Clinical decision support for familial hypercholesterolemia (CDS-FH): Rationale and design of a cluster randomized trial in primary care.

BACKGROUND: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder with high risk of premature atherosclerotic cardiovascular disease and death. Clinical decision support (CDS) systems have the potential to aid in the identification and management of patients with FH. Prior studies using computer-based systems to screen patients for FH have shown promising results, but there has been no randomized controlled trial conducted. The aim of the current cluster randomized study is to evaluate if a CDS can increase the identification of FH. METHODS: We have developed a CDS integrated in the electronic health records that will be activated in patients with elevated cholesterol levels (total cholesterol >8 mmol/L or low-density lipoprotein-cholesterol >5.5 mmol/L, adjusted for age, ongoing lipid lowering therapy and presence of premature coronary artery disease) at increased risk for FH. When activated, the CDS will urge the physician to send an automatically generated referral to the local lipid clinic for further evaluation. To evaluate the effects of the CDS, all primary care clinics will be cluster randomized 1:1 to either CDS intervention or standard care in a Swedish region with almost 500,000 inhabitants. The primary endpoint will be the number of patients diagnosed with FH at 30 months. Resource use and long-term health consequences will be estimated to assess the cost-effectiveness of the intervention. CONCLUSION: Despite increasing awareness of FH, the condition remains underdiagnosed and undertreated. The present study will investigate whether a CDS can increase the number of patients being diagnosed with FH.

[Sweden introduces a new specific ICD-10 code for the disease familial hypercholesterolemia]. / E78.0A ­ en unik, ny ICD-10-kod för familjär hyperkolesterolemi - Rätt använd kan koden bli ett effektivt verktyg.

At the turn of the year 2018/19, a new ICD-10 code (E78.0A) will be introduced in Sweden for the hereditary blood lipid disorder familial hypercholesterolemia (FH). Patients with FH have a significantly increased risk of developing atherosclerotic disease, such as myocardial infarction before the age of 50. However, early diagnosis and start of treatment of FH can ameliorate the disease's negative long term effects. The Swedish National Board of Health and Welfare gave in its guidelines from 2015 a high priority to the work of identifying and diagnosing individuals with FH in the general population. The introduction of the ICD-10 code E78.0A for FH may, when properly used, be an effective tool in this work.

Magnetic resonance imaging of the peritoneal cavity among peritoneal dialysis patients, using the dialysate as "contrast medium".

The objectives of this study were to evaluate whether adequate observation of abdominal pathologic features related to peritoneal dialysis (PD) was possible with magnetic resonance imaging (MRI) under routine conditions, i.e., against the background of the dialysate and without contrast medium. For 16 male and seven female patients (mean age, 51.8 +/- 15.0 yr; mean duration of PD, 324 +/- 542 d), 25 peritoneal MRI studies were performed with the intraperitoneal dialysate as usual. Indications were symptoms or combinations of symptoms, such as leakage or abdominal wall edema (n = 3), bloody dialysate (n = 4), suspected herniation (n = 1), suspected ultrafiltration failure (n = 2), and abdominal pain (n = 5), or routine assessment after initiation of PD (n = 12). The MRI protocol, which was performed with a 1.0-T scanner, consisted of breath-hold, coronal and transverse, T2-weighted, half-Fourier single-shot turbo spin-echo sequences, using a standard body-array coil. MRI studies were well tolerated and successfully completed for all except two patients. Results indicated a leak along the catheter (n = 1), a leak in an umbilical hernia (n = 1), suspected leakage (n = 1), hernias (n = 5, in three patients), intraperitoneal adhesions (n = 5, in four patients), a ruptured ovarian cyst (n = 1), and pleural effusions (n = 4). Pathologic findings unrelated to PD or located extra-abdominally were observed in 19 of the 25 studies. The catheter tip position was easily identified for all patients. In conclusion, this first report on peritoneal MRI using only dialysate as the "contrast medium" indicates that MRI permits detailed observation of all relevant, PD-related, abdominal pathologic features against the dialysate background, thus avoiding system contamination (and thus the risk of peritonitis).