The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Accelerated atherosclerosis is the main underlying factor contributing to the high risk of atherothrombotic events in DM patients. CAD, peripheral vascular disease, stroke, and increased intima-media thickness are the main macrovascular complications. Diabetics are 2–4 times more likely to develop stroke than people without DM.2 CVD, particularly CAD, is the leading cause of morbidity and mortality in patients with DM.4 Patients with T2DM have a 2- to 4-fold increase in the risk of CAD, and patients with DM but without previous myocardial infarction (MI) carry the same level of risk for subsequent acute coronary events as nondiabetic patients with previous MI.5 Furthermore, people with diabetes have a poorer long-term prognosis after MI, including an increased risk for congestive heart failure and death.
Diagnosis. The most common diagnostic tests for diabetes are chemical analyses of the blood such as the fasting plasma glucose. Capillary blood glucose monitoring can be used for screening large segments of the population. Portable equipment is available and only one drop of blood from the fingertip or earlobe is necessary. Capillary blood glucose levels have largely replaced analysis of the urine for glucose. Testing for urinary glucose can be problematic as the patient may have a high renal threshold, which would lead to a negative reading for urinary glucose when in fact the blood glucose level was high.
The Diabetes Control and Complications Trial (DCCT) was a clinical study conducted by the United States National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) that was published in the New England Journal of Medicine in 1993. Test subjects all had diabetes mellitus type 1 and were randomized to a tight glycemic arm and a control arm with the standard of care at the time; people were followed for an average of seven years, and people in the treatment had dramatically lower rates of diabetic complications. It was as a landmark study at the time, and significantly changed the management of all forms of diabetes.
Your doctor will carefully examine you at each visit for diabetes. In particular they will examine your cardiovascular system, eyes and neurological systems to detect any complications present. In the acute phase you may appear wasted and dehydrated. You may have difficulty breathing and have a sweet smell to your breath. In the later stages, your doctor will check your pulse, listen to your heart, measure your blood pressure (often lying and standing) and examine your limbs to detect any loss of sensation or ulcers.
People with diabetes can benefit from education about the disease and treatment, good nutrition to achieve a normal body weight, and exercise, with the goal of keeping both short-term and long-term blood glucose levels within acceptable bounds. In addition, given the associated higher risks of cardiovascular disease, lifestyle modifications are recommended to control blood pressure.
Scientists have done studies of twins to help estimate how important genes are in determining one's risk of developing diabetes. Identical twins have identical genes and thus the same genetic risk for a disease. Research has found that if one identical twin has type 1 diabetes, the chance that the other twin will get the disease is roughly 40 or 50 percent. For type 2 diabetes, that risk goes up to about 80 or 90 percent. This might suggest that genes play a bigger role in type 2 than in type 1, but that isn't necessarily so. Type 2 is far more common in the general population than type 1, which means that regardless of genetics both twins are more likely to develop type 2 diabetes.
Fatigue and muscle weakness occur because the glucose needed for energy simply is not metabolized properly. Weight loss in type 1 diabetes patients occurs partly because of the loss of body fluid and partly because in the absence of sufficient insulin the body begins to metabolize its own proteins and stored fat. The oxidation of fats is incomplete, however, and the fatty acids are converted into ketone bodies. When the kidney is no longer able to handle the excess ketones the patient develops ketosis. The overwhelming presence of the strong organic acids in the blood lowers the pH and leads to severe and potentially fatal ketoacidosis.
A 2009 study shows how genetic information may shed light on the environment-gene interactions that lead to type 1. In the study, researchers found that one of the type 1 genes mediates the immune system's response to viruses. This finding supported the longtime hypothesis that a virus may somehow make the immune system attack the insulin-producing cells in the pancreas in people who are genetically susceptible to developing diabetes.
To treat diabetic retinopathy, a laser is used to destroy and prevent the recurrence of the development of these small aneurysms and brittle blood vessels. Approximately 50% of patients with diabetes will develop some degree of diabetic retinopathy after 10 years of diabetes, and 80% retinopathy after 15 years of the disease. Poor control of blood sugar and blood pressure further aggravates eye disease in diabetes.
Talking to a counselor or therapist may help you cope with the lifestyle changes that come with a type 2 diabetes diagnosis. You may find encouragement and understanding in a type 2 diabetes support group. Although support groups aren't for everyone, they can be good sources of information. Group members often know about the latest treatments and tend to share their own experiences or helpful information, such as where to find carbohydrate counts for your favorite takeout restaurant. If you're interested, your doctor may be able to recommend a group in your area.
Clinistix and Diastix are paper strips or dipsticks that change color when dipped in urine. The test strip is compared to a chart that shows the amount of glucose in the urine based on the change in color. The level of glucose in the urine lags behind the level of glucose in the blood. Testing the urine with a test stick, paper strip, or tablet that changes color when sugar is present is not as accurate as blood testing, however it can give a fast and simple reading.
For people who want to avoid drugs, taking an aggressive approach to healthy eating plan and lifestyle change is an option. It isn't easy, but if someone is very committed and motivated, lifestyle changes can be enough to maintain a healthy blood sugar level and to lose weight. Learning about a healthy diabetes diet (a low glycemic load diet) can be an good place to start.
Heart disease accounts for approximately 50% of all deaths among people with diabetes in industrialized countries. Risk factors for heart disease in people with diabetes include smoking, high blood pressure, high serum cholesterol and obesity. Diabetes negates the protection from heart disease which pre-menopausal women without diabetes experience. Recognition and management of these conditions may delay or prevent heart disease in people with diabetes.
Having diabetes requires life-long treatment and follow-up by health professionals. Diabetes can be linked to damage of the eyes, kidneys and feet. It is also associated with increased risk of strokes, heart attacks and poor blood circulation to the legs. Medical care aims to minimise these risks by controlling diabetes, blood pressure and cholesterol and screening for possible complications caused by the diabetes.
To measure blood glucose levels, a blood sample is usually taken after people have fasted overnight. However, it is possible to take blood samples after people have eaten. Some elevation of blood glucose levels after eating is normal, but even after a meal the levels should not be very high. Fasting blood glucose levels should never be higher than 125 mg/dL. Even after eating, blood glucose levels should not be higher than 199 mg/dL.
Family or personal history. Your risk increases if you have prediabetes — a precursor to type 2 diabetes — or if a close family member, such as a parent or sibling, has type 2 diabetes. You're also at greater risk if you had gestational diabetes during a previous pregnancy, if you delivered a very large baby or if you had an unexplained stillbirth.