Abstract 15810: Applying an LDL-C Threshold Based Approach to Identify Individuals With Familial Hypercholesterolemia

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Amit Khera ◽  
Reena Jasani ◽  
Zahid Ahmad ◽  
Ruth Schneider ◽  
Carol Tujardon ◽  
...  

Background: Familial hypercholesterolemia (FH) is an inherited disorder associated with increased LDL-C and premature coronary heart disease, which remains significantly underdiagnosed. Screening those with very high LDL-C may help identify those with FH, but the optimal means of applying this approach is unclear. Methods: Individuals from UT Southwestern Medical Center, a large, tertiary academic center, with an LDL-C level ≥ 190 mg/dL at any time were enrolled in an FH registry. These 5,786 patients were divided into four categories of LDL-C: 190.0 - 219.9, 220.0 - 249.9, 250.0 - 299.9, and ≥ 300.0 mg/dL. One hundred individuals were randomly selected from each category for manual chart review to determine 1) the presence of secondary causes of dyslipidemia (obstructive liver disease, nephrotic syndrome, hypothyroidism, specific medication use, other secondary cause) and 2) diagnosis of possible/definite FH by modified Simon Broome criteria and 3) probable/definite FH by modified Dutch Lipid Clinic Network (DLCN) criteria. Results: Of the 400 individuals with an LDL-C level ≥ 190 mg/dL (mean age 52 years ± 14) in this cohort, the presence of secondary causes increased across each LDL-C category ( p < 0.001) (Figure) with the greatest prevalence in those ≥ 300.0 mg/dL (52%). The prevalence of FH also varied by LDL-C category, with the highest prevalence of FH by Simon Broome criteria in the 220.0 - 249.9 mg/dL category (52%) and by DLCN criteria in the 250.0 - 299.9 mg/dL category (46%). Conclusions: Amongst those with LDL-C ≥ 190 mg/dL, the prevalence of secondary causes increases with higher LDL-C, while the diagnosis of FH has a parabolic relationship. Patients with intermediate LDL-C (220 - 299 mg/dL) may be the optimal group to prioritize for FH screening using an LDL-C based approach.

2021 ◽  
Vol 17 (1) ◽  
pp. 4-10
Author(s):  
A. V. Blokhina ◽  
A. I. Ershova ◽  
A. N. Meshkov ◽  
A. S. Limonova ◽  
V. I. Mikhailina ◽  
...  

Aim. To characterize patients accessing lipid clinic and assess the efficiency of treatment in a specialized medical center.Material and methods. A retrospective analysis of the surviving medical records of outpatients who visited the lipid clinic of the National Research Center for Therapy and Preventive Medicine (Moscow, Russia) in 2011-2019 (n=675) was carried out. Cardiovascular risk (CVR) and target lipoproteins levels were evaluated in accordance with actual guidelines for the diagnostics and correction of dyslipidemias.Results. The mediana of lipid clinic patients age was 57 [46;65] years. Female persons attend lipid clinic more often (61.5%). 48.5% of patients had low density lipoprotein cholesterol (LDL-c) >4.9 mmol/L, 7.7% had triglycerides level >5.5 mmol/L. Most of the patients were diagnosed with type IIa hyperlipidemia (44,1%) or type IIb (28,0%). Inherited impaired lipid metabolism was diagnosed in 27.7% individuals. 12.7% of the patients had familial hypercholesterolemia, 57.4% – had secondary causes of impaired lipid metabolism. More than half of the patients (52.4%) had low or moderate CVR, 28.1% had a very high CVR. High or very high CVR individuals revisited the lipid clinic more often than people with lower risk (68.2% vs. 35.4%). Revisiting patients (25.4%) reached LDL-c targets more often (33.3% of very high CVR patients; 45.5% of moderate-risk people) than in ordinary outpatient practice. High-intensity statin therapy was recommended for 32% of patients, and combined lipid-lowering therapy – for 14.8%. Among very high CVR individuals, combined lipid-lowering therapy was prescribed for 38.5%. Given the lipid-lowering therapy prescribed in the lipid clinic, LDL-с<1.8 mmol/L and<1.5 mmol/L will be achieved at 40.7% and 32.9% of patients with very high СVR.Conclusion. Lipid clinic is an important part of the medical care system for long-term follow-up of patients with impaired lipid metabolism, and it is more efficient in achieving target values of lipids and correcting risk factors in comparison with the primary medical service.


