Diagnostic Criteria For Familial Hypercholesterolemia Research Articles

Improved Efficiency of the Clinical Diagnostic Criteria for Familial Hypercholesterolemia in Children: A Comparison of the Japan Atherosclerosis Society Guidelines of 2017 and 2022

Improved Efficiency of the Clinical Diagnostic Criteria for Familial Hypercholesterolemia in Children: A Comparison of the Japan Atherosclerosis Society Guidelines of 2017 and 2022

Prognostic value of diagnostic criteria for familial hypercholesterolemia in men and women with dyslipidemia

Aim. To analyze the prognostic value of the Dutch Lipid Clinic Network (DLCN) and Simon Broome Register (SBR) screening criteria for familial hypercholesterolemia (FH) in men and women with dyslipidemia.Material and methods. The study included 1233 patients with dyslipidemia.Biomaterial samples from 421 patients were studied using Next Generation Sequencing (NGS) to identify FH-associated genes. Statistical analysis was carried out using the StatTech v program. 3.1.6 (OOO Stattekh, Russia).Results. The most significant factors for predicting the FH in men are the level of low-density lipoprotein cholesterol (LDL-C) (1,77 times), positive family history for coronary artery disease (CAD) (6,26 times), multivessel coronary artery disease (4,05 times); in women before menopause — LDL-C (1,77 times per 1 mmol/l) and/or family history of coronary artery disease (3,31 times), in menopausal women — total cholesterol level (1,79 times per 1 mmol/l), coronary artery disease (6,52 times) and/or family history of stroke (6,04 times), xanthomas (4,24 times). Acute myocardial infarction and/or coronary stenting, arcus senilis, extracranial artery atherosclerosis did not prove to be prognostically significant for FH diagnosis.Conclusion. Diagnostic criteria for potential FH vary among patient populations. Its diagnostic significance depends on sex, and in women, reproductive status.

Towards a readjustment of diagnostic criteria for familial hypercholesterolemia in France and doors open to a combined biochemical and molecular score

Towards a readjustment of diagnostic criteria for familial hypercholesterolemia in France and doors open to a combined biochemical and molecular score

Prevalence of premature coronary artery disease (CAD) according to clinical familial hypercholesterolaemia (FH) diagnosis in Lithuania

Background and Aims : We aimed to determine the prevalence of CAD according to clinical diagnosis of Familial Hypercholesterolemia(FH) in Lithuania.Methods: Prospective observational cohort study enrolled patients with clinically diagnosed FH treated in Vilnius University Hospital Santaros Klinikos during the period of 2016-2021. According to Dutch Lipid Clinic Network (DLCN) diagnostic criteria for FH, definite FH was diagnosed when a total point score was>8, probable–6-8, possible-3-5,unlikely<3 points. Premature CAD was defined as occuring in men <55 years and women <60 years. Obstructive Atherosclerotic CAD was defined as the presence of stenosis ≥50% in at least one coronary vessel in Coronary Computed Tomography Angiography(CCTA) or coronary angiography, as well as performed percutaneous coronary intervention(PCI) or coronary arteries bypass grafting(CABG). Data of 119 study patients were included in the analysis. The prevalence of premature CAD was compared in different groups according to FH diagnosis. Statistical analysis was performed using R(v. 4.0.4) program package.Results: Of 119 examined patients 52,1%(n=62) were women and47,9%(n=57) were men.In the study population, premature CAD was diagnosed for 26%(n=31) patients. 21,8%(n=26) of study patients had definite FH diagnosis, 37,8%(n=45) had probable FH, 28,6%(n=34) - possible FH and11,8% (n=14) had unlikely FH diagnosis. Premature CAD was diagnosed to 38,5%(n=10) patients with definite FH, 33,3%(n=15) with probable FH, 14,7%(n=5) with possible FH and 7,1%(n=1) among people with unlikely FH.Conclusions: Our findings indicate that among individuals with premature CAD there is an opportunity to detect an index case for initiation of cascade FH screening, especially in definite and probable FH cases. Background and Aims : We aimed to determine the prevalence of CAD according to clinical diagnosis of Familial Hypercholesterolemia(FH) in Lithuania. Methods: Prospective observational cohort study enrolled patients with clinically diagnosed FH treated in Vilnius University Hospital Santaros Klinikos during the period of 2016-2021. According to Dutch Lipid Clinic Network (DLCN) diagnostic criteria for FH, definite FH was diagnosed when a total point score was>8, probable–6-8, possible-3-5,unlikely<3 points. Premature CAD was defined as occuring in men <55 years and women <60 years. Obstructive Atherosclerotic CAD was defined as the presence of stenosis ≥50% in at least one coronary vessel in Coronary Computed Tomography Angiography(CCTA) or coronary angiography, as well as performed percutaneous coronary intervention(PCI) or coronary arteries bypass grafting(CABG). Data of 119 study patients were included in the analysis. The prevalence of premature CAD was compared in different groups according to FH diagnosis. Statistical analysis was performed using R(v. 4.0.4) program package. Results: Of 119 examined patients 52,1%(n=62) were women and47,9%(n=57) were men.In the study population, premature CAD was diagnosed for 26%(n=31) patients. 21,8%(n=26) of study patients had definite FH diagnosis, 37,8%(n=45) had probable FH, 28,6%(n=34) - possible FH and11,8% (n=14) had unlikely FH diagnosis. Premature CAD was diagnosed to 38,5%(n=10) patients with definite FH, 33,3%(n=15) with probable FH, 14,7%(n=5) with possible FH and 7,1%(n=1) among people with unlikely FH. Conclusions: Our findings indicate that among individuals with premature CAD there is an opportunity to detect an index case for initiation of cascade FH screening, especially in definite and probable FH cases.

