[Diagnosis and Treatment of Familial Hypercholesterolemia]. / Familiäre Hypercholesterinämie ­ Diagnose und Therapie.

Diagnosis and Treatment of Familial Hypercholesterolemia Abstract. Familial hypercholesterolemia secondary to heterozygous mutations in the LDL receptor, Apolipoprotein B or PCSK9 gene is characterized by 2- to 3-fold elevated LDL cholesterol levels, premature atherosclerosis and extravascular cholesterol deposits (tendon xanthomata, corneal arcus). The same phenotype may occur if a person carries several LDL cholesterol rising polymorphisms (polygenic FH). Primary prevention with statins has been shown to dramatically reduce the cardiovascular burden in patients with the disease. However, it is estimated that less than 10 % of affected subjects in Switzerland have received the diagnosis, and undertreatment is frequent. Thus, clinical cardiovascular events are still the first manifestation of the disease in many cases. A correct diagnosis in index patients and cascade screening of families are mandatory to identify and treat patients before they suffer the sequelae of untreated severe hypercholesterolemia. In patients with clinical cardiovascular disease combination lipid lowering treatment with potent statins, ezetimibe and the newly available PCSK9 inhibitors will successfully lower LDL cholesterol to normal or even target levels.

[Harmless bruises? Coagulopathy despite normal INR]. / Harmlose blaue Flecken? Gerinnungsstörung trotz normaler INR.

Acquired hemophilia is a rare but severe bleeding disorder caused by autoantibodies mostly against factor VIII. Clinically it mostly presents with soft tissue and muscular bleeding. Diagnostics include a prolonged aPTT, antibodies against FVIII and a reduced FVIII titre. Acute bleeding is controlled with recombinant factor VIIa (NovoSeven(®)) or activated prothrombin complex (FEIBA(®)), as both bypass FVIII in the coagulation pathway. Treatment to reduce the inhibitor consists of immunosuppression with corticosteroids, cyclophosphamid and can be extended with rituximab.

Incomplete reporting of baseline characteristics in clinical trials: an analysis of randomized controlled trials and systematic reviews involving patients with chronic low back pain.

OBJECTIVE: The aim of this study was to evaluate the reporting of relevant prognostic information in a sample of randomized controlled trials (RCTs) that investigated treatments for patients with chronic low back pain (LBP). We also analysed how researchers conducting the meta-analyses and systematic reviews addressed the reporting of relevant prognostic information in RCTs. METHODS: We searched the Cochrane Database to identify systematic reviews that investigated non-surgical treatments for patients with chronic LBP. The reported prognostic information was then extracted from the RCTs included in the reviews. We used a purpose-defined score to assess the quantity of information reported in the RCTs. We also determined how the authors of systematic reviews addressed the question of comparability of patient populations between RCTs. RESULTS: Six systematic reviews met our inclusion criteria, and we analysed 84 RCTs. Based on the scores, the reporting of important prognostic variables was incomplete in almost half of the 84 RCTs. Information regarding patients' general health, social support, and work-related conditions was rarely reported. Almost half of the studies included in one of the meta-analyses provided insufficient information that did not allow us to determine whether patients in the primary trials were comparable. CONCLUSIONS: Missing prognostic information potentially threatens the external validity (i.e. the generalizability or applicability) not only of primary studies but also of systematic reviews that investigate treatments for LBP. A detailed description of baseline patient characteristics that includes prognostic information is needed in all RCTs to ensure that clinicians can determine the applicability of the study or review results to their patients.