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home - Liver - Metabolic Conditions - Haemochromatosis Written by Dr Sebastian Zeki
Knowledge


Recognises and appropriately investigates patients with auto-immune
liver diseases

Aware of management and complications of autoimmune liver
disease including extra-hepatic manifestations and associations
including malignant complications in PSC

Skills
Appreciates and understands that this range of liver disease is
frequently under-diagnosed and may have been inappropriately
managed

Selects appropriate immunomodulatory therapy has awareness of
side effects and may well require specialist care

Behaviours
Responds urgently to the management challenge of these severe and
often acute diseases and involves more specialist services where
required
Skills
Maintains diagnostic vigilance as uncommon metabolic liver diseases
may go unrecognised and so retains awareness of them as
diagnostic possibilities

Behaviours
Recognises the potential need to screen relatives and keeps up to
date with contemporary developments of screening protocols



Liaises with clinical genetic unit where appropriate

Manages patients with steatohepatitis clearly and always
sympathetically

Haemochromatosis

Treatment of hereditary hemochromatosis Patient selection —Possible exceptions include: 1.Limited life expectancy due to other diseases,2.Anemic/ don’t tolerate phlebotomy (eg, ferroportin mutations, aceruloplasminemia)Such patients may instead respond to iron chelation therapySchedule —Hydrate 24 hours pre-phlebotomy (hypovolaemia assoc if Hb <11 g/dL or Hct< 33 % pre- txRemoval 1U/wk usually suffices- after 1 yr removes 10-12.5g FeWomen, the elderly/low BMI/cardiovascular disease should lose 0.5 units/wkHH blood can be used for transfusionEndpoints —Weekly phlebotomies until :Hb10-12 g/dL; MCV in the low 80s;Tsats of 10- 20 %; TIBC >300 microg/dL[Ferritin] in low normal range (5 to 10 ng/mL)Maintenance —Keep the [serum ferritin] <50 ng/mL.Most needs 500 mL phlebotomy every 2-4m Rationale For Treatment Iron chelation —Consider only if cant have phle-botomy Dietary LimitationsPatients can have a normal diet but avoid supplements.There is no need for iron binding substances (eg tannates, phytates, oxalates, calcium, phosphates).Ascorbic acid may enhance the liberation of free iron and the generation of reactive oxygen species. Uncooked seafood —Avoid consumption of uncooked seafood as bacteria in this can thrive on iron (Listeria/ Yersinia(siderophage)/ Vibrio vulnificus) Indications for not doing a liver biopsy:Age <40.Homozygous C282Y mutation.Presence of indirect markers of Fe excess.Normal LFT’s. The hepatic iron content reported as micromoles of iron/g dry weight of liver.Normal = <36 micromol/g>71 micromol/g are highly suggestive of homozygous HH.This value can be divided by the subject's age in years to give the hepatic iron index (HII); a value >1.9 is consistent with, but not diagnostic of homozygous HH. HistologyPerls' Prussian blue stains for parenchymal iron loading is usefulCould consider ferriscan as an alternative way of making diagnosis. Or testing first degree relatives of a known HH, between ages 18 to 30 Ethanol —Ethanol can increase iron absorption, and some red wines contain relatively high concen-trations of iron 3 glasses of wine/ beer /day increases cirrhosis risk 9x and more likely to get HCC Follow-up Follow-up with yearly tranferrin sats and ferritin.Further tests ar indicated only if there is disease progression (eg ECHO). Phlebotomy Expect improvement in everything except - Advanced cirrhosis - Arthropathy - Hypogonadism Can sometimes get variceal regression Clinical features of haemochromatosis + elevated transferrin sats or serum ferritin C282Y and H63D genotyping C282Y homozygote C282Y-H63D compound heterozygoteH63D homozygote C282Y heterozygote H63D heterozygoteNo HFE mutations Ferritin <1000ug/LAST and ALT levels normal Ferritin >1000 ug/LAST and ALT levels elevated Reassess other causes of iron overload Liver biopsy indicates elevated iron concentration Weekly phlebotomy until serum ferritin is 50 ug/LGenetic counselingFamily studies Repeat to confirm if not fasting specimen Ferritin and hepatic enzymes Level remains 45-54% Ferritin>200ug/L premenopausal women>300 ug/L men and postmenopausal women Hepatic enzymes normal and Ferritin <200ug/L menopausal women<300ug/L men and postmenopausal women Follow annually Consider HFE gene testing 45-54% men and postmenopausal women 45% (Normal) >55% men & postmenopausal women>45% premenopausal women Screen q 1-2 y if clinical suspicion Repeat q 12-24m Age <30&Ferritin <1000ug/L&Hepatic enzymes normal&Liver enzymes normal Age >30ORFerritin <1000ug/LORHepatic enzymes abnormal&Liver enzymes abnormal HFE gene testing Positive Negative Liver biopsy & HFE gene testing Liver biopsy -ve or equivocal for haemochromatosis and HFE -ve Treat for haemochromatosis recommend family screen Treat for haemochromatosis Liver biopsy diagnostic for haemochromatosis and HFE +ve Liver biopsy equivocal for haemochromatosis and HFE +ve Treat for haemochromatosisconsider associated secondary cause Liver biopsy diagnostic for haemochromatosis and HFE negative Refer to specialist Treat for iron overloadConsider non-HFE haemochromatosis and/or secondary causeConsider specialty referral Clinical findings suggest screening is indicated Transferrin saturations Written by Dr Sebastian Zeki

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