genetic disorder where intestinal iron absorption is unregulated, causing excess iron; mostly in white ppl
Hemachromatosis (HH)
4 ways we typically lose iron
sweat, skin cells, GI tract, periods
stages of HH in total body iron (in grams) before age 20, 20-30 and above 40 yo.
hepatic iron is above normal before the age of 20.
from 20-30 is typically when it gets diagnosed; can progress to tissue injury (~25g)
around 40yo, can be 35g of iron, causing cirrhosis & organ failure.
7 clinical features of HH
- LFT abnormalities
- hepatomegaly
- fatigue
- skin bronzing
- DM
- early onset impotence
- arthralgia
who are your target pop. for HH?
- unexplained liver dz
- sx of HH
- first degree relative w/ confirmed HH
4 measurements useful in diagnosing HH
ferritin– over 300
serum iron– over 180
transferrin saturation– over 50
TIBC– under 300
what is transferrin saturation
serum iron divided by TIBC; higher in males
initial screening test for HH? (1) interpret the results (2)
TS + ferritin
if TS under 45% + normal ferritin= no further eval.
if TS over 45% and/or elevated ferritin= genetic testing w/ HFE genotype PCR testing
how is HH treated? initial vs maintenance
- phlebotomy before cirrhosis or DM to improve mortality
- 1-2x a week initial
- 3-12x/yr maintenance; can start this after ferritin drops
what is the single most important determinant of patient outcome in HH?
cirrhosis development
does phlebotomy affect risk of hepatocellular carcinoma in HH?
no– still a threat
2 most common cause of death in HH
complications from portal HTN & HCC
general prognosis for noncirrhotic HH patient
almost the same as general population if treated– which is why early detection is important
for hep A-E tell me
- acute or chronic or both
- route of transmission
- A: acute, fecal oral
- B: Both, bodily fluids
- C:both, blood
- D: chronic only, only with D
- E: acute, fecal-oral,
which viral hepatitis is gotten via fecal-oral route? which is associated with worst outcome if pregnant?
- A & E are fecal-oral
- E is associated with increased risk of fulminant hepatitis if pregnant
which 3 viral hepatitis can be chronic? which one is chronic only & only exists with B?
B,C,D can be chronic
D can only be chronic & only with B
which hep is gotten via blood? via bodily fluids?
Hep C: blood
Hep B: bodily fluids
what is the condition?diagnosis?tx?
- self-limting sx of fatigue, fever, N/V, jaundice, dark urine, itching
hep A
Labs– IgM,IgG
Tx: supportive
- DNA virus found in blood, semen, vaginal fluids
- can survive outside the body for 7 days
- highest in asian countries
- higher risk of needlestick transmission than HIV & HCV
HBV
two ways of transmitting HBV in high endemic areas vs low endemic areas
- high: vertical or horizontal transmission; kids
- low: percutaneous or sexual; adults
list some groups that should be screened for HBV
- pregnant people & kids of infected moms
- from or has parent from high endemic area
- sexual, household and family of infected
- those at risk of exposure to blood–healthcare workers, hemodialysis ppl
- gay men
- ppl w/ HIV or hep C
- elevated ALT of unknown etiology
how does age at initial infection predict likelihood of resolution of acute infxn
the younger you are when you get it, the higher the chance is that it will become chronic (90%)
in regards to Hep B serology,
if this protein is positive, you are definitely infected.. what protein is this?
HBsAg– surface antigen
in regards to Hep B serology,
if this protein is positive, you have immunity acquired either through prior infection or vaccination
anti-HBs or HBsAb– antibody to surface antigen
