Genetics is part of a multidisciplinary and team approach to providing patients more personalized care. A genetic counseling session typically takes less than hour but often allows for a more thorough evaluation of an individual’s personal and family medical histories than can be done during other appointments, such as a physical.
We rely on providers in other specialties to gather specific information related to their area of practice, and we rely on them to recognize the patients that may benefit from a genetics evaluation. Then, they rely on us to combine the information they have given us and the information we gather to assess a person’s risks and to make recommendations.
One woman’s experience
An example of this team approach is the story of a woman who came to genetics to find an explanation for several health problems she had. She had uncontrolled type 2 diabetes and triglycerides that were so high she had been hospitalized multiple times for pancreatitis (inflammation of the pancreas that causes severe abdominal pain, nausea, and vomiting).
This woman had tried diets and medications to treat these symptoms, but nothing was working. She told us that anytime she saw a new provider she had to explain that she did not eat an unhealthy diet. When she went to the emergency department for pancreatitis, she had to persuade the staff that she was not a heavy drinker (a common cause of pancreatitis).
The first referral to genetics came from her primary care provider in internal medicine. She knew that this woman’s triglyceride levels were not responding to treatment and that other family members had similar problems. Her doctor thought that she might have a condition called familial hypertriglyceridemia, which is an inherited condition that causes affected individuals to have very high triglyceride levels.
The next provider to recognize that this woman may benefit from a genetics evaluation came from endocrinology. The woman was seen in this department to control her diabetes. The provider used this information and findings on physical exam to suggest a condition called familial partial lipodystrophy.
Familial partial lipodystrophy is a condition that affects how the body stores fat. Typically, fat is found in many parts of the body and is used for energy and cushioning. In people with a lipodystrophy, this fat is stored in the abdomen and around the face and neck. It cannot be stored in the arms, legs, and hips, which causes a very muscular appearance. This leads to other health problems like diabetes, high triglycerides, pancreatitis, fatty liver, cysts on the ovaries and infertility.
Familial partial lipodystrophy is very rare and is estimated to affect 1 in 1 million people. Only about 500 cases of the most common type have been reported.
Almost all of these health problems affected this woman, and a physical exam by a geneticist confirmed abnormal fat storage. By confirming that she likely has a lipodystrophy, the woman finally has a name for her health problems, and her providers know what treatment might work best for her.
Genetics is becoming a bigger part of patient care. When we combine our information and recommendations to that of providers in every area, we can offer more personalized care and improve outcomes.
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