2022 ◽  
Vol 12 (1) ◽  
pp. 71
Author(s):  
Victoria Korneva ◽  
Tatyana Kuznetsova ◽  
Ulrich Julius

In patients with familial hypercholesterolemia (FH) the exposure of very high LDL-C concentration and cumulative LDL-C level (cum LDL-C) can play a significant role in the prognosis. Objective: to analyze the contribution of “cum LDL-C for all life” and the index “cum LDL-C/age” to the development of coronary heart disease (CHD), myocardial infarction (MI), and a combined end point: MI, stroke, unstable angina in FH patients. Methods: 188 patients (mean age 49.2 years, males 45.7%) with FH were examined (Dutch Lipid Clinic Criteria). We had evaluated cumulative LDL-C and index “cum DL-C/age” along with other classical risk factors. Cum LDL-C was calculated as LDL-Cmax × (age at initiating of hypolipidemic therapy) + LDL-C at inclusion age at initiation/correction therapy). Cumulative LDL-C and “cum LDL-C/age” were calculated as the ratio cum LDL-C to age. The follow-up period was 5.4 (from 3 to 10) years. Results: The index “cum LDL-C/age” was higher in patients with CHD 58.7 ± 10.4 mmol/L/years vs. 40.1 ± 11.7 mmol/L/years in patients without CHD (p < 0.001). According to our data based on the results of the logistic regression analysis in patients with FH, cumulative LDL-C and the cumulative index “cum LDL–C/age” played a strong predictive role in the development of CHD in FH patients; it was greater than the role of TC and LDL-C concentrations. We present ROC curves for CHD, MI and combined end point in FH patients, and a prognostic scale for CHD development, which is based on classical cardiovascular risk factors. Conclusion: cumulative LDL-C level plays an important role in the development of CHD in FH patients.


2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S152-S152
Author(s):  
S Fathima ◽  
A R Gardner ◽  
A J Sohn ◽  
R Benavides

Abstract Introduction/Objective In teaching hospitals, patients receive direct care from a succession of different physicians, each of whom may order diagnostic tests on the same patient resulting in multiple physicians unknowingly ordering the same test in the same time period, leading to overutilization. We examined the association of test-ordering by multiple physicians with duplication of two tests, Beta D-Glucan (BDG) and CMV Viral Load by PCR non blood, as aid for detection of fungal and cytomegaloviral infections, respectively Methods Retrospective medical records at Baylor University Medical Center, Dallas were examined in between 10/1/2019- 10/30/2019. A total 167 test orders were identified for CMV Viral Load non blood and BDG presence in blood. Each medical record was assessed for frequency of ordering along with the physicians who ordered them Results A total 167 tests were ordered in which, 120 times BDG was ordered and 52 times CMV was ordered. Singleton orders were noted in 85(50%) instances of BDG & 30(17%) for CMV.Multiple test orders were 44 (25%) for BDG and 8 (4%) for CMV respectively. Both CMV and BDG were ordered together 57 times. The time stamps of multiple test orders in individual patients was assessed for instances of orders that were less than 3 days apart and analysis showed out of the 44 multiple test orders, 34% (15) test orders were ordered less than 3 days apart and 66%(29) tests were ordered more than 3 days apart for BDG. Upon chart review, most of these quickly successive orders were by different physicians. The estimated costs of the duplicate orders are 4334.0$ & 1104.16$ for BDG and CMV respectively. Conclusion CMV and BDG are commonly ordered on many patients. Analysis shows that many times, physicians order testing when the same test has been ordered very recently by a separate physician. Note that for both tests, retesting in less than three days is not normally indicated, however this happens often, especially for BDG. This is most likely due to difficulty in determining within the EHR what tests are drawn and “pending’ but not yet finalized and reported. With usage of prompts/ alerts in EMR that warn of existing “pending’ orders by another caregiver, the frequency of duplicate test ordering for the same patient may be reduced, in turn reducing the costs of healthcare.