Familial hypercholesterolemia in China requires greater efforts

Familial hypercholesterolemia in China requires greater efforts

Extent of lipid core plaque in patients with Achilles tendon xanthoma undergoing percutaneous coronary intervention for coronary artery disease

BackgroundIt has been reported that Achilles tendon xanthoma (ATX), being one of the important diagnostic criteria for familial hypercholesterolemia, is independently associated with the severity of coronary artery disease (CAD). The aim of this study was to investigate plaque vulnerability in CAD patients with ATX. MethodsPatients with CAD who underwent percutaneous coronary intervention (PCI) with near-infrared spectroscopy-intravascular ultrasound (NIRS-IVUS) guidance were enrolled. Soft X-ray radiography of the Achilles tendon was performed, and a maximum thickness of 9 mm or more was regarded as ATX. Using NIRS-IVUS, the degree of lipid core plaque (LCP) was evaluated by calculating the maximum value of lipid core burden index (LCBI) for any of the 4-mm segments (maxLCBI4mm) in the target lesion and non-target vessel. ResultsIn a total of 156 patients, 14 patients (9.0%) had ATX. MaxLCBI4mm in the ATX group was significantly greater in the target lesion (p<0.001) and in the non-target vessel (p=0.032) compared to the non-ATX group. When patients were divided into tertiles according to Achilles tendon thickness, maxLCBI4mm was progressively increased in favor of thickness, although there was only a tendency in the target lesion (p=0.062), and no statistical significance in the non-target vessel (p=0.189). Multiple linear regression analysis determined ATX as an independent predictor for maxLCBI4mm in the target lesion and non-target vessel. ConclusionsATX was associated with the degree of LCP in CAD patients requiring PCI. High-risk patients with lipid-rich vulnerable plaque can possibly be detected by evaluating Achilles tendon thickness.

Achilles tendon thickness is associated with coronary lesion severity in acute coronary syndrome patients without familial hypercholesterolemia

