Return to Scenario ListShow Learning Points most relevant to Phase 1:


Clinical Discipline(s)/Organ System(s)
Medical Genetics, Digestive System, Gastroenterology & Hepatology, General Practice, Haematology, Clinical Biochemistry
Progress Test Topic(s)
Blood and lymph, Digestive
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.
Progress Test-Type Questions:   Question 1 | Question 2
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
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
juvenile haemochromatosis, genetic haemochromatosis (transferrin receptor mutation, ferroportin mutation), hereditary sideroblastic anaemia, porphyria
Related Scenarios
[Chronic liver disease], [Obesity]