Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world,multi-center,cohort study

BackgroundThere is a lack of large-scale data on the clinical and genotype characteristics of homozygous familial hypercholesterolemia (HoFH) patients in Asia.ObjectiveTo define the characteristics of phenotypic and genetic HoFH probands from mainland China.MethodsWe collected data from patients with suspected HoFH from ten clinical hospitals across mainland China from 2003 to 2019. Clinical data and DNA testing were obtained in all patients. The Kaplan-Meier method was used to generate survival curves, and the groups were compared with the log-rank test.ResultsA total of 108 unrelated probands with suspected HoFH (mean age 14.9 years) were included. The three most common variants were W483X (c.1448 G>A), A627T (c.1879 G>A), H583Y (c.1747 C>T). The majority (64.8%) were compound heterozygotes (n = 70), 23 (21.3%) were true HoFH patients. True HoFH showed higher LDL-C levels compared to compound HoFH (16.8±3.6 mmol/L vs. 15.0±3.1 mmol/L, P = 0.022). During follow-up, only 21.2% patients exhibited an LDL-C reduction of more than 50%. Kaplan-Meier analysis showed that the true HoFH probands had significantly worse survival rates compared to other genotype probands (13-year survival; 20.3% vs. 76.7%, respectively; P = 0.016). In addition, true HoFH shows that 2.8-fold (P = 0.022) increase any death and 3.0-fold (P = 0.023) increase cardiovascular death risk in relative to other FH.ConclusionsThis report shows that HoFH has devastating consequences, and that patients are often only diagnosed after they have been exposed to severely elevated LDL-C for years. Systematic screening and early intensive treatment are an absolute requirement for these young individuals with HoFH.     

Preferred Role in Health Care Decision Making Over Time in Patients With Heart Failure: My Decision or My Doctor's Decision?

BackgroundUnderstanding patients’ preferred role in decision making can improve patient-centered care. This study aimed to determine change and the predictors of change in preferred decision-making roles over time in patients with heart failure.Methods and ResultsDuring the CASA (Collaborative Care to Alleviate Symptoms and Adjust to Illness) trial, patients’ preferred roles in decision making were measured using the Control Preferences Scale (range 1–5; higher = less active; n = 312) at 4 timepoints over 1 year. The effect of the CASA intervention on preferred decision-making roles was tested using generalized linear mixed models. Whether preferences changed over time in the whole population was determined using linear regression. Demographic and health-related factors were examined as predictors of change using multiple linear regression. At baseline, most participants preferred active (score 1–2, 37.2%) or collaborative (score 3, 44.9%) roles. The CASA intervention did not influence preferred decision-making roles (P > 0.1). Preferences significantly changed over 1 year (P < 0.01), becoming more active (82.1%, 84.2%, 89.0%, 90.1% active/collaborative at each timepoint). Among all models and covariates, there were no significant predictors of change (P > 0.1).ConclusionsPatients’ preferred roles in decision making change over time, but changes are not well predicted. Clinicians should frequently and directly communicate with patients about their preferred decision-making roles.     

Pseudohyperkalemia: Three Cases and a Review of Literature

Hyperkalemia is a potentially fatal complication requiring prompt diagnosis and management. However, pseudohyperkalemia, defined as an artificial rise in serum potassium (S_k), is also an important diagnosis because management differs. Pseudohyperkalemia can result from multiple factors, including excessive potassium leakage from cells of the forearm during blood collection due to release from exercising the muscle during fist clenching, while washout is prevented by tourniquet application, hemolysis, problems with sample transport, preanalysis or contamination, cell damage and metabolic changes, familial conditions that permit excessive potassium ion (K⁺) leak from erythrocytes after blood sampling, and leukocytosis or thrombocytosis. In this review, we will discuss the major causes of pseudohyperkalemia, how to avoid certain diagnostic pitfalls, and comment on the clinical importance of recognizing these false readings. We will review three clinical cases seen in our nephrology and hypertension clinic that illustrate some of these problems.     

The Predictors of Post-Procedural Arm Pain after Transradial Approach in 1706 Patients Underwent Transradial Catheterization

BackgroundAlthough patients prefer radial over femoral approach, some develop post-procedural arm pain after transradial procedures. This complication has been poorly defined in prior studies. We evaluated the extent of non-ischemic arm pain after transradial arterial access and identify variables that may be associated with this complication.MethodsWe performed a retrospective analysis of a 1706 patient database on patients who underwent transradial catheterization at three experienced radial centers. Arm pain was assessed by adult visual analogue scale (score > 4) defined as moderate to severe pain at the accessed forearm not related to hand ischemia and was evaluated at one day after the procedure. Logistic regression was used to identify the predictors of post-procedural arm pain.ResultsThe overall incidence of post-procedural arm pain one day after a transradial procedure was 4.5%. Covariate associated with post-procedural arm pain were hemostasis compression >4 h (odds ratio (OR) = 29.47, p < 0.001), radial artery occlusion by Doppler evaluation (OR = 3.35, p < 0.001), radial artery diameter < 2.8 mm (OR = 2.66, p = 0.01), and multiple puncture attempts (OR = 2.31, p = 0.03).ConclusionApproximately 1 in 20 patients undergoing transradial procedure have post-procedural arm pain one day after the procedure. Predictors of this complication relate to radial hemostasis, radial artery occlusion, radial artery diameter, and number of access attempts.     

Relational processes in heart failure care transitions: A data-driven case report

BackgroundEffective patient care transitions require consideration of social and clinical context, yet how these factors and relational processes in care coordination relate remains poorly described. This case report aims to describe provider networks and the clinical care and social context involved during longitudinal care transitions across settings.CaseWe examined the utilization and provider networks of an oldest old woman with heart failure (HF) before and after her first hospitalization for HF. She used primary care for care management and had insurance, strong caregiver support, and comprehensive discharge planning; however, after the hospitalization, Mrs. A's ambulatory provider networks were more diverse yet sparser and less strongly connected.ConclusionsTurbulence in care transition can result from sources other than transitioning between settings. The data-driven case report approach using electronic health records uncovered relational processes important for care coordination and may inform patient-centered approaches to improve care for patients with HF.     

Diagnosis and Management of Vertebral Compression Fracture

Vertebral compression fractures are the most common complication of osteoporosis, with 700,000 cases reported every year in the United States. Vertebral compression fractures typically present with abrupt-onset low back pain with or without a history of trauma, although more than two-thirds are detected incidentally. Diagnosis is confirmed using plain radiographs, while computed tomography and magnetic resonance imaging may be required to evaluate for a malignant cause or if there are neurological deficits on examination. Magnetic resonance imaging is also the modality of choice to determine if the fracture is acute vs chronic in nature. Patients can be managed with a combination of nonsurgical modalities including medications, bracing, and physical therapy, although when indicated, kyphoplasty or vertebroplasty may be considered to provide symptom relief.