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Rare diseases may provide model for treating metabolic syndrome
PHILADELPHIA — For specialists, developing therapies for the most difficult cases is a constant struggle. Nevertheless, diagnosing and treating these patients are more than just challenges; they are opportunities, according to Phillip Gorden, MD.
“The collective experience of so many individuals whom I’ve had the opportunity to work with includes how we’re challenged by patients to develop therapies to make them better, but it also includes how each one of those individuals may be a model system to go further into an area of what we see every day in our clinics,” Gorden, of the National Institute of Diabetes and Digestive and Kidney Diseases of the NIH, said during a presentation at the American Association of Clinical Endocrinologists 21st Annual Scientific and Clinical Congress.
One everyday condition with which endocrinologists struggle is metabolic syndrome. The problem is due, in part, to the constellation of diseases defining metabolic syndrome, including hypertension, dyslipidemia and diabetes.
“Each one of these conditions is essentially silent, meaning that the therapy is important, but there is no uniformity [of treatment],” Gorden said. “One of the main reasons for this is that we really only understand the etiologic basis for any of these syndromes about 10% to 15% of the time.”
Growing experience with patients with other metabolic diseases, however, have opened the door for new discoveries. For example, 80% of patients with lipodystrophy have metabolic syndrome, and research indicates that leptin deficiency represents the common etiologic factor. This information has provided physicians with a unique target for therapy and allowed for the development of leptin as a treatment.
Gorden also addressed the possibility of utilizing existing technologies in novel ways. He offered the example of a patient with type B syndrome of insulin resistance who did not benefit from plasmophoresis, pulsed cyclophosphomide or rituximab. When those were used in tandem, however, the patient improved. Therapies that may have not worked separately in a patient may become effective when combined in a “coherent, organized” fashion, he said. Additionally, carefully assessing the degree of disease helps physicians gauge which treatments and in what combinations and doses will be most successful.
To continue with this progress, Gorden suggested looking at other diseases. Hyperinsulinemia is sufficient, for example, to stimulate production of ovarian growth in polycystic ovary syndrome, he said, and hyperandrogenism is becoming a growing problem in obese children.
“What we can generally conclude from all of this is that it is very important to develop therapies for patients with rare diseases. Rare diseases may provide a model, a mechanism, for therapeutic targets in common diseases,” Gorden said.
“Clinical endocrinologists are challenged by many of the word’s most prevalent and chronic diseases. We must, and will, meet this challenge.”
For more information:
Gorden P. Syndromic insulin resistance: Models for the therapeutic basis of the “metabolic syndrome.” Presented at: the American Association of Clinical Endocrinologists 21st Annual Scientific and Clinical Congress; May 23-27, 2012; Philadelphia.
Disclosure: Dr. Gorden reports no relevant financial disclosures.