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Independents' Day

Coping with a patient's fear of inherited risk

John, 33, attends with his wife. He is clearly quite agitated and his wife explains he is upset after the death of his sister five days previously. It transpires she died from a probable pulmonary embolism. His summary reveals he suffered a DVT

six years ago for no apparent reason.

Dr Richard Stokell advises.

How can we help?

Like all patients, this man brings with him ideas, concerns and expectations. An open question such as 'do you understand what this means?' will probably allow you to sit back and listen to his fears and understanding of inherited risk, advice he has already received and maybe expectations of a test that can assess his level of risk.

We need to acknowledge how upset he is, with empathic comments such as 'it's been a terrible shock for you all', giving permission for him to discuss his feelings. Formal diagnoses of depression are unlikely at this stage but this discussion prepares the way for him to come back if he runs into emotional problems over the next few months.

What do we know about venous thromboembolism?

We know obesity, smoking, immobility, age, the contraceptive pill and recent surgery are all risk factors. We also know it is possible to request screening for inherited and acquired risk factors, but what do we ask for and what about when the results come back?

What can we tell the patient?

There are clearly already issues we can address. Lifestyle advice regarding obesity, prolonged car journeys and smoking cessation can start today while his wife is present to reinforce it. Thrombophilia screening can also be requested, although direct access to these tests is not available in all areas.

We can say known genetic causes can be found in 50 per cent of cases and the most common all have dominant inheritance with incomplete penetrance.

What about the next consultation?

Most of the test is normal but he is heterozygous for the prothrombin gene mutation. What are you going to tell the patient? If you are not yet used to saying 'I don't know', now is the time. As GPs an important skill is recognising the boundaries of our competence and few GPs would feel confident in deciding whether this patient is suitable for lifelong anticoagulation.

How can a haematologist help?

Interpretation of thrombophilia screening is difficult. Even where direct access is available, the haematologists keep a careful eye out for abnormal results and appropriateness of testing. Different genetic and acquired defects carry different levels of risk and a strong family history in the absence of an identified genetic cause is still significant.

Where screening has been carried out, patients require clear advice about the benefits versus risks of lifelong warfarin therapy and the Pill. You should also advise which other family members should be screened, and reducing risk around surgical procedures and childbirth.

Is the GP's role completed now?

Not really. First, because the patient trusts you and will come back to discuss the advice they have received. They may opt to accept a level of risk from the disease rather than the risks and inconvenience of anticoagulation.

And second, because anticoagulation has become part of primary care in many areas in terms of taking the blood, prescribing and computer-assisted dosing.

Are additional resources available?

Taking on additional roles is a complex issue for GPs. To accept them we have to have the competence to perform the role as well as it has been in the past. Also, moving a procedure into primary care has to have some advantage for the patient.

Anticoagulation satisfies both of the above but it needs to be paid for and we need to be aware we are a finite resource. Who will take the blood, how much they are paid and how much the practice gets paid for this service all need to be looked at. However, you may feel it belongs in primary care as part of our holistic approach to patient management.

Key points

 · The GP has a central role in diagnosis and management of patients at risk of venous thromboembolism

 · Recognising the boundaries of your competence is an important skill

 · Decide what falls within primary and what within secondary care

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