Treat To Target Familial Hypercholesterolemia -A prospective study on effects from maximal high intensive treatment of FH patients during eight years

Background and aims: During the last decades there has been a formidable reduction in the mortality from cardiovascular diseases (CVD) in the western world. Despite of this, CVD remains the leading cause of death. The underlying factor of nearly all CVD events is atherosclerosis. Familial Hypercholesterolemia (FH) is characterized by elevations of LDL cholesterol, and a 20-fold higher lifetime risk of early CVD when compared to the general population. Although FH is a relatively rare disease, it is of profound medical interest by serving as a model disease for atherosclerosis. Many FH patients will not reach the LDL treatment target even on high intensity medical treatment, hence modifiable risk factors becomes of extra importance. The aim of this study is to describe the effect of a maximally aggressive lipid lowering treatment and lifestyle intervention in a real life setting, monitored over eight years. Subjects and method: In 2006 357 adult FH patients were recruited at the Lipid clinic during the routine consultations for visit 1 (V1) in the TTTFH-study. Data were collected through an ordinary medical examination, by the patients records, and by three questionnaires and schemes dealing with medical data, lifestyle, opinions concerning the treatment. Visit 2 (V2) was conducted by the same protocol median one year after V1with 332 patients who further participated. During the fall of 2014, visit 3 (V3) was carried out with a smaller group of 64 patients from the V2 population. We have compared the data collected at all three visits to examine the development for the group over time. Further we compared the patients who have developed CVD to those who have not, to describe what characterizes these patients. Results: All blood parameters have improved over these eight years with the exception of triglycerides, fasting glucose and HbA1c. The number of patients who reached their LDL treatment target was significantly increased. Lifestyle variables, BMI, weight and waist circumference have all stayed constant or improved with increasing age. These FH patients were largely treated with high intensity statin therapy, where a considerable fraction also received dual or triple lipid medication. Side effects might be a problem for as many as 24 (37.5 %) patients. The comorbidities hypertension and diabetes was affecting 22 (34.4 %) and 6 (9.4 %) respectively. Low cholesterol has always been important to the patients, but on V3 there was a significant increase in how important the absence of side effects was considered to be. Comparing the CVD group against the non-CVD group, we found a significant difference VI in the risk factors age, male gender, years of smoking, waist circumference, hypertension and diabetes, as well as in fasting glucose and HbA1c. They were also experiencing more side effects than the non-CVD group. Conclusion: Under a maximally favorable condition customized to each single patient through the treatment at the Lipid clinic, the patients have improved or maintained nearly all of the variables they are measured by; many of these in contrast to the general population, and hence most likely have decreased their CVD risk considerably. Still, as the larger part does not reach the treatment target due to either considerable side effects or that they already receive full doses but have a lack of adequate responsiveness to the medication, and the search for other alternatives is of essence. When further looking into what characterized the individuals that develop CVD in our study population, we find a connection between classical risk factors and the occurrence of CVD. Those who lead a heathier lifestyle have less comorbidity and both respond better to medication and have lower severity of side effects