BackgroundThickening of Achilles tendon (≥9 mm on radiography) is one of the diagnostic criteria for familial hypercholesterolemia (FH). Since FH is associated with premature coronary artery disease (CAD) including acute coronary syndrome (ACS), measurement of Achilles tendon thickness (ATT) is important for early diagnosis of FH. However, clinical significance of mild thickening of Achilles tendon in non-FH patients with CAD is unclear. The present study investigated the association of ATT with coronary lesion severity in early-onset ACS without clinically diagnosed FH. MethodsFrom outpatients who had a history of ACS under 60 years old, 76 clinically non-FH subjects (71 men and 5 women; mean age at the onset of ACS, 50.5 years) with maximum ATT of <9 mm were enrolled in this study. The severity of coronary lesions was assessed by SYNTAX score derived from coronary angiography at the onset of ACS. ResultsATT levels were not significantly different among patients with ST-elevation myocardial infarction (STEMI, n=47), non-STEMI (n=12), and unstable angina (n=17). Whereas, both average and maximum ATT were significantly larger in patients with multivessel lesions (n=25) than in those with single-vessel disease (n=51). Furthermore, SYNTAX score was positively correlated with average ATT (r=0.368, p=0.0011) and maximum ATT (r=0.388, p=0.0005). As for the relation to clinical parameters, maximum ATT had positive correlations with body mass index and C-reactive protein. A multiple regression analysis revealed that average and maximum ATT were significantly associated with SYNTAX score, independently of various confounding factors. ConclusionsOur findings demonstrated that ATT, even though its level was <9 mm, was associated with coronary lesion severity in clinically non-FH patients with early-onset ACS. Apart from diagnosing FH, ATT may be a predictor of the progression of CAD.

Diagnostic criteria for familial hypercholesterolemia in children

Diagnostic criteria for familial hypercholesterolemia in children

Abstract 13031: Universal Screening for Familial Hypercholesterolemia in Young Adults: The Young FH Study

Introduction: Familial hypercholesterolemia (FH) is caused by genetic defects in low-density lipoprotein (LDL) receptor pathway, resulting in a persistent elevation of plasma LDL-cholesterol (LDL-C) levels as well as an increased risk of cardiovascular diseases. Early diagnosis and treatment are imperative for its management. Currently, FH patients are mainly identified by cascade screening. However, FH is underdiagnosed and undertreated, particularly in young adults, which warrants a systematic screening strategy. Hypothesis: Considering that the prevalence of FH is high (~0.4% in the general population) and that treatment of FH should be initiated earlier at the latest in young adults, we hypothesized that the universal screening of LDL-C in young adults is beneficial for early diagnosis and treatment of FH. Methods: At the University of Tokyo, plasma LDL-C levels have been measured at heath checkups for employees as well as new students. Young adults (18-30 years old) with hypercholesterolemia (LDL-C ≥ 160 mg/dL) identified by universal screening and referred to the University of Tokyo Hospital were eligible (the Young FH study). Those who have been identified by cascade screening were excluded. Mutation in FH-causing genes, as well as clinical and biochemical parameters useful for the clinical diagnosis of FH, were analyzed. The protocol was approved by the human genome, gene analysis research ethics committee of the University of Tokyo. Results: Of the total participants (n = 89, mean age 23.4 ± 3.4 years), 36 (40%) had mutations in LDLR or PCSK9 . The prevalence of mutation carriers was higher in non-obese than in obese participants (47% for body mass index (BMI) &lt; 24 kg/m 2 vs. 26% for BMI ≥ 24). The sensitivity and specificity of clinical diagnosis were 28% and 85%, respectively, by Dutch Lipid Clinic Network Criteria (definite + probable FH), or 22% and 98%, respectively, by Japanese diagnostic criteria of FH. Conclusions: The universal screening of LDL-C effectively identifies FH high-risk patients in Japanese young adults. This screening may be beneficial in countries with low-prevalence of obesity or in non-obese populations. The use of clinical diagnostic criteria of FH for universal screening may lead to underdiagnosis.

A reassessment of the Japanese clinical diagnostic criteria of familial hypercholesterolemia in a hospital-based cohort using comprehensive genetic analysis

BackgroundClinical diagnostic criteria of familial hypercholesterolemia (FH) in Japan include LDL cholesterol ​≥ ​180 ​mg/dL, Achilles tendon thickness ​≥ ​9.0 ​mm, and family history. However, few data exist regarding its validation. Design and MethodsA series of 680 participants, with a mean LDL cholesterol of 175 ​mg/dL were enrolled at Kanazawa University Hospital between 2006 and 2018. All had full assessments of, LDL cholesterol, Achilles tendon X-rays, family history records, and genetic analysis of FH-associated genes (LDLR, APOB, and PCSK9). The area under the curve (AUC) of receiver operating characteristic (ROC) curve analysis predicting the presence of FH mutations by each clinical marker were assessed. ResultsThe optimal cutoff values predicting the presence of an FH-associated mutation were 181 ​mg/dL for LDL cholesterol and ≥7.0 ​mm for Achilles tendon thickness. AUCs predicting FH mutations were 0.827 for Achilles tendon thickness ≥9.0 ​mm, 0.889 for LDL cholesterol ≥180 ​mg/dL, and 0.906 for family history. If Achilles tendon thickness ≥7.0 ​mm was used as a clinical criterion, then 41 participants (6%) were newly diagnosed with FH and 86 (12%) were newly misclassified as FH. ConclusionsCurrent clinical diagnostic criteria of FH were validated in this cohort. We recommend considering a tentative diagnosis of “potential FH” if the Achilles tendon thickness is ​≥ ​7.0 ​mm and <9.0 ​mm rather than dismissing a diagnosis of FH.

The interconnection between lipoprotein(a), lipoprotein(a) cholesterol and true LDL-cholesterol in the diagnosis of familial hypercholesterolemia.

Elevated levels of lipoprotein(a) [Lp(a)] are present in 30-50% of patients with familial hypercholesterolemia. The contribution of Lp(a) towards risk stratification of patients with familial hypercholesterolemia has been recently recognized, with studies showing a significantly worse prognosis if Lp(a) is elevated. However, the role of elevated Lp(a) in diagnosis of familial hypercholesterolemia is less well defined or accepted. An important confounder in the diagnosis of familial hypercholesterolemia is the significant contribution of the cholesterol content on Lp(a) (Lp(a)-C) in individuals with elevated Lp(a). Because Lp(a)-C is incorporated into all clinical LDL-C measurements, it can contribute significantly to the cholesterol threshold diagnostic criteria for familial hypercholesterolemia used in most clinical algorithms. In this review, we discuss the interrelationship of Lp(a), Lp(a)-C and correct LDL-C in the diagnosis and prognosis of familial hypercholesterolemia. Future studies of accurately measuring correct LDL-C or in using apoB-100 and Lp(a) criteria may overcome the limitations of using estimated LDL-C in the diagnosis of familial hypercholesterolemia in individuals with concomitant elevation of Lp(a).

Achilles tendon thickening is associated with higher incidence of adverse cardiovascular event in patients with coronary artery disease.

Achilles tendon thickening (ATT) is a marker of high risk for coronary artery disease (CAD). However, the association between the presence of ATT and the incidence of cardiovascular events in patients with CAD is unclear. A total of 406 consecutive patients who underwent percutaneous coronary intervention (PCI) and ATT assessment were analyzed. ATT was defined as the Achilles tendon thickness of 9mm or more on radiography. The incidence of major adverse cardiovascular events (MACE) at 1-year was compared between patients with ATT and those without ATT. MACE included cardiac death, non-fatal myocardial infarction, stroke, target vessel revascularization (TVR), and non-TVR. ATT was found in 67 patients (16.5%). The incidence of cardiac death (3.2 vs. 0.0%, p = 0.001), TVR (12.7 vs. 4.0%, p = 0.005) and MACE (20.6 vs. 9.6%, p = 0.011) was significantly higher in the ATT group than the no ATT group. Patients with ATT had significantly higher incidence of cardiac death (5.6 vs. 0%, p < 0.001) than those without ATT even if they did not meet the diagnostic criteria of familial hypercholesterolemia. A multivariate model demonstrated that ATT was independently associated with the MACE at 1-year (Hazard ratio, 2.09; 95% Confidence Interval, 1.09-4.00, p = 0.026). The presence of ATT was independently associated with 1-year recurrence of cardiovascular events in patients with CAD undergoing PCI. Assessment of ATT might be useful for risk stratification of secondary cardiovascular events.

