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home - Liver - Metabolic Conditions - Clinical Presentation 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

Clinical Presentation Haemochromatosis

Susceptibilities to specific infections:Listeria- in cirrhotic haemochromatosis + Transfusional Fe overload in dialysis patients.Bacterial virulence- increased by a high serum [Fe].Yersinia enterocolitica -HH patients are also at risk for this.Vibrio fulnigatus - this requires iron-septicaemia can occur if ingest uncooked seafoods. DIABETES Liver disease presentations:Hepatomegaly.Elevated liver enzymes.Cirrhosis.Hepatocellular carcinoma. Clinical manifestations of hereditary hemochromatosis General population —10% are heterozgotes.C282Y is the predominant mutation.The retained iron in HH is primarily deposited in parenchymal cells, with reticuloendothelial cell accumu-lation occurring very late in the disease.This is in contrast to transfusional iron overload in which iron deposition occurs first in the reticuloendothelial cells and then in parenchymal cells.Average duration of 10 years prior to symptoms. Diabetes mellitus Is present in 50 % of sympto-matic HH.It is due to pancreatic iron accumulation.Patients with HH and DM who require insulin may note a fall in insulin requirements following therapeutic iron removal.The prevalence of HH in diabet-ics is 1.3 %. Arthropathy It is associated with all forms calcium pyrophosphate crystal deposition disease (ie, pseudog-out, chondrocalcinosis, and chronic arthropathy).In contrast to many other mani-festations of HH, symptoms of arthropathy do not generally respond to iron removal. Heart disease —Dilated cardiomyopathy- can be the presenting manifestation in up to 15 % of patients with HH.Diagnose wwith a cardiovascular MRI (detects iron) or endomyo-cardial biopsy.Treat with phlebotomy or chela-tion therapy associated with reversal of the LV dysfunction. Hypogonadism —Excess iron deposition in pituitary cells, leads to reduced serum levels of a number of trophic hormones.Secondary hypogonadism is the most common endocrine abnormality in HH, causing decreased libido and impotence in men.No HH women had loss of libido or natural menopause before age 45. Hypothyroidism Occurs in around 10% of HH. Liver function abnormalities —75 % Weakness and lethargy —74 % Skin hyperpigmentation —70 % (reflects a combination of iron deposition and melanin.)Diabetes mellitus —48 % Arthralgia —44 % Impotence in males —45 % Electrocardiographic abnormalities —31 %. Risk greatest in men.Not increased in FDR’s Manifestations in heterozygotes —Uncommon Written by Dr Sebastian Zeki

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