Associations between the characteristics of general practitioners and their patients with type 2 diabetes O besity is an important cardiovascular risk factor in type 2 diabetes (1). Physician characteristics such as age and sex are related to counseling for overweight (2). Other physician characteristics may also be related. Patients indicated greater confidence in nonobese versus obese physicians. Whether this translates into increased success in obesity management is unknown (3). We aimed to study associations between the weight of general practitioners and their type 2 diabetic patients.A postal survey was performed among 36 general practitioners participating in a shared-care diabetes project in 2000. It contained questions about the general practitioners' age, sex, weight, height, smoking behavior, work experience, practice population size, and opinion regarding how much influence they have on a patient's weight and smoking cessation. The project's target population consisted of type 2 diabetic patients who were exclusively treated in primary care. Patients who were cotreated in secondary care or who were terminally ill or had dementia were excluded. Participating patients (n ϭ 1,441) represented 87% of the target population. Data on patient age, sex, diabetes duration, BMI, and smoking were collected by nurses. We performed a regression analysis with the mean BMI of patients as the dependent variable and the above variables as predictors.The survey response rate was 100%. Most general practitioners were nonsmoking (94%) men (83%) with a mean (ϮSD) age of 51.1 Ϯ 7.0 years and work experience of 18.1 Ϯ 8.9 years. The general practitioners' mean BMI was 24.4 Ϯ 3.5 kg/m 2 (BMI Ͻ25 in 72%). For patients (per general practitioner), mean age was 68.2 Ϯ 2.9 years, diabetes duration 7.2 Ϯ 1.3 years, and BMI 29.3 Ϯ 0.85 kg/m 2 ; 44 Ϯ 9% were men. The mean BMI of patients showed the strongest correlation with the BMI of general practitioners: Ϫ0.40 (partial correlation) and unstandardized coefficient B of Ϫ1.05 (95% CI Ϫ0.197 to Ϫ0.013). The optimal model (P ϭ 0.07) had a multiple correlation (R) of 0.56, and explained variance (R 2 ) was 31% (adjusted 17%). We found a negative correlation between the BMI of type 2 diabetic patients and their general practitioners. Obese doctors had lean patients. Our study is limited by the cross-sectional design; associations were found, not causal relations.Hash et al. (3) showed that patients indicated greater confidence in nonobese physicians. However, we found no translation into increased success in obesity management. On the contrary, patients of nonobese general practitioners had a higher BMI compared with patients of obese general practitioners. A discernable negative impact of patient weight on physician behavior was shown earlier (4). Could it be that nonobese general practitioners lack motivation to treat overweight patients? Is it time for general practitioners to search our own hearts? • LIELITH J. UBINK-VELTMAAT, MD Sudden sensorineural hearing loss (SSNHL) is define...

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Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time can lead to cardiovascular disease (CVD). Most cases are caused by autosomal dominant mutations in LDLR, which encodes the LDL receptor, although mutations in other genes coding for proteins involved in cholesterol metabolism or LDLR function and processing, such as APOB and PCSK9, can also be causative, although less frequently. Several sets of diagnostic criteria for familial hypercholesterolaemia are available; common diagnostic features are an elevated LDL cholesterol level and a family history of hypercholesterolaemia or (premature) CVD. DNA-based methods to identify the underlying genetic defect are desirable but not essential for diagnosis. Cascade screening can contribute to early diagnosis of the disease in family members of an affected individual, which is crucial because familial hypercholesterolaemia can be asymptomatic for decades. Clinical severity depends on the nature of the gene that harbours the causative mutation, among other factors, and is further modulated by the type of mutation. Lifelong LDL cholesterol-lowering treatment substantially improves CVD-free survival and longevity. Statins are the first-line therapy, but additional drugs, such as ezetimibe, bile acid sequestrants, PCSK9 inhibitors and other emerging therapies, are often required.

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.

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This trial tests the hypothesis that confirming a clinical diagnosis of familial hypercholesterolemia (FH) by finding a genetic mutation reduces patients' perceptions of control over the disease and adherence to risk-reducing behaviors. Three hundred forty-one families, comprising 341 hypercholesterolemia probands and 128 adult relatives, were randomized to one of two groups: (a) routine clinical diagnosis; (b) routine clinical diagnosis plus genetic testing (mutation searching in probands and direct gene testing in relatives). The main outcome measures were perceptions of control over hypercholesterolemia, adherence to cholesterol-lowering medication, diet, physical activity, and smoking. There was no support for the main hypothesis: finding a mutation had no impact on perceived control or adherence to risk-reducing behavior (all P-values > 0.10). While all groups believed that lowering cholesterol was an effective way of reducing the risk of a heart attack, participants in whom a mutation was found believed less strongly in the efficacy of diet in reducing their cholesterol level (P = 0.02 at 6 months) and showed a trend in believing more strongly in the efficacy of cholesterol-lowering medication (P = 0.06 at 6 months). In conclusion, finding a mutation to confirm a clinical diagnosis of FH in a previously aware population does not reduce perceptions of control or adherence to risk-reducing behaviors. The pattern of findings leads to the new hypothesis that genetic testing does not affect the extent to which people feel they have control over a condition, but does affect their perceptions of how control is most effectively achieved. Further work is needed to determine whether similar results will be obtained in populations with little previous awareness of their risks.

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HNF-4alpha mutations are common when no HNF-1alpha mutation is found in strictly defined MODY families. The HNF-4alpha clinical phenotype and beta cell dysfunction are similar to HNF-1alpha MODY and are associated with reduced apolipoprotein A2 levels. We suggest that sequencing of HNF-4alpha should be performed in patients with clinical characteristics of HNF-1alpha MODY in whom mutations in HNF-1alpha are not found.