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39 Cards in this Set

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  • Back
why do we see hereditary Hemochromatossi less thatn CF?
decreased penetrance
what is the carrier rate of Hchrome?
homo?
symptoms
1 out of 9
1 out of 250
10% of homo
what is the classic triad for HHChrome?
other maifestations?
bronzing skin
liver diease
diabetes

fatigue maliase
arhtritis 2nd 3rd MCP
hypogonad: iron in gonads
restrictive heard disease bc iron in heart
why is phleobtomy helpful?
it can prevent symptoms
where is iron absorbed?
in duodenu by cells of villi, through DMT1 channel not a gated trnasport
what does ferroportin do?
what happens if you dont have FPN?
helps transport iron from enterocyte into ciruclation

w/o it, iron builds up in enterocytes and they are sloughed off in stool
what does hepcidin do to FPN?
where is hepcidin produced?
neg regulator: turns off aborption of iron

prod in liver
what causes anemia of chronic disease?
up reg of hepcidin during times of inflamation: leads to down reg of FPN and iron absorption
what does HFE protein do?
what happens if abonormal?
HFE upregs hepcidin
if abnorm, cant do it: leads to hemochromatosis, body keeps absorbing iron
what is the most important mutation test for HFE?
C282Y mutation
how much iron does a normal/HHchrome person absorb?
when does disease start?
normal 1-2 mg
HFE: 3-4
disease present later 40-50
20-30 see eleveated iron or liver transaminase
how did we test for Hchrom before genetic test?
liver biopsy prussian blue stain
blue: iron

under recog bc biopsy invassive, low penetrance
what does an opaque liver on MRI indicate?
eleveated iron deposition
how does iron cause hepatic tox?
iron cat free rads: lipid peroxidation: damages cell membranes

actiates hep stellate cells: collagen formation: fibrosis

also interacts iwthDNA directly: cell injury
what is the risk of HCC with Hemchrom cirrhosis compared with other cirrhosis?
musch higher risk of HCC with hemchrom
why is there male predominance of hemcrhom?
menses
gender diff absorption
when do you evaluate pt for hemchrom?
what do you evealuate?
wehn someone has abnormal iron, unknown liver disease, 1st degree fam

eveal: transferrin sat (iron boud/total iron binding capacity)
Ferritin
what do you do for hemcrhom pts that cant give blood?
IV deferoxamine: chelates iron to help excretion
why should hemchrom pts avoid shellfish?
vibrio vulnificus is more dangerous for them
where is heme produced?
85% in RBC
15% liver
what does heme do to ALA synthase?
it is a neg reg at the rate limiting step of heme synthesis
what causes AIP, a neurovisceral porphyria?
induction of ALAsyn leading to accumulation of ALA
what induces ALA syn?
alcohol
meds
fasting
hormone fluc
Severe abdominal pain
red wine urine
onset during puberty
female
increased urinary AL and rinary PBG
AIP
stop ALAsyn inducing meds
IV hemin: down regs ALAsyn
skin fragility
hyperpig
on areas of sun
slcelroderma, increas har, scaring
uroporphyrin in urine
PCT
how does PCT cause skin damage?
UV light: excites porphyrins: ROS: damae to cell membans: cell lysis of RBC, mast, fibroblasts in skin tissue

no fam history
what is the cause of wilson's disease?
excess copper due to mutation of ATP7B gene
what does copper do in the body?
cross links elastin in CT, free rad scavenger, elcetorn transfer
wht is ceruloplasmin?
protein that binds copper
what does ATP7B do?
codes for transporter that helps Cu to ceruloplasmin or trnasfer into biliary system to be excredted through bile ducts
what are the consequences of ATP7B mutation?
copper cannot get into the biliary system; cannot be excreted

copper cant bind apoceruloplasmin to make ceruloplasmin (ceruloplasmin levelsdecreas)
hepatobilliary symptoms
parkinsons like symtoms
copper deposit win basal ganglia on MRI
AST/ALT >2
alkphos/bilirugin <4
Wilson's disease
is serum total copper high or low in wilsons?
low bc low ceruloplasmin
24 urin copper is elevatd
what are kayser fleicher rigns?
copper deposits in cornea
found in wilson's disease
whats the Tx for wilson's?
chelators of copper D penicililamine and trientine
Zinc (reduces GI absorption of copper)
avoid copper foods
screen family
if someone has emphysema and liver disease what do you check for?
A1ATdef
what is the bimodal distribution of A1ATdef?
children: hepatitis and cirrhosis
older: emphysema (30-40% have liver disease)
what is the mech for damage in A1AT def?
makes A1AT, but stays in ER in hepatocytes: buildup of PI causes liver damage

A1AT cant get ito lund to coutneract elastase: emphysema
eval and Tx for A1AT?
eval: check plasma A1AT, check SERPINA for Z alleles (bad)

Tx: A1AT replacement for lung
transplant for end stage liver: new liver new genotype