patients intolerant of D- penicillamine may be treated with trientine or zinc
what is the most common metabolic liver disease in childhood ?
Alpha-1 antitrypsin deficiency
what is the genetic inheritance of alpha 1 antitrypsin ?
autosomal codominant and It is encoded by the SERPINA1 gene
what is the clinical presentation of alpha 1 antitrypsin ?
liver involvement
emphysema
vascular abnormalities
how do we make a diagnosis of alpha 1 antitrypsin ?
phenotyping
genotype
liver histology
