Generation III does not appear to have many affected individuals, but this may be related to age (individuals <50 years old). Based on family history, it seems that the proband, her siblings, and cousins are at risk for developing hypertension, hypercholesterolemia, and CVD. While the risk may not be high, the proband, her siblings, and her paternal cousins are at some degree of risk for diabetes given that there are a few cases in the family. The proband (and her brothers to a lesser extent) are also at risk for osteoporosis, given the diagnosis in her mother. Study estimates that show that about 75% of an individuals peak bone mass is influenced by genetics and that having a family history of osteoporosis increases risks (Frisco, 2006).
Management Plan
It is evident that the probands family is at increased risk for certain conditions, particularly hypertension, hypercholesterolemia, and CVD. However, lifestyle modifications play an important role in risk reduction and prevention. For this family, management will focus on fostering healthy lifestyle choices and primary prevention through routine screening, particularly for cholesterol and blood pressure. Eating a heart-healthy diet, which limits saturated and trans fat and boosts fruits and vegetables, is one of the best ways to lower the risk of developing CVD (Mayo Clinic, 2015). The American Heart Association (AHA) has heart-healthy diet guidelines for all adults and children older than age 2 (Mayo Clinic, 2015). Exercise is equally important and can help individuals maintain a healthy weight and lower blood pressure. Recommendations include moderate activity at least 2 hours a week or vigorous activity for at least 1 hours a week (Mayo Clinic, 2015). In addition to these modifications, medications may also be indicated for certain individuals. In the probands family, individuals who have been diagnosed with hypercholesterolemia are currently taking stating medications. Guidelines from the American College of Cardiology (ACC) and the AHA focus on four main groups of people who may benefit from statins; people who already have CVD, people who have very high LDL levels (>190mg/dL), people who have diabetes, and people who have a higher 10-year risk of heart attack (Mayo Clinic, 2015). The ACC and AHA have recently developed an online tool that asks about age, race, sex, blood pressure, cholesterol levels, and whether an individual has diabetes or smokes cigarettes to predict a persons chance of having a MI in the next 10 years (Mayo Clinic, 2015). While the proband does not smoke, any family members who do should be counseled about the benefits of quitting. Also, the family should be educated about how healthy lifestyle choices are important in combatting against diabetes, an epidemic disease (McEwen, et al., 2010). The incidence of diabetes is expected to grow based on 2012 statistics which show that 37% of U.S. adults aged 20 years or older were found to have prediabetes; a condition in which individuals have high blood glucose levels but not high enough to be classified as diabetes (CDC, 2014). The proband should also be encouraged to participate in weight-bearing exercises and have a diet rich in calcium and vitamin D to lower her risk for osteoporosis (National Osteoporosis Foundation, 2015).
The National Cholesterol Education Program recommends that adults aged 20 years or older have their cholesterol checked every 5 years, however, those with a family history may benefit from yearly testing (CDC, 2013). For individuals with a history of CVD, cholesterol can be checked as often as every 3 to 6 months (CDC, 2013). According to the AHA (2014), blood pressure screening is recommended at least once every two years starting at the age of 20. The CDC recommends blood glucose levels be checked at least once every three years starting at age 45. The U.S. Preventive Services Task Force recommends osteoporosis screening with bone density scans for women aged 65 and older and in younger women whose facture risk is equal to or greater than that of a 65 year old white women who has no additional risk factors (2011). Therefore for this family, important recommendations based on the above guidelines include:
routine cholesterol screening;
exercise (especially weight-bearing for those at risk for osteoporosis);
smoking cessation;
heart-healthy diet;
calcium and vitamin D supplements (particularly for those at risk for osteoporosis);
genetic counseling and testing for FH (begin with those who have hypercholesterolemia);
routine physical exams (mostly for blood pressure measurement);
And screening for pre-diabetes (a priority for those in the family who are overweight or have symptoms).
Lifestyle modification is the most difficult part of disease management and studies show that non-compliance rates for chronic illness regimens are approximately 50% (McEwen, et al, 2010). Management is challenging and multidimensional making regimen adherence a common obstacle. An individual needs support from family, providers, and the environment to help manage their diseases. The screening tests mentioned are primary prevention methods with the goal of protecting healthy people from disease and suffering through early detection. Recognizing the risk an individual has for certain conditions is a first step in promoting the management of controllable aspects of disease. The Richwoods are traditionally hardworking people. They are engaged in intense manual work, working in heavy steel or mining fields. Their women have been engaged in constant industry work. This has impacted on their genetic fields further the negative mutation of the protein DNA of Hummer Richwood. Evidence from Caudal et al. (2014) long periods of stress have led to impairment of Glucocorticoid, mineral corticoid and most importantly impairing the functioning of the hormonal insulin. In response, the counseling will encourage members to take up careers that do not affect their psychological thinking patterns. From all the forty five possible causes of diabetes which was essentially an extension to the 15 of them, it i...
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