GPs have key role in detecting familial hypercholesterolaemia

Currently the vast majority of people with familial hypercholesterolaemia (FH) in the U.K. remain undiagnosed, probably 85% of the predicted 120,000 cases. FH is a common inherited disorder of lipid metabolism causing high levels of LDL cholesterol which leads to early CHD. It has an autosomal dominant pattern of inheritance so siblings and children of a patient with FH will have a 50% chance of inheriting the condition. FH is present in the heterozygous form in 1 in 500 of the population. The homozygous form is very rare, affecting 1 in 1,000,000. Around half of men with FH, if untreated, will have developed clinically evident CHD by the age of 55 years, and approximately one third of women by the age of 60. A significant reduction in the mortality and morbidity of the disease can be achieved through changes in lifestyle and the use of statins to lower cholesterol. NICE recommends that clinical management of FH patients should primarily be carried out in lipid clinics. When cascade testing from lipid clinics is underway, GPs will be approached by relatives who have been identified as being at 50% risk of having FH, because they have an affected first-degree relative with the disorder. They will then need to take a blood sample for cholesterol measurement, and often will also be asked to provide a sample for DNA testing. A preliminary investigation in the surgery of a family member would involve a full lipid profile to calculate LDL cholesterol. If this is not elevated in an adult, cut-off value 4.9 mmol/L, FH is highly unlikely. Even if an FH patient is young, currently does not have CHD and may have no other CHD risk factors, the Framingham risk charts should not be used. These individuals are at increased CHD risk which warrants treatment with statins. The vascular health check screening programme recommends that where a total cholesterol of > 7.5 mmol/L is found FH should be considered.     

GPs have key role in managing motor neurone disease

Motor neurone disease (MND) is a rapidly progressive neurodegenerative condition. It affects people of all ages, but is more common with increasing age (especially over 50 years) and men are affected twice as often as women. The causes remain unknown, although around 5% of cases have a genetic basis. Survival is usually only three to five years from diagnosis. MND affects both upper and lower motor neurones, with variable contributions. The nerve involvement in MND usually has a focal onset, is asymmetrical, but tends to spread to adjacent regions of the body. If the affected region is in the legs, a common presenting feature is tripping, falls or foot drop. If it is in the arms there may be difficulty with fine tasks such as fastening buttons, or raising an arm, and if the cranial nerves are affected there may be slurring of speech, or difficulty swallowing. Key to the diagnosis is evidence of progression, and this may lead to some delay in considering and also confirming the diagnosis. When examining the patient, evidence of more widespread neuromuscular involvement should be looked for. In a patient with foot drop, and fasciculation of the tongue, MND would be a likely diagnosis. Upper motor neurone involvement may be readily determined by examining the reflexes. Brisk reflexes, in the arms, legs or jaw, in the context of features of lower motor neurone denervation are highly suggestive of MND. Suspicion of MND should lead to referral for a neurology opinion. The most useful investigation is likely to be EMG with nerve conduction studies, and probably MRI scan of relevant areas. Blood tests are arranged to screen for any other causative condition. Riluzole is a disease modifying drug licensed to extend the life of patients with MND. There is no treatment that will reverse, or halt, progression of the disease.     

How to help patients stop smoking

With the introduction of nicotine gum as a pharmacologic substitute source of nicotine, the clinician now has a tangible tool to aid the addicted cigarette smoker who wants to quit. However, without a physician's support and guidance, few patients achieve long-term abstinence with gum therapy alone. In this article, Drs Werther and Dayal describe a smoking cessation program that is easily implemented in a primary care practice and that can serve as a basic structure within which to incorporate individual modifications.     

GPs have central role in managing IBD

Ulcerative colitis and Crohn's disease are extremely variable in their presentation and course, and treatment can be difficult. It is important that GPs have a high index of suspicion of IBD and initiate appropriate treatment for patients undergoing relapse of the disease. GPs also have a vital role in the monitoring of patients, often in collaboration with gastroenterologists, particularly for those patients on immunosuppressant therapy.     

How to help your patients stop smoking

Family physicians can effectively help their patients stop smoking by using brief intervention and simple office organizational procedures. Intervention involves asking all patients about smoking, advising smokers to stop, assisting with self-help materials, establishing a date for quitting, possibly prescribing nicotine gum and, finally, arranging for follow-up visits. Office procedures include selecting an office coordinator, ensuring a smoke-free office, establishing a mechanism to identify and monitor patients who smoke, and involving the office staff in intervention and follow-up. With this protocol, intervention is possible at every office visit.     

Helping patients with Crohn's disease to stop smoking

Evidence shows that Crohn's disease in cigarette smokers runs a more aggressive course. Two nurses worked in collaboration to identify smokers with Crohn's disease in order to offer pharmacological and psychological support in quitting the habit. This paper provides the results of a pilot study on a smoking-cessation course targeted specifically at such patients.     

Development and evaluation of a training course for practice nurses: helping people to stop smoking

This paper describes a 2-day training course for practice nurses in advice-giving to smokers. The course incorporated information on the epidemiology, physiology and psychology of smoking and a strategy for giving advice based upon the health-beliefs model. The course was systematically evaluated on measures of knowledge about health and smoking and on confidence in various advice-giving activities. The results showed that the nurses gained significantly in both knowledge and confidence following the course. The prospect of further training courses for practice nurses in other areas of health promotion is discussed.     

Helping people to stop smoking: the role of treatment products

Advising patients to stop smoking is an important intervention that will have an effect on their immediate and future health. Nurses need to be familiar with the numerous products that are available to assist smokers to give up cigarettes. Jennifer Percival describes how nicotine replacement therapy and bupropion can help smokers achieve success.     

Helping people to stop smoking: a study of the nurse''s role

Sixteen trained nurses from various clinical backgrounds participated in a project designed to describe the process and assess the outcome of their attempts to help a range of patients and clients to stop smoking. A case-study approach was employed and the nurses initiated 68 health education interventions related to smoking cessation. All interventions were tape-recorded and data on patients' and clients' characteristics, smoking history, health beliefs and motivation to give up smoking were also collected. Forty-two patients were followed up 1 year post-intervention. Data collected at this time revealed that 17% had successfully given up smoking, while a further 12% had substantially reduced their cigarette consumption. These findings compare very favourably with those of previous studies in which general practitioners have attempted to help patients stop smoking. The results of the research reported here therefore suggest that nurses have enormous potential for fulfilling a highly effective health education function.