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Familial hypercholesterolemia (FH) is a most prevalent genetic disorder, defines as high cholesterol level and premature death. The prevalence of FH has been reported in few countries however unknown in Iran. Thus recognize the FH patients, determine the diagnostic strategies and appropriate treatments are important.
Also acute coronary syndrome (ACS) is a group of conditions which arises from reduction of blood flow in coronary arteries. Three specific conditions are included: ST elevation myocardial infarction, non ST elevation myocardial infarction and unstable angina. Premature ACS defined by occurrence of ACS<55 for men and ACS<60 for women. Studies demonstrated direct connection between familial hypercholesterolemia and occurrence of premature ACS. Investigators intent to detection of FH amongst patients with acute coronary syndrome.
Familial hypercholesterolemia (FH) is a genetic disorder, defines as high cholesterol levels, particularly very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular events and premature death. FH is an autosomal dominant disease with a prevalence of 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent than Cystic fibrosis, mellitus diabetes or neonatal hypothyroidism. Canadian registry demonstrated FH is more common among some specific population such as French Canadian, Christian Lebanese, and Afrikaner descent. The Major causes of FH are pathogenic variant in the LDL-receptor (LDLR) gene or the Apo lipoprotein B (APOB) gene. The clinical signs of FH are high level of Cholesterol (between 350-550 mg/dL in heterozygous), Yellow deposits of cholesterol-rich fat in various places on the body such as around the eyelids (known as xanthelasma palpebrarum), the outer margin of the iris (known as arcus senilis corneae), and in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (known as a tendon xanthoma).FH is a hidden syndrome which leads to cardiovascular disease.
Acute coronary syndrome is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart.
A study in Switzerland has shown that 50% of patients with premature ACS have FH. Thus Investigators can screen FH with high probability amongst patients with acute coronary syndrome.
After introducing the statins total mortality have reduced significantly in these patients. Thus screening and identification of patients and treatment with the most effective therapies will decrease the risk of premature death.
Also, most of patients require an appropriate lipid-lowering medication. Although the genetic problem is the most important factor to expression of FH, other factors like environmental and metabolic factor can be effective in CVD and premature death.
Following scoring of patients, a one-year and 30-day survival model were created in order to assess the effect of elevated cholesterol on survival,.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Registry | Other |
| Measure | Description | Time Frame |
|---|---|---|
| Number of Familial hypercholesterolemia amongst patients with premature acute coronary syndrome. | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| Survival time after hospitalization. | 30 days | |
| Low Density Lipoprotein (LDL-C) at during follow-up. | 1 Year | |
| High Density Lipoprotein (HDL) at during follow-up. |
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Inclusion Criteria:
Exclusion Criteria:
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participating with premature ACS across Isfahan hospitals.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Isfahan cardio vascular research instiute | Recruiting | Isfahan | Iran |
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| ID | Term |
|---|---|
| D006938 | Hyperlipoproteinemia Type II |
| D002318 | Cardiovascular Diseases |
| D054058 | Acute Coronary Syndrome |
| ID | Term |
|---|---|
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D012042 | Registries |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D011996 | Records |
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Plasma, buffy coat, blood.
| 1 Year |
| triglycerides (TG) at during follow-up. | 1 Year |
| LDL-receptor frequency of mutation in Persian Population. | 1 Year |
| Apo-B frequency of mutation in Persian Population. | 1 Year |
| PCSK9 frequency of mutation in Persian Population. | 1 Year |
| D006951 | Hyperlipoproteinemias |
| D006949 | Hyperlipidemias |
| D050171 | Dyslipidemias |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D017202 | Myocardial Ischemia |
| D006331 | Heart Diseases |
| D014652 | Vascular Diseases |
| D009934 |
| Organization and Administration |
| D006298 | Health Services Administration |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |