Lipodystrophy Syndromes

Publication Date: October 1, 2016

Key Points

Key Points

  • Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis.
  • Lipodystrophy syndromes are heterogeneous, and are diagnosed by clinical phenotype, supplemented by genetic testing in certain forms.
  • Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually.
  • Diet is essential for management of metabolic complications of lipodystrophy. Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy, and selected patients with partial lipodystrophy.
  • Other treatments not specific for lipodystrophy may be helpful as well (e.g., metformin for diabetes, statins or fibrates for hyperlipidemia).
  • Oral estrogens are contraindicated.

Recommendations of the committee were graded using the system of the American Heart Association. Expert opinion was used when published data were not available or scarce. See Table 5 for definition of Class of Recommendations and Level of Evidence.


Diagnosis

...gnosis

...nosis of lipodystrophy is based on...

...are no defined serum leptin levels that establi...

...atory genetic testing is helpful in suspected...

...ic testing should be considered in at...

...um complement levels and autoantibodies...


...iabete...

...screening should be performed annually...


...slipidemia...

...hould be measured at least annually and wit...

...nel (total cholesterol, low density lipoprotein-c...


...ver Diseas...

...ine aminotransferase (ALT) and aspa...

...er ultrasound should be performed at diagn...

...iopsy should be performed as clinically...


...productive Dysfu...

..., gonadotropins, and pelvic ultrasonog...

...taging should be performed annually in c...


Cardiac Dis...

...hould be measured at least annually. (...

...m and echocardiogram should be performed an...

...for ischemia and rhythm monitoring should...


...idney Disease

...protein should be measured annually using 24 ho...


...1. Physical Appearance of Patients With the Four...


...Diagnostic Approach to Lipodystrophy Syn...


.... Diagnostic Approach to Lipodystrophy Syndromes...


...pes and Inheritance of LipodystrophyHaving t...


...Comorbidities and Complications of...


...linical Features That Increase the S...


Treatment

...atment...

...iet...

Most patients should follow diets wit...

...ricted diets improve metabolic abnormali...

...iets should be used in chylomicronemia-...

...should be consulted for specialized dietary n...

...um chain triglyceride (MCT) oil formulas c...


...xercise

...lipodystrophy should be encouraged to...


Metreleptin

...ized lipodystrophy, metrerleptin (wit...

...may be considered for hypoleptinemic (leptin...


...iabete...

...a first-line agent for diabetes and ins...

...is effective for hyperglycemia. In some patients...

...idinediones may improve metabolic comp...


...yslipidem...

...hould be used concomitantly with lifestyle mo...

...r long-chain omega-3 fatty acids s...


...ypertensi...

...otensin converting enzyme (ACE)-inhibi...


...eption and Hormone Replacement Therapy...

...l estrogens are contraindicated. (C, IIa)701

...ion is needed, progestin-only or nonhor...

...n replacement is needed, transdermal estr...


...egnancy...

...nt patients should receive prenatal care from...

...d a patient become pregnant while taking met...