Volume 193 - Issue 7
Family history: the neglected risk factor in disease prevention
Authors: Timothy R Bates, Elissa B Poulter, Frank M van Bockxmeer and Gerald F Watts
Med J Aust 2010; 193 (7): 429-430. || doi: 10.5694/j.1326-5377.2010.tb03984.x
Published online: 4 October 2010
Published online: 4 October 2010
To the Editor: Langlands and colleagues show that family history is poorly taken in patients presenting to an acute medical unit at a major tertiary hospital.1
However, their article and its companion editorials2,3 do not adequately stress the settings in which family history taking may be both easily achievable and most cost-effective. The nihilism that Thomas and Thompson2 convey about recording family history in the acute setting is of more concern, given that a tertiary hospital may offer the best opportunity to initiate the process of case detection for a number of heritable and lethal diseases, such as autosomal dominant familial hypercholesterolaemia (FH), the most common monogenic cause of premature coronary artery disease (CAD).
We previously demonstrated that a family history of cardiovascular disease was almost never recorded by coronary care unit medical staff at Royal Perth Hospital.4 For 509 patients aged < 60 years presenting with symptomatic CAD to the coronary care unit, we found that 70% had insufficient clinical data documented in the medical records to enable a diagnosis of FH. In a follow-up study of 103 patients with premature CAD admitted to the coronary care unit, a nurse practitioner was able to record a positive family history of premature cardiovascular disease in a primary relative for 43% of patients, of whom 95% had phenotypic FH based on a recognised clinical diagnostic tool (the Dutch Lipid Clinic Network score).5
Patients detected in this way in Western Australia are now referred to a statewide FH program run by staff from a lipid clinic.5 In this program, where detailed pedigree drawing and family tracing is performed by trained nurses, we have found a causative mutation for FH in up to 85% of patients with a clinical phenotype strongly suggestive of FH. Additionally, we find that for every index case so detected, we can additionally diagnose at least three new cases of FH in the patient’s relatives, many of whom are young. This method of case detection and subsequent treatment with cholesterol-lowering therapies is highly cost-effective and, more importantly, enables therapy to be targeted at younger patients, thereby maximising the potential for preventing CAD.
Our experience illustrates that for a lethal condition such as FH, an accurate family history recorded by a nurse can spark a cascade of action that leads to a definitive diagnosis of FH in the index patient and the subsequent detection of otherwise undiagnosed FH in the community, with significant associated cost savings.6 Hence, we propose that nursing staff can efficiently bridge this gap in medical care while we are getting our house in order by training medical staff to effectively take a family history.
References
- Langlands AR, Prentice DA, Ravine D. A retrospective audit of family history records in short-stay medical admissions. Med J Aust 2010; 192: 682-684.
- Thomas JS, Thompson CH. Omitting family history from the hospital admission [editorial]. Med J Aust 2010; 192: 676-677. 0_i1095418
- Emery JD, Walter FM, Ravine D. Family history: the neglected risk factor in disease prevention [editorial]. Med J Aust 2010; 192: 677-678. 0_i1095420
- Bates TR, Burnett JR, van Bockxmeer FM, et al. Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology. Heart Lung Circ 2008; 17: 411-413. 0_i1095422
- Watts GF, van Bockxmeer FM, Bates T, et al. A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology. Heart Lung Circ 2010; 19: 419-422. 0_i1095424
- Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168: 1-14. 0_i1095428