The American Association of Clinical Endocrinologists has issued a consensus statement that outlines criteria for increasing the detection of lipodystrophy, a rare syndrome that has intrigued researchers for decades.
“As opposed to more common metabolic disorders such as type 2 diabetes mellitus, lipodystrophy is such an uncommon condition that it is not unusual for patients to escape diagnosis until late in the course of their disease,” Yehuda Handelsman, MD, FACE, FACP, FLNA, co-chair of the AACE task force and lead author of the consensus statement, said in a press release. “Thus, our statement examines the various types and clinical presentations of lipodystrophy to improve detection of the disease and help the clinician identify people whose lipodystrophy may not be visually apparent to ensure patients receive appropriate workup and management.”
Due to the rarity of the condition, the researchers wrote that evidence on lipodystrophy is less conclusive compared with more common metabolic disorders such as type 2 diabetes. It is characterized by regional or total selective loss or absence of subcutaneous fat and can occur in the presence or absence of metabolic abnormalities, with a variety of clinical presentations.
Lipodystrophy can be categorized based on the extent or pattern of fat loss (generalized or partial) and whether the disease is acquired or genetic, researchers wrote. The condition has been divided into four subtypes: congenital generalized lipodystrophy; acquired generalized lipodystrophy; familial partial lipodystrophy; and acquired partial lipodystrophy. Although some forms of the condition can be more present at a very young age, some forms can be underdiagnosed.
According to another task force member, George Grunberger, MD, FACP, FACE, some forms of lipodystrophy can resemble other metabolic conditions.
“It is a very unusual, rare condition characterized by insulin resistance, central obesity, dyslipidemia, high triglycerides, low HDL cholesterol, hypertension and obviously high inappropriate insulin levels. And a lot of times these patients will have non-alcoholic fatty liver disease. There may be some overlap in lab tests,” Grunberger told Endocrine Today.
There’s no lab for testing the condition, and because of the four subtypes, diagnosis is even more difficult, he said.
“The dilemma is that we have no clue as to what the prevalence or incidence is. We need to first alert the clinical community to begin examining patients more carefully in order to recognize this,” Grunberger said. “It can be addressed, but if you don’t know how to diagnose it, obviously you can’t treat it. For example, if a doctor sees a patient who doesn’t get undressed, they may not even know they have an issue.”
The metabolic abnormalities associated with this condition are very severe, Grunberger said, but one treatment has shown promise. Leptin replacement therapy has been investigated and associated with sustained reductions in triglycerides, total cholesterol and HbA1c levels. Currently, metreleptin, a human leptin analogue, is under review by the FDA, researchers wrote.
“While it’s not something every practice should be doing, clinicians across the country should be trained to recognize and refer these patients to specialized centers. Somehow we need to get the word out that this is diagnosable and treatable,” Grunberger said. – bySamantha Costa
Disclosure:Grunberger reports various financial ties with AstraZeneca, Bristol-Myers Squibb, Eli Lilly, GlaxoSmithKline, Johnson & Johnson, Merck & Co, Novo Nordisk, Sanofi-Aventis and Takeda.Handelsman reports various financial ties with AstraZeneca, Boehringer Ingelheim, Bristol-Myers Squibb, Daiichi Sankyo, Genentech, Gilead, GlaxoSmithKline, Merck & Co, Novo Nordisk, Sanofi-Aventis, Takeda, Tolerx and Xoma. See the consensus statement for a full list of disclosures.