13 Additional challenges of genetic testing include genetic discrimination for possible life and long-term care insurance. This observation may be explained due to mutations in established genes that have yet to be discovered, novel FH genes, or presence of an FH phenocopy. Individuals with a clinical diagnosis of definite FH are found to harbor causal mutations only 60-80% of the time. There are important caveats in the molecular diagnosis of FH. 4,8 This risk can be reduced to that of the general population with appropriate recognition and treatment of FH. 4 Patients with untreated heterozygous FH are at approximately 10-20-fold increased risk for premature coronary artery disease (CAD). Although the prevalence of FH in the general population is substantial, only about 15% to 20% of affected patients receive a formal diagnosis. The fundamental pathophysiologic hallmark of FH is accelerated atherosclerosis due to the cumulative lifetime exposure to high concentrations of circulating LDL. 4-7 There are three major genetic loci linked to FH, with the majority (approximately 88%) of cases due to mutations in the LDL receptor ( LDLR) gene. 1-3 FH is caused by inherited autosomal-dominant defects of LDL metabolism ( Table 1). What are some important considerations in the management of this patient?įamilial Hypercholesterolemia: Prevalence and Pathophysiology, and Screeningįamilial hypercholesterolemia (FH) is the most common monogenic disorder, affecting an estimated 1:250 people worldwide. Labs are notable for a calculated low-density lipoprotein (LDL)-cholesterol (LDL-C) of 284 mg/dL. Physical exam is unremarkable apart from a body-mass index of 33 kg/m 2. He is asymptomatic but reports that he has first-degree relatives with a history of coronary artery disease, some of whom required coronary artery bypass surgery in their fourth decade of life. You don’t need a BMD to calculate risk.A 44-year-old male presents to your clinic to establish care. Can even calculate risk without a BMD reading.Ī simple to use chart based on FRAX – Estimate risk of fracture NOT KNOWING BMDĪ simple to use chart based on FRAX- Estimate risk of fracture KNOWING BMDĪnother fracture risk calculator, best for US populations. Likelihood of fracture for many populations around the world. A trial showed that using this helped patients quit smoking. Show someone who smokes how “old” their lungs are in a nice visual. 5) HematologyĪ prediction rule to identify low-risk patients with community acquired pneumonia.īest Antibiotic Sensitivity Chart Ever 2019 EDITION 7) NeurologyĪ great tool for going over the risks and benefits of preventive treatments for stroke.Įstimates stroke risk in patients with atrial fibrillation. 2) DermatologyĬHART – 55 year-old diabetes risk table 4) GastroenterologyĮstimates one-year risk of major bleeding in atrial fibrillation patients. The QRISK2 algorithm has been developed by doctors and academics working in the UK National Health Service and is based on routinely collected data from many thousands of GPs across the country who have freely contributed data for medical research.Ī happy face based tool to help patients make decisions about statins and/or ASA. This risk calculator uses the Framingham risk equation and the adjustments as suggested by the Joint British Societies’ (JBS2) paper and the JBS Cardiovascular Risk Assessor.Ĭalculates CVD risk and incorporates hsCRP.Ĭalculates CVD risk for patients with diabetes and different A1cs can be added which is different than most other calculators which chart diabetes as Yes or No.Ĭharts are based on the NVDPA’s Guidelines for the assessment of absolute cardiovascular disease risk. Mark McConnell from the VA says this is “ the best risk calculator I’ve found” (We are biased in our review of this tool!) Dr. The BEST tool for calculating cardiovascular risk. Gives benefit estimates for all treatments – drug and non-drug. Uses both Framingham, QRISK, ASCVD and PRDICT formulas. Risk calculators and tools for cardiology, dermatology, endocrinology, gastroenterology, hematology, infectious disease, neurology, obstetrics/gynecology, ophthalmology, psychiatry, respiratory, rheumatology, oncology – the list is fairly limited so far – please let us know if you would like tools addedīALLPARK ABSOLUTE BENEFITS FOR DOZENS OF CONDITIONS AND MEDICATIONSĪ synopsis of the benefit of treatments for a number of symptomatic conditionsĪ synopsis of the benefit of treatments for a number of preventative conditionsĬ – Cardiovascular Risk/Benefit/Harm Calculator
0 Comments
Leave a Reply. |
Details
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |