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
...gnosis...
...s of lipodystrophy is based on history,...
...ere are no defined serum leptin levels that...
...matory genetic testing is helpful in suspected fam...
...testing should be considered in at-risk...
...complement levels and autoantibodies...
...abetes...
...s screening should be performed annually....
...slipidemia
...cerides should be measured at least...
...anel (total cholesterol, low density lipoprotei...
...iver Disease...
...lanine aminotransferase (ALT) and asp...
...ltrasound should be performed at diagnosis, then...
...biopsy should be performed as clinically in...
...eproductive Dysfun...
...l steroids, gonadotropins, and pelvic...
...g should be performed annually in childre...
...iac Disease...
...should be measured at least annually. ( C...
...am and echocardiogram should be performed...
...ischemia and rhythm monitoring should be con...
...ney Disease...
Urine protein should be measured annually using...
...1. Physical Appearance of Patients With the...
...tic Approach to Lipodystrophy SyndromesHaving tr...
...gnostic Approach to Lipodystrophy S...
...2. Subtypes and Inheritance of Lipo...
...Comorbidities and Complications of L...
...al Features That Increase the Suspicion of...
Treatment
Treatmen...
Die...
...patients should follow diets with balanced macron...
...stricted diets improve metabolic abnormalities, an...
...ry low fat diets should be used in chyl...
...ician should be consulted for specialized dieta...
...in triglyceride (MCT) oil formulas can prov...
...ercise
...ts with lipodystrophy should be encouraged to exe...
...releptin...
...d lipodystrophy, metrerleptin (with diet) is...
...may be considered for hypoleptinemic (l...
...iabetes
...formin is a first-line agent for diabetes and in...
...sulin is effective for hyperglycem...
...olidinediones may improve metabolic complication...
...yslipidemia
...should be used concomitantly with lifes...
...and/or long-chain omega-3 fatty acids should be...
...rtension...
...ngiotensin converting enzyme (ACE)-inhibi...
...ion and Hormone Replacement Therapy...
...ns are contraindicated. (C, IIa)7...
...ption is needed, progestin-only or...
...replacement is needed, transdermal estrogen...
Pregna...
...ents should receive prenatal care f...
...atient become pregnant while taking metrerlepti...