2021 ◽  
pp. 019459982110129
Author(s):  
Randall S. Ruffner ◽  
Jessica W. Scordino

Objectives During septoplasty, normal cartilage and bone are often sent for pathologic examination despite benign appearance. We explored pathology results following septoplasty from April 2016 to April 2018, examining clinical value and relevance, implications, and cost analysis. Study Design Retrospective chart review. Setting Single-institution academic medical center. Methods A retrospective chart review was compiled by using Current Procedural Terminology code 30520 for septoplasty for indication of nasal obstruction, deviated septum, and nasal deformity. Results A total of 236 consecutive cases were identified spanning a 2-year period. Septoplasty specimens were sent for pathology evaluation in 76 (31%). The decision to send a specimen for histopathology was largely physician dependent. No cases yielded unexpected or significant pathology that changed management. The average total charges for septoplasty were $10,200 at our institution, with 2.2% of procedural charges accounting for pathology preparation and review, averaging $225. Nationally, this results in an estimated charged cost of $58.5 million. The Centers for Medicare and Medicaid Services (CMS) reimbursement for septoplasty pathology charges was $46 in 2018, accounting for 1.3% of hospital-based reimbursements and 2.2% of ambulatory center reimbursements. With CMS as a national model for reimbursement, $11.8 million is spent yearly for septoplasty histopathology. Given that CMS reimbursement is significantly lower than private insurers, national total reimbursement is likely considerably higher. Conclusion Routine pathology review of routine septoplasty specimens is unnecessary, unremarkable, and wasteful. Correlation of the patient’s presentation and intraoperative findings should justify the need for pathology evaluation. This value-based approach can offer significant direct and indirect cost savings. Level of evidence 4.


2021 ◽  
Vol 10 (4) ◽  
pp. 749
Author(s):  
Fernando Sabatel-Pérez ◽  
Joaquín Sánchez-Prieto ◽  
Víctor Manuel Becerra-Muñoz ◽  
Juan Horacio Alonso-Briales ◽  
Pedro Mata ◽  
...  

The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3–5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (n = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (p < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies.


2021 ◽  
Vol 23 (Supplement_D) ◽  
Author(s):  
Ashraf Reda ◽  
Ahmed Bendary ◽  
Ahmed Shawky Elserafy ◽  
Elsayed Farag ◽  
Tamer Mostafa ◽  
...  

Abstract Aims The prevalence of familial hypercholesterolemia (FH) in Egypt is largely un- known. We aimed to estimate the prevalence of FH among 3224 Egyptian patients with acute coronary syndromes enrolled from 2015 to 2018 in the nationwide cross- sectional cardioRisk project. Methods and Results We applied the Dutch Lipid Clinic criteria for the diagnosis of FH on the available data recorded for the patients enrolled in the CardioRisk project. Two main criteria were applied: the presence of premature CAD (given 2 points in the Dutch criteria), and the categorized low density lipoprotein cholesterol (LDL-C) lev- els (given 1, 3, 5, or 8 points in the Dutch criteria according to the level). From a total of 3224 patients, 2743 patients had available LDL-C levels. Among those patients, when applying the abovementioned 2 criteria, we estimated that 472 patients had at least ‘possible’ FH (17.2% of the total population). Specifically, 4 patients had ‘defi- nite’ FH (0.1%), 7 patients had ‘probable’ FH (0.25%), and 461 patients had ‘possi- ble’ FH (16.8%). Conclusion The estimated prevalence of at least ‘possible’ FH among Egyptian patients with ACS is 17%.


2021 ◽  
Vol 1 (S1) ◽  
pp. s42-s43
Author(s):  
Bhagyashri Navalkele ◽  
Wendy Winn ◽  
Sheila Fletcher ◽  
Regina Galloway ◽  
Jason Parham ◽  
...  

