1.Primary biliary cirrhosis(PBC)
Prevalence- 90% female, 40~60 yrs
Presentation- Jaundice, pruritus, xanthelasma, cognitive dysfunction, steatorrhea, autoimmune disorder
Lab- Cholestatic pattern, Ig M, cholesterol, AMA, Alk-p
Treatment- UDCA(13~15 mg/kg/day)(bile acid move from hepatocyte into bile canaliculus), cholestyramine(2~4 hrs after UDCA)(for pruritus), colchicine, MTX, budesonide
*Not used prednisolone!!
2.Primary sclerosing cholangitis(PSC)
Gene- HLA-B8, HLA-DR3, HLA-DR4
Prevalence– 20~50 y/o male
Association- UC, p-ANCA
Histology- Onion skin
Management- Colonscopy for IBD survey, UDCA(20~30mg/kg/day)
Complication- Cholangiocarcinoma, cholangitis
3.Wilson disease
Gene- AR chromosome 13
Presentation- Jaundice, Kayser-Fleischer ring, Neurological form
Lab- Serum Cu↓, Serum free Cu> 25 ug/dL, 24 hrs urine Cu> 100ug, Ceruloplasmin< 20 mg/dL, liver copper>250 mg/g dry weight liver
Treatment- D-penicillamine(1.5g/day)(bone marrow suppression, liver, MG), Zinc 50mg tid
4.Hemachromatosis
Gene- AR chromosome 6
Presentation- Pancreas damage(DM), melanin content over skin, anterior pituitary gland, liver cirrhosis, cardiomyopathy, arthritis
Diagnosis- Serum iron>220 ug/dL, Transferrin saturation(male>55%, female>45%), serum ferritin> 500x, HFE gene mutation
Hepatic Iron index- >1.9→ Hereditary hemochromatosis
Treatment- Phlebotomy(500ml) weekly, avoid vitamin C, deferoxamine(20~40mg/kg/day)
