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
...Diag...
Diagnosis of lipodystrophy is based on history, p...
There are no defined serum leptin levels...
...onfirmatory genetic testing is helpful i...
...enetic testing should be considered...
...rum complement levels and autoantibodies ma...
...screening should be performed annually. (...
...Dyslip...
...rides should be measured at least annually an...
...panel (total cholesterol, low densit...
...Liver Disease...
...aminotransferase (ALT) and aspartate aminotransf...
...nd should be performed at diagnosis, the...
...er biopsy should be performed as clini...
...Reproductive Dysf...
...s, gonadotropins, and pelvic ultrasonograp...
...ng should be performed annually in...
...Cardiac Disease...
...should be measured at least annually. ( C , I...
...ocardiogram and echocardiogram should...
...ation for ischemia and rhythm monitoring should...
...ine protein should be measured ann...
...1. Physical Appearance of Patients With the F...
.... Diagnostic Approach to Lipodystrop...
...stic Approach to Lipodystrophy Syn...
...es and Inheritance of Lipodystrophy...
...r Comorbidities and Complications of Lipodys...
...nical Features That Increase the Suspicion of...
Treatment
...Treatmen...
...Diet...
...ients should follow diets with balanced...
...ricted diets improve metabolic abnor...
...ery low fat diets should be used in chylomicro...
...should be consulted for specialized d...
...chain triglyceride (MCT) oil formulas ca...
...Exerci...
...h lipodystrophy should be encouraged to e...
...Metrele...
...n generalized lipodystrophy, metrerleptin (w...
...y be considered for hypoleptinemic (lept...
...Diabetes...
...min is a first-line agent for diabetes...
...n is effective for hyperglycemia. In some pat...
...ediones may improve metabolic complications...
...Dyslipid...
...d be used concomitantly with lifestyle modi...
...r long-chain omega-3 fatty acids should be use...
...Hypertensio...
...nsin converting enzyme (ACE)-inhibitors or ang...
...Contrac...
...ns are contraindicated. (C, IIa)701...
...ion is needed, progestin-only or nonhormonal con...
...f estrogen replacement is needed, transderma...
...Pre...
...egnant patients should receive prenatal care fro...
...ent become pregnant while taking metrerlept...