| Show Learning Points most relevant to Phase 1: |
Haemochromatosis
| 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 |
Description
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 2Applied 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
- 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
- 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
- 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
- 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
- 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
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
hepatitis, transfusion-related iron overload
Uncommon
juvenile haemochromatosis, genetic haemochromatosis (transferrin receptor mutation, ferroportin mutation), hereditary sideroblastic anaemia, porphyria
juvenile haemochromatosis, genetic haemochromatosis (transferrin receptor mutation, ferroportin mutation), hereditary sideroblastic anaemia, porphyria
