A resilient type of familial hypercholesterolaemia: case-control follow-up of genetically characterized older patients in the SAFEHEART cohort.

AIMS: Knowledge of the features of patients with familial hypercholesterolaemia (FH) who are protected from atherosclerotic cardiovascular disease (ASCVD) is important for the clinical and prognostic care of this apparently high-risk condition. Our aim was to investigate the determinant and characteristics of patients with FH who are protected from ASCVD and have normal life expectancy, so-called 'resilient' FH (R-FH). METHODS AND RESULTS: Spanish Familial Hypercholesterolaemia cohort study (SAFEHEART) is an open, multicentre, nation-wide, long-term prospective cohort study in genetically defined patients with heterozygous FH in Spain. Patients in the registry who at the time of analysis were at least 65 years or those who would have reached that age had they not died from an ASCVD event were analysed as a case-control study. Resilient FH was defined as the presence of a pathogenic mutation causative of FH in a patient aged ≥65 years without clinical ASCVD. Nine hundred and thirty registrants with FH met the study criteria. A defective low-density lipoprotein (LDL)-receptor mutation, higher plasma level of high-density lipoprotein cholesterol (HDL-C), younger age, female gender, absence of hypertension, and lower plasma lipoprotein (a) [Lp(a)] concentration were independently predictive of R-FH. In a second model, higher levels of HDL-C and lower 10-year score in SAFEHEART-RE were also independently predictive of R-FH. CONCLUSION: Resilient FH may be typified as being female and having a defective LDL-receptor mutation, higher levels of plasma HDL-C, lower levels of Lp(a), and an absence of hypertension. The implications of this type of FH for clinical practice guidelines and the value for service design and optional care of FH remains to be established. TRIAL REGISTRATION: ClinicalTrials.gov number NCT02693548.

Incidence of cardiovascular events and changes in the estimated risk and treatment of familial hypercholesterolemia: the SAFEHEART registry.

INTRODUCTION AND OBJECTIVES: The SAFEHEART study was designed to analyze the situation of familial heterozygous hypercholesterolemia (FHH) and improve knowledge of this disease in Spain. Our objective was to determine the incidence rate of cardiovascular events, the estimated risk of developing an event and its modification, the use of lipid-lowering treatment, and the achievement of low-density lipoprotein cholesterol targets in patients with FHH. METHODS: SAFEHEART is a prospective, open, multicenter, nationwide cohort study, with long-term protocol-based follow-up in a population of individuals with molecularly-characterized FHH. We analyzed patients older than 18 years with complete follow-up. RESULTS: We included 2648 patients with FHH. The median follow-up was 6.6 (4.8-9.7) years. The overall incidence rate of cardiovascular events was 1.3 events/100 patient-years. After the follow-up, the 10-year estimated risk of developing a cardiovascular event was reduced from 1.6% to 1.3% (P <.001). In the last follow-up, 20.6% and 22.2% of the patients in primary and secondary prevention achieved low-density lipoprotein cholesterol values <100mg/dL and <70mg/dL, respectively. CONCLUSIONS: This study was performed in the largest population of patients with FHH in Spain. We identified the incidence rate of cardiovascular events, the estimated risk of developing a cardiovascular event and its modification, the achievement of low-density lipoprotein cholesterol targets, and the therapeutic management in this population. Although the cardiovascular risk of FHH is high, appropriate treatment reduces the likelihood of an event. CLINICAL TRIAL REGISTRATION: http://www.clinicaltrials.gov. Identifier: NCT02693548.

Radiofrequency Ablation of Thyroid Nodules: A Long-Term Prospective Study of 24 Patients.

PURPOSE: To evaluate the volume reduction rate (VRR) of thyroid nodules over a long period of time after radiofrequency (RF) ablation treatment in both solid and mixed nodules; to determine ablation parameters; and to evaluate complications and success rates and safety of RF ablation. MATERIAL AND METHODS: In this prospective study, 24 patients (83% females and 17% males; age 50.17 ± 13.6 years) underwent ultrasound-guided percutaneous RF ablation of benign thyroid nodules with radiologic follow-up at 1, 3, 6, 12, 24, and 36 months after treatment. All patients presented with compressive or cosmetic complaints and with Thyroid Imaging Reporting and Data System 1 or 2 nodules under ultrasound and were confirmed to be Bethesda Category II after 2 fine-needle aspirations. RESULTS: A total of 24 nodules (54.2% solid, 37.5% solid predominance, and 8.3% cystic predominance) were included in this study. Significant results in VRR (%) were found at 24 months and 36 months of 69.92 ± 19.23 and 76.84 ± 15.92, respectively. Furthermore, a logarithmic relationship was found when VRR was plotted over time, in both solid and mixed nodules. No correlations were found with any of the ablation parameters. The success rate reached 72.22% at 12 months, and the total complication rate was 16.67% (12.5% minor complications and 4.2% major complications-1 laryngeal nerve palsy), reaching an 83.3% safety. CONCLUSIONS: RF ablation can be an alternative treatment modality in the management of benign symptomatic thyroid nodules. The results show that it is a safe and effective treatment if trans-isthmic approach and moving-shot techniques are correctly followed.

Hemiballism due to hyperglycemic hyperosmolar syndrome.

Non-ketotic hyperglycemia has occasionally been associated with various neurological abnormalities including movement disorders. Hyperglycemic hyperosmolar syndrome (HHS) is the second most common cause of hemiballism-hemichorea, which is due to a contralateral putaminal lesion. We describe a 95-year-old woman with HHS who developed hemichorea-hemiballism syndrome due to a putaminal lesion.