Thomas B. Repas, DO, FACP, FACE, CDE, is an endocrinologist, lipidologist and physician nutrition specialist in clinical practice at the Regional Medical Clinic Endocrinology and Diabetes Education Center in Rapid City, SD. Dr. Repas is the former chairman of the professional diabetes advisory committees of the Wyoming and the Wisconsin Diabetes Prevention and Control Programs. He is board certified in the areas of endocrinology, diabetes and metabolism, clinical lipidology, internal medicine and nutrition, and is also a certified diabetes educator.

The many faces of lipodystrophy: Part 2

... Continued from previous blog.

As soon as I entered the room, I recognized immediately that my third patient also had lipodystrophy. Similar to the other two previous patients I had seen earlier in the week, this patient also had type 2 diabetes and dyslipidemia. Unlike them, she had marked loss of subcutaneous fat from her face and upper trunk with increased fat deposition in her abdomen and thighs. Her family history was negative.

This patient had another form of lipodystrophy - acquired partial lipodystrophy, also known as Barraquer-Simons' syndrome. In addition to the changes in fat distribution described above, patients have hyperinsulinemia and occasionally autoimmune disorders such as rheumatoid arthritis, hypothyroidism and pernicious anemia. Some develop membranoproliferative glomerulonephritis, usually within the first 10 years after diagnosis. The cause is not well understood but believed to be due to complement activation and C3 nephritic factor. Typically, acquired partial lipodystrophy develops in childhood or adolescence over a period of months or years. It is more common in females. Acquired partial lipodystrophy is rare, having been reported in only 250 individuals.

During our interview, the patient was in tears at times. She described how she had been ignored by many health care providers as she tried to explain what lipodystrophy was. Some told her it was all in her head. She had been lectured numerous times that she "just needed to diet and exercise more" if she wanted to lose, in her words, her "9-month pregnant stomach."

Since being diagnosed with lipodystrophy in childhood, most of her subsequent health care providers had never heard of lipodystrophy. There was one who read about it, but he erroneously learned only that lipodystrophy could be due to antiretroviral medications in the treatment of HIV and not due to other causes. The patient was relieved to have finally found a physician who knew what lipodystrophy was and who believed that she had it. I, too, was greatly relieved that she had the diagnosis.

The most challenging visits are not always those with patients with real medical diagnoses. The most challenging visits are sometimes those with patients who adamantly believe they have a diagnosis when in fact they do not. When confronted with something unusual and unexplained, many health care practitioners ignore their patients' concerns. Our health care system does not reward one for being thorough, methodical and inquisitive in the evaluation of our patients. Worse, if no obvious diagnosis is found, some practitioners even accuse their patients of having imaginary symptoms. That is never acceptable.

No matter whether we know the reason for our patients' symptoms or not, we must listen with an open and empathetic mind. Far too many medical disorders are undiagnosed for months, or even years, simply because no one bothers to listen.