Diagnosis And Management Of Haemochromatosis
A Rural and Remote Medical Practitioner who can confidently diagnose and manage haemochromatosis in their community has the opportunity to minimise morbidity and mortality not only for that particular patient, but for the relatives of that patient as well.
Haemochromatosis is a heterogeneous, multi-organ condition of iron overload with variable symptoms and signs that can present a clinical challenge to the Medical Practitioner as it can masquerade as many other conditions.
However, if diagnosed early and managed with venesections at appropriate intervals and referrals to specialists in certain circumstances, then lives can be saved. The challenge is both to improve under-diagnosis of haemochromatosis and to avoid misdiagnosing conditions causing elevated serum ferritin which do not actually reflect an underlying iron overload disorder.
The course was written by Dr Katie Goot, a GP in rural Queensland and a recent fellow of ACRRM (December 2012). In her training towards FACRRM which included Advanced Specialist Training in Population Health, her background in undergraduate genetics and molecular biology as well as her interest in preventative medicine led her to study genetic conditions that rural GPs might diagnose and manage.
- What is haemochromatosis?
- Who to suspect has haemochromatosis
- Iron studies
- HFE gene test
- Family history
- Indications for specialist referral
- Diet and alcohol advice