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...
...gnosis of lipodystrophy is based on histo...
...re are no defined serum leptin lev...
...netic testing is helpful in suspected fami...
...ng should be considered in at-risk family m...
...nt levels and autoantibodies may support diag...
...abetes...
...ening should be performed annually. (...
Dyslipidem...
...should be measured at least annually and with o...
...lipid panel (total cholesterol, low density lipop...
...r Disease...
...aminotransferase (ALT) and aspartate aminotransf...
...er ultrasound should be performed at diagnosis, th...
Liver biopsy should be performed as cli...
...roductive Dysfunct...
...dal steroids, gonadotropins, and pel...
...l staging should be performed annually in...
...rdiac Disease...
...hould be measured at least annually. (...
...ctrocardiogram and echocardiogram s...
...or ischemia and rhythm monitoring shou...
...dney Disea...
...should be measured annually using 24 h...
...cal Appearance of Patients With the Four Main Su...
...able 1. Diagnostic Approach to Lipodystro...
...stic Approach to Lipodystrophy Syndromes...
...2. Subtypes and Inheritance of LipodystrophyHav...
...le 3. Major Comorbidities and Complications of Lip...
...e 4. Clinical Features That Increase the Suspi...
Treatment
...atment...
...iet...
...s should follow diets with balanced macron...
...estricted diets improve metabolic abnormalities,...
...ts should be used in chylomicronem...
...should be consulted for specialized dietary...
...edium chain triglyceride (MCT) oil form...
...xercise
...ients with lipodystrophy should be enc...
...releptin
...lized lipodystrophy, metrerleptin...
...ptin may be considered for hypoleptinemic (lept...
Diabete...
...a first-line agent for diabetes and insuli...
...effective for hyperglycemia. In so...
...zolidinediones may improve metabolic complica...
Dyslipid...
...ould be used concomitantly with lifestyle modi...
...d/or long-chain omega-3 fatty acids should...
...rtension...
...converting enzyme (ACE)-inhibitors or...
Contraception and Hormone Replacemen...
...estrogens are contraindicated. (C, IIa)7...
...contraception is needed, progestin-only or nonho...
...lacement is needed, transdermal es...
Pregnan...
...egnant patients should receive prenatal care...
Should a patient become pregnant wh...