Association between Achilles tendon xanthoma and severity of coronary artery disease in patients undergoing percutaneous coronary intervention

BackgroundTendon xanthoma, represented as Achilles tendon xanthoma (ATX), is one of the important diagnostic criteria for familial hypercholesterolemia (FH). However, there are some cases with ATX who do not meet these criteria. This study aimed to investigate the severity of coronary artery disease (CAD) in patients with ATX. MethodsA total of 394 patients with CAD undergoing percutaneous coronary intervention (PCI) at Chiba University Hospital between June 2016 and February 2018 were enrolled. Soft X-ray radiography of Achilles tendon was performed, and a maximum thickness of 9 mm or more was regarded as ATX. Heterozygous FH was diagnosed according to the diagnostic criteria proposed by the Japan Atherosclerosis Society in 2017. CAD severity was assessed by SYNTAX score before the first PCI during the study period. ResultsThere were 43 (10.9%) patients with ATX, and 16 (4.1%) were diagnosed as FH (15 with ATX and 1 without ATX). The ATX group showed greater body mass index, lower high-density lipoprotein cholesterol level, and the higher prevalence of FH, diabetes, prior myocardial infarction, acute coronary syndrome, multivessel disease, hemodialysis, and prior statin administration. SYNTAX score and the rate of SYNTAX score ≥23 were significantly higher in the ATX group compared with the non-ATX group (p < 0.001 for each). When patients were divided into quartiles according to Achilles tendon thickness, SYNTAX score and the prevalence of SYNTAX score ≥23 were progressively increased in favor of greater Achilles tendon thickness (p < 0.001 for each). Multivariate analysis determined male, diabetes, and ATX as independent predictors for higher SYNTAX score. ConclusionsIn CAD patients undergoing PCI, ATX was independently associated with severity of CAD. Detecting ATX may be useful not only for diagnosing FH, but also for identifying patients with advanced CAD.

Familial Hypercholesterolemia: Improving Outcomes with Newer Agents

Familial hypercholesterolemia (FH) is one of the commonest autosomal dominant genetic disorders which affects lipoprotein metabolism in the body, causing thereby severe hypercholesterolemia, mainly contributed by high level of low density lipoprotein cholesterol (LDLc). This causes polyvascular premature atherosclerosis with significant mortality, especially in the homozygous form (HoFH), where affected persons die in their teens. There are well developed diagnostic criteria for FH but the index of suspicion of the physician needs to be high to detect heterozygous FH. As the blood LDLc values are very high, even the highest doses of statins cannot bring down the levels to optimum. Life style management should also be rigorously implemented. Ezetimibe imparts some extra 10 to 15% reduction of LDLc on top of maximally tolerated dose of statins. PCSK9I agents are recently approved for FH. They reduce LDLc further by 30-50%. The small interfering RNA, inclisiran, reduces LDLc by almost 60% and has shown clinical benefit in FH patients. Many other newer agents are in the pipe line of development. In extreme cases, plasmapheresis is life saving, but difficult to adopt as a regular long term treatment. Often the absolute target of LDLc level is not achieved even with all available measures, and a more than 50% reduction from the baseline value is all that can be attained. Early diagnosis by screening of first degree relatives of the index case helps to attain long term clinical benefit.

P649Validation of clinical diagnostic criteria of familial hypercholesterolemia in Japan: evidence from a comprehensive genetic analysis

Abstract Background Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Japanese clinical diagnostic criteria of FH include LDL cholesterol level ≥180 mg/dl, Achilles tendon thickness (ATT) ≥9.0 mm, and family history of FH or premature coronary disease. Despite FH being a genetic disorder, genetic testing is rarely used, few data exist regarding the validation of those criteria, especially, by studies using comprehensive genetic analyses. Methods This study included 680 subjects (344 men, mean LDL cholesterol = 175 mg/dl) who underwent the full assessments for FH, including LDL cholesterol measurement, Achilles tendon X-ray, investigations for family history, and comprehensive genetic analyses on FH-associated genes (LDL receptor, PCSK9, APOB, and LDLRAP1) in our University Hospital since 2006 to 2018. The area under curve (AUCs) of receiver-operating characteristic (ROC) curve analyses predicting FH-mutation positive were compared among those determined by each component. Results ROC analyses revealed the optimal cutoff LDL cholesterol value for predicting the presence of FH-mutation was 181 mg/dl, and that of ATT was ≥7.0 mm. AUCs of each component (ATT, LDL cholesterol, and family history) were 0.827, 0.889, and 0.906, respectively, and the combination of all components increased it to 0.975. When adopting ATT ≥7.0 mm as one of the clinical diagnostic criteria, 13 individuals (2%) were newly classified as true-FH, whereas, 27 (4%) individuals were newly misclassified as FH. Conclusion The current Japanese clinical diagnostic criteria of FH were pretty well validated in our independent cohort. However, the threshold of ATT could be lowered to 7.0 mm to raise the sensitivity of its criteria.