Clostridioides difficile infection (CDI) is one of the leading causes of hospital–onset infections. Clinically distinguishing true CDI versus colonization with C. difficile is challenging and often requires reliable and rapid molecular testing methods. At our academic center, we implemented a 2-step testing algorithm to help identify true CDI cases. The University of Mississippi Medical Center is a 700+ bed academic facility located in Jackson, Mississippi. Hospital-onset (HO) CDI was defined based on NHSN Laboratory Identified (LabID) event as the last positive C. difficile test result performed on a specimen using a multistep testing algorithm collected >3 calendar days after admission to the facility. HO-CDI data were collected from all inpatient units except the NICU and newborn nursery. HO-CDI outcomes were assessed based on standardized infection ratio (SIR) data. In May 2020, we implemented a 2-step testing algorithm (Figure 1). All patients with diarrhea underwent C. difficile PCR testing. Those with positive C. difficile PCR test were reflexed to undergo enzyme immunoassay (EIA) glutamate dehydrogenase antigen (Ag) testing and toxin A and B testing. The final results were reported as colonization (C. difficile PCR+/EIA Ag+/Toxin A/B−) or true CDI case (C. difficile PCR+/EIA +/Toxin A/B +) or negative (C. difficile PCR−). All patients with colonization or true infection were placed under contact isolation precautions until diarrhea resolution for 48 hours. During the preintervention period (October 2019–April 2020), 25 HO-CDI cases were reported compared to 8 cases in the postintervention period (June 2020–December 2020). A reduction in CDI SIR occurred in the postintervention period (Q3 2020–Q4 2020, SIR 0.265) compared to preintervention period (Q4 2019–Q1 2020, SIR 0.338) (Figure 2). We successfully reduced our NHSN HO-CDI SIR below the national average after implementing a 2-step testing algorithm for CDI. The 2-step testing algorithm was useful for antimicrobial stewardship to guide appropriate CDI treatment for true cases and for infection prevention to continue isolation of infected and colonized cases to reduce the spread of C. difficile spores.Funding: NoDisclosures: None


2021 ◽  
Vol 8 (2) ◽  
pp. 01-07
Author(s):  
Brenda Bertado Cortes ◽  
Brian Madariaga Cortes ◽  
Massiel Zenteno Zenteno ◽  
Bayron Alexander Sandoval Bonilla

Chronyc lymphosytic inflammation with pontine perivascular enhacement responsive to steroids (CLIPPERS), described for the first time in 2010 by Pittock and collaborators, is a rare inflammatory disease of the central nervous system (SNC) characterized by the presence of punctuate or curvilinear lesions described like “salt and pepper” appearance on the magnetic resonance imaging (MRI), that enhance with Gadoliniumn administration; this lesions show an exquisite response to corticosteroid therapy. The etiology of this disease remains unknown. However, the existing articles suggest an autoimmune component, which may or may not be related to other autoinmmune, infectious or malignant pathologies. Due to the above, it is generally considered that in order to reach the diagnosis of CLIPPERS, the possibility of other more common or aggressive pathologies must first be ruled out through extensive investigation. However, if the clinical and imaging presentation are typical and there is a very high suspicion of CLIPPERS, early initiation of glucosteroid therapy may be recommended. There is no unanimous therapy plan due to the few cases reported worldwide thus far. In cases of severe relapses or atypical behavior, both clinical and radiological, it is recommended to consider a stereotactic biopsy of the lesion to integrate the definitive diagnosis. Because it is a rare disease, it is relatively unknown to first- contact medical personnel; in our particular case, this leads to referral to the neurosurgery department who, thanks to their experience, have considered a demilinizing disease as a diagnostic possibility and requested an assessment by the neurology department. Here, we report the evolution and management of three diagnosed cases of CLIPPERS at a single Third-level Medical Center in México; based on clinical, radiological and neuropathological findings; as well as highlighting the importance of lesion biopsy in selected cases.


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