Last updated on 23 Jan 2013 at 1:02 PM (MG01)

Haemochromatosis
A 54 year old NZ European man saw his GP for an insurance assessment. He was incidentally noted to have a very high ferritin level of 1200 ug/L and an increased transferrin saturation of 62%. His past medical history includes central obesity and type 2 diabetes mellitus.

 

Applied Science for Medicine
Iron absorption, transportation and storage; role of hepcidin
Common genetic mutations in haemochromatosis
Inheritance of single gene and multifactorial genetic disorders
Interpret a pedigree from a family with a genetic disorder

Clinical and Communication Skills
History from a patient, or family, with suspected hereditary disease
Examine a patient with high ferritin; recognise signs of end-organ damage from iron overload; identify secondary causes of hyperferritinaemia
Interpret iron studies
Differential diagnosis for hyperferritinaemia, including infection, inflammation, and liver disorders
Management of haemochromatosis
Complications and prognosis of haemochromatosis
Indications for, and potential repercussions of genetic testing

Personal and Professional Skills
Provide basic genetic counselling

Hauora Māori
Awareness of the differences in incidence of genetic conditions between different ethnic groups
Awareness of unique mutations within the Māori population (and other minority ethnic groups)
Awareness of the different cultural perception towards hereditary disease in Māori

Population Health
Epidemiology of genetic haemochromatosis
Epidemiology of other common hereditary diseases

 

Conditions to be considered relating to this scenario

Common

genetic haemochromatosis (Cys282Tyr), chronic inflammation, infection, liver disease, alcohol abuse/dependence, metabolic syndrome, non-alcoholic fatty liver disease

Less common but 'important not to miss'

hepatitis, transfusion-related iron overload

Uncommon

juvenile haemochromatosis, genetic haemochromatosis (transferrin receptor mutation, ferroportin mutation), hereditary sideroblastic anaemia, porphyria