Autosomal recessive hypercholesterolemia: Case report

Autosomal recessive hypercholesterolemia (ARH; OMIM #603813) is a very rare monogenic disorder affecting less than 1 in 1000,000 people and is characterized by very high levels of low-density lipoprotein cholesterol (LDL-C), leading to aggressive and premature atherosclerotic cardiovascular disease if left untreated. Lowering of LDL-C is the main target of the treatment. We report on a 29-year-old male patient born in nonconsanguineous Lithuanian family homo(hemi-)zygous for LDLRAP1 gene variant causing ARH. This variant is not present in population databases and, to our knowledge, has not been reported in scientific literature before. The earliest clinical sign, noticed at the age of 5 years, was painful and enlarging nodules on Achilles tendons. At the age of 10 years, xanthomas of the metacarpal joint area on both hands emerged. The first lipid panel was performed at the age of 12 years. In accordance with Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolemia (FH), definite FH (type IIA hyperlipoproteinemia) was diagnosed and the treatment with cholestyramine 4 grams per day was initiated. As the patient was 15 years old, direct adsorption of low-density lipoprotein apheresis was started and repeated monthly. At the age of 20 years, along with lipoprotein apheresis, 10 mg of rosuvastatin daily intake was prescribed. At the age of 28 years, the dose of rosuvastatin was increased to 40 mg per day, and 10 mg of ezetimibe daily intake was added. At the age of 28 years, homozygous LDLRAP1 gene variant NM_015627.2:c.488A>C, NP_056442.2:p.(Gln163Pro) causing autosomal recessive hypercholesterolemia was determined by genetic testing. This case report implies that ARH, being an extremely rare disorder, is a severe disease. As there is limited routine testing, including genetic testing, patients suffering from both this disease and FH may remain undiagnosed. Cascade screening and genetic counseling differ for ARH as compared with FH, as the carrier of a pathogenic variant in the LDLRAP1 gene does not have marked total cholesteroland LDL-C elevations. However, genetic testing of the proband and their relatives is essential to evaluate the risk of development of FH and to provide prognosis as well as adequate, timely treatment. To improve the quality of life of patients with FH and prolong their life expectancy, national registries of FH and wider laboratory and genetic testing are undoubtedly necessary. A national FH screening program was set up in Lithuania, which helps to identify, monitor, and treat subjects with FH.

Genetic analysis of early onset familial coronary artery diseases.

IntroductionCoronary artery diseases (CAD) are the most common causes of death. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in a first-degree relative could be defined as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD.Material and methodsIn this study, the genetic cause of familial CAD was investigated in patients with a family history of CAD who underwent angiography before the age of 50 years. The patients did not have any diagnostic criteria for familial hypercholesterolemia, diabetes, or obesity, and also they were not opium or alcohol users. Whole exome sequencing in probands was performed and mutation was confirmed by PCR and Sanger sequencing.ResultsIn our studied population, the c.501G>C (p.K167N) mutation in the OLR1 gene was identified in a family. Mutation was confirmed by PCR and Sanger sequencing in the homozygous state (GG) in patients. Healthy individuals in this family were heterozygous (GC) and homozygous (CC).ConclusionsThis finding suggests that the OLR1 gene could be a possible cause of early onset familial MI. Considering that parents of all affected individuals had a consanguineous marriage, it is important to perform carrier screening and genetic counseling in this family and their close relatives as a prevention strategy in populations at risk.

