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).
Type 2 diabetes is due to insufficient insulin production from beta cells in the setting of insulin resistance. Insulin resistance, which is the inability of cells to respond adequately to normal levels of insulin, occurs primarily within the muscles, liver, and fat tissue. In the liver, insulin normally suppresses glucose release. However, in the setting of insulin resistance, the liver inappropriately releases glucose into the blood. The proportion of insulin resistance versus beta cell dysfunction differs among individuals, with some having primarily insulin resistance and only a minor defect in insulin secretion and others with slight insulin resistance and primarily a lack of insulin secretion.
1. Monitoring of blood glucose status. In the past, urine testing was an integral part of the management of diabetes, but it has largely been replaced in recent years by self monitoring of blood glucose. Reasons for this are that blood testing is more accurate, glucose in the urine shows up only after the blood sugar level is high, and individual renal thresholds vary greatly and can change when certain medications are taken. As a person grows older and the kidney is less able to eliminate sugar in the urine, the renal threshold rises and less sugar is spilled into the urine. The position statement of the American Diabetes Association on Tests of Glycemia in Diabetes notes that urine testing still plays a role in monitoring in type 1 and gestational diabetes, and in pregnancy with pre-existing diabetes, as a way to test for ketones. All people with diabetes should test for ketones during times of acute illness or stress and when blood glucose levels are consistently elevated.
About 40% of diabetes sufferers require oral agents for satisfactory blood glucose control, and some 40% need insulin injections. This hormone was isolated by Frederic Banting and Charles Best in 1921 in Canada. It revolutionized the treatment of diabetes and prevention of its complications, transforming Type 1 diabetes from a fatal disease to one in which long-term survival became achievable.
Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.
Type 1 diabetes is always treated with insulin, a life-saving treatment. Patients will need to take insulin several times a day for the rest of their lives. They will usually learn how to self-administer this. Insulin is usually given through injections under the skin, normally two to four times a day. An increasing number of patients with type 1 diabetes are being treated with ‘insulin pumps’, which provide a continuous supply of insulin.
Insulin is a hormone that is produced by specialized cells (beta cells) of the pancreas. (The pancreas is a deep-seated organ in the abdomen located behind the stomach.) In addition to helping glucose enter the cells, insulin is also important in tightly regulating the level of glucose in the blood. After a meal, the blood glucose level rises. In response to the increased glucose level, the pancreas normally releases more insulin into the bloodstream to help glucose enter the cells and lower blood glucose levels after a meal. When the blood glucose levels are lowered, the insulin release from the pancreas is turned down. It is important to note that even in the fasting state there is a low steady release of insulin than fluctuates a bit and helps to maintain a steady blood sugar level during fasting. In normal individuals, such a regulatory system helps to keep blood glucose levels in a tightly controlled range. As outlined above, in patients with diabetes, the insulin is either absent, relatively insufficient for the body's needs, or not used properly by the body. All of these factors cause elevated levels of blood glucose (hyperglycemia).
The most common test used to diagnose diabetes is the fasting blood glucose. This test measures the glucose levels at a specific moment in time (normal is 80-110 mg/dl). In managing diabetes, the goal is to normalize blood glucose levels. It is generally accepted that by maintaining normalized blood glucose levels, one may delay or even prevent some of the complications associated with diabetes. Measures to manage diabetes include behavioral modification (proper diet, exercise) and drug therapies (oral hypoglycemics, insulin replacement). The choice of therapy prescribed takes into consideration the type and severity of the disease present and patient compliance. The physician may request the patient keep a log of their daily blood glucose measurements, in an effort to better assess therapeutic success. Another commonly obtained test is the hemoglobin A1c (HbA1c), which is a surrogate marker used to assess blood glucose levels over an extended period (2-3 months). This test provides the physician with a good picture of the patient’s glucose levels over time.
How does high blood sugar (hyperglycemia) feel? To maintain the right amount of blood sugar, the body needs insulin, a hormone that delivers this sugar to the cells. When insulin is lacking, blood sugar builds up. We describe symptoms of high blood sugar, including fatigue, weight loss, and frequent urination. Learn who is at risk and when to see a doctor here. Read now
People with glucose levels between normal and diabetic have impaired glucose tolerance (IGT) or insulin resistance. People with impaired glucose tolerance do not have diabetes, but are at high risk for progressing to diabetes. Each year, 1% to 5% of people whose test results show impaired glucose tolerance actually eventually develop diabetes. Weight loss and exercise may help people with impaired glucose tolerance return their glucose levels to normal. In addition, some physicians advocate the use of medications, such as metformin (Glucophage), to help prevent/delay the onset of overt diabetes.
Feeling famished all the time? Your body could be trying to tell you that something’s up with your blood sugar. Many people with diabetes experience extreme hunger when their condition is unmanaged, thanks to high blood sugar levels. When your body can’t effectively convert the sugar in your blood into usable energy, this may leave you pining for every sandwich or sweet you see. And if you’re looking for a filling snack that won’t put your health at risk, enjoy one of the 25 Best and Worst Low-Sugar Protein Bars!
Is it your fault for getting type 2 diabetes? No – type 2 diabetes is not a personal failing. It develops through a combination of factors that are still being uncovered and better understood. Lifestyle (food, exercise, stress, sleep) certainly plays a major role, but genetics play a significant role as well. Type 2 diabetes is often described in the media as a result of being overweight, but the relationship is not that simple. Many overweight individuals never get type 2, and some people with type 2 were never overweight, (although obesity is probably an underlying cause of insulin resistance). To make matters worse, when someone gains weight (for whatever reason), the body makes it extremely difficult to lose the new weight and keep it off. If it were just a matter of choice or a bit of willpower, we would probably all be skinny. At its core, type 2 involves two physiological issues: resistance to the insulin made by the person’s beta cells and too little insulin production relative to the amount one needs.
But preventing the disease from progressing if you already have it requires first being able to spot the signs and symptoms of diabetes when they appear. While some type 2 diabetes symptoms may not ever show up, you can watch out for the following common signs of the disease and alert your doctor, especially if you have any of the common risk factors for diabetes. Also keep in mind that while most signs of type 2 diabetes are the same in men and women, there are some distinctions.