Clinical Case Report

John's story – living with hereditary haemochromatosis


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Julia Vivien Graham1

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David R Hogg2
BSc(MedSci) MBChB DCH FRCGP , Portfolio GP *


1 Lochranza, Isle of Arran, United Kingdom

2 Arran Medical Group, Lamlash, Isle of Arran, United Kingdom

ACCEPTED: 15 February 2019

early abstract:

Iron can accumulate in the body due to several causes, resulting in Iron Overload Syndrome.  The most common cause is Hereditary Haemochromatosis (HH), a genetic disorder triggered by inactivation of the iron hormone hepcidin, which results in hyperferremia and excessive tissue iron deposition.  Other causes include repeated blood transfusion, iron-loading anaemias, and some chronic liver diseases.   Left undiagnosed, HH can cause significant damage to the liver, heart, pancreas and joints, because excess iron is toxic.  This also increases the risk of hepatocellular carcinoma especially in those with cirrhosis of the liver, with an estimate of 1 in 10 patients.  The risk is also increased in Type 2 diabetes by 2.5 – 7.1 times compared with non-diabetic patients.  Haemochromatosis is usually considered when elevated serum ferritin and transferrin saturation levels are found.  Ferritin in excess of 300ng/ml usually indicates iron overload.  Genetic testing can identify the two most common mutations in the HFE Gene; a positive result confirms the diagnosis of haemochromatosis, but there are also rare forms of the disease which are unrelated to HFE mutations.  Liver biopsy can be used to ascertain iron accumulation and histological presence of fibrosis (cirrhosis).  Assessment of the hepatic iron index is considered the “gold standard” for diagnosis of haemochromatosis.  Magnetic resonance imaging (MRI) has been used as a non-invasive alternative to accurately estimate iron deposition levels in the liver, heart, joints and pituitary gland.  Population screening is not recommended; however, family members of identified cases should be screened to determine their phenotypic or carrier potential.  Early diagnosis enables preventative measures to be commenced.
Routine treatment is by regular venesection of 500ml of whole blood per session.  An initiation phase of weekly or twice-weekly venesection is common until serum ferritin (SF) is reduced to normal.  Once SF and other markers are within normal range, regular venesection is usually scheduled 1-3 months apart, depending on the underlying cause and SF response.  Dietary iron including red meat and fortified foods such as cereals should be avoided.  Vitamin C promotes iron absorption and supplementation should be avoided, as should alcohol which can increase the risk of concomitant liver disease.
 John`s story outlines a typical journey through diagnosis, treatment and care during HH.  Subsequently John developed hepatocellular carcinoma and his treatment and palliative care is described.   
We wrote this article to give the reader an insight to this silent disorder and the value of recognising the signs and symptoms for early diagnosis and subsequent treatment.