Abstract 243: Familial Hypercholesterolemia Screening at a Large Corporate Clinic in Japan

Background and Aims: Familial hypercholesterolemia (FH) is a high risk of developing premature coronary artery disease even in heterozygotes. It is reported that the diagnostic rate in Japan and the United States is extremely low compared with the Netherlands and a few countries. The diagnostic criteria of FH vary from country to country. Using the JASb(Japan Atherosclerosis Society) diagnostic criteria, it has been shown that sensitivity and specificity in patients who visited lipid clinics are high, but those in the general population are not clear. In this study, we tried to screen FH in a clinic of a large Japanese corporation. Methods: During the period from July 1, 2014 to October 31, 2017, we extracted patients suspected of FH with LDL-C≧180mg/dL or with a family history of CAD at annual and follow-up medical checkup. In the extracted patients, family history of premature CAD and Achilles tendon thickening were evaluated. For patients to which additional information was added, FH diagnosis by JAS diagnostic criteria and by Dutch criteria were performed. Results: A total of 3,3136 medical checkups were set for about 6,300 subjects, and a total of 2,8108 visits were made (the examination rate was 84.8%). Among them, 328 patients with suspected FH were extracted due to LDL-C of 180 mg/dL or more, or family history of CAD. Among subjects additional information was obtained as of November 2017, 43 (19.6%) were diagnosed as FH on JAS criteria, and the number was higher than predicted from the estimated prevalence of FH. On the other hand, there were 24 patients who were "Definite" or "Probably" in Dutch criteria and 211 patients with LDL-C≧190 mg/dL. LDL-C of patients diagnosed as FH by JAS diagnostic criteria was 206.6 (45.3) mg/dL, while patients who did not meet the criteria also had high LDL-C values as 201.4 (18.6) mg/dL. 26.8% of patients who met the diagnostic criteria of FH had not received statin at the time of evaluation. Conclusion: The number of patients satisfying the JAS criteria was more than predicted from the prevalence, suggesting the possibility of over-diagnosis. On the other hand, there were many patients who do not satisfy the diagnostic criteria even when LDL-C is very high.

RELATION BETWEEN ACHILLES TENDON THICKENING AND SEVERITY OF CORONARY ARTERY DISEASE DESPITE CLINICALLY DIAGNOSED FAMILIAL HYPERCHOLESTEROLEMIA IN PATIENTS UNDERGOING PERCUTANEOUS CORONARY INTERVENTION

Tendon xanthoma, represented as Achilles tendon thickening (ATT), is one of the important diagnostic criteria for familial hypercholesterolemia (FH). However, there are some cases with ATT who do not meet these criteria. This study aimed to investigate the severity of coronary artery disease (CAD)

Prevalence, diagnosis, and treatment of familial hypercholesterolaemia in outpatient practices in Poland.

Familial hypercholesterolaemia (FH) is the most common genetic disease leading to premature atherosclerosis. The aim of the study was to evaluate the prevalence, diagnosis, and treatment of FH in outpatient practices in Poland. The study included a representative sample of 147 primary care physicians, cardiologists, and diabetologists caring for 2812 adult patients with hypercholesterolaemia and low-density lipoprotein cholesterol (LDL-C) level > 1.8 mmol/L, who were treated with statins or did not receive statins due to intolerance or contraindications. The physicians declared whether they diagnosed FH in the study group. In addition, we evaluated the Dutch Lipid Clinic Network (DLCN) diagnostic criteria for FH in all patients. The results were weighted and extrapolated to the general outpatient population in Poland. Treatment and its effectiveness were also evaluated. FH6+ score by the DLCN criteria was found in 3.6% of the study group, which translates by extrapolation to 136,300 adult patients with FH in Poland. Among patients with FH6+, this diagnosis was correctly made by physicians in 25% of cases and was not established in 75% of cases. Only 32.8% of patients received high statin doses. High LDL-C levels were found in a large proportion of patients, including levels ≥ 5.0 mmol/L in 42.7% of patients and ≥ 4.1 mmol/L in 59.7% of patients. Familial hypercholesterolaemia is inadequately diagnosed and treated in Poland, which calls for a radical im-provement of pre- and postgraduate education in this regard.