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
...iagnosi...
...odystrophy is based on history, physi...
...defined serum leptin levels that establish o...
...y genetic testing is helpful in suspected famil...
...should be considered in at-risk f...
...lement levels and autoantibodies may support diagn...
...abetes...
...s screening should be performed annuall...
...slipidem...
...rides should be measured at least annua...
...id panel (total cholesterol, low density lipop...
...iver Diseas...
...aminotransferase (ALT) and aspartate aminotransf...
...asound should be performed at diagnos...
...r biopsy should be performed as clinically ind...
...oductive Dysfunct...
...nadal steroids, gonadotropins, and pelvic...
...ubertal staging should be performe...
Cardiac Disease
...hould be measured at least annually...
...gram and echocardiogram should be perform...
...luation for ischemia and rhythm monitoring shoul...
Kidney Disea...
...should be measured annually using 24 hour urine c...
...hysical Appearance of Patients With...
...1. Diagnostic Approach to Lipodystrophy Syndromes...
...gure 2. Diagnostic Approach to Lipodystrophy...
...Subtypes and Inheritance of Lipodystro...
.... Major Comorbidities and Complicat...
.... Clinical Features That Increase th...
Treatment
...eatment
...iet
...ost patients should follow diets with...
...nergy restricted diets improve metabolic abn...
...iets should be used in chylomicronemia-induce...
...ietician should be consulted for spe...
...riglyceride (MCT) oil formulas can provide energy...
...ercise...
...nts with lipodystrophy should be encourag...
...etrelept...
...eneralized lipodystrophy, metrerleptin (wit...
...etrerleptin may be considered for hypoleptinemic (...
...abetes...
...a first-line agent for diabetes and insu...
Insulin is effective for hyperglycemia. In som...
Thiazolidinediones may improve meta...
...lipidemia...
...hould be used concomitantly with lifestyle mo...
...long-chain omega-3 fatty acids should b...
...rtension
...converting enzyme (ACE)-inhibitors or angiotensin...
...and Hormone Replacement Therapy...
...ral estrogens are contraindicated....
If contraception is needed, progestin-only or...
...lacement is needed, transdermal estrogen sh...
...regnan...
...nant patients should receive prenatal care from a...
...a patient become pregnant while takin...