Lipodystrophy Syndromes
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
...agnosi...
...podystrophy is based on history, physical ex...
...e no defined serum leptin levels that establish...
...ry genetic testing is helpful in suspect...
...should be considered in at-risk fam...
...m complement levels and autoantibodies may...
...abetes
...ing should be performed annually. (C)701...
...yslipidemi...
...des should be measured at least annually and...
...g lipid panel (total cholesterol, lo...
Liver Disease
...anine aminotransferase (ALT) and as...
...ound should be performed at diagnosis, then as...
...sy should be performed as clinically indicated....
...ctive Dysfunction
...steroids, gonadotropins, and pelvic ultrasonogra...
Pubertal staging should be performed annuall...
...diac Disease
...should be measured at least annually. ( C ,...
...ctrocardiogram and echocardiogram s...
...aluation for ischemia and rhythm monitor...
...idney Dise...
...protein should be measured annually using...
...sical Appearance of Patients With th...
...stic Approach to Lipodystrophy SyndromesHaving...
.... Diagnostic Approach to Lipodystrophy Synd...
...btypes and Inheritance of LipodystrophyHaving tro...
...jor Comorbidities and Complications of Lipody...
...Clinical Features That Increase the Suspicio...
Treatment
...eatment...
Diet
...should follow diets with balanced macronutrient co...
...y restricted diets improve metabolic abnorm...
...at diets should be used in chylomicr...
A dietician should be consulted for speci...
...riglyceride (MCT) oil formulas can provide e...
Exerci...
...ts with lipodystrophy should be encouraged to exer...
Metrelept...
...ed lipodystrophy, metrerleptin (with diet) is...
...rerleptin may be considered for hypoleptin...
Diabete...
...ormin is a first-line agent for diabetes and insul...
...ctive for hyperglycemia. In some patients...
...iazolidinediones may improve metabolic co...
...slipidemia...
...d be used concomitantly with lifestyle mod...
...brates and/or long-chain omega-3 fatty...
...pertension...
...converting enzyme (ACE)-inhibitors...
...traception and Hormone Replace...
...are contraindicated. (C, IIa)701...
If contraception is needed, proges...
If estrogen replacement is needed, transde...
Pregnanc...
...patients should receive prenatal care from...
...become pregnant while taking metrerle...