Lipodystrophy Syndromes

Publication Date: October 1, 2016

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...

...sis of lipodystrophy is based on history,...

...defined serum leptin levels that establi...

...ry genetic testing is helpful in suspecte...

...etic testing should be considered in at-risk fami...

...omplement levels and autoantibodie...


Diabetes

Diabetes screening should be performed annu...


...ipidemia

...ides should be measured at least an...

...id panel (total cholesterol, low densi...


...iver Diseas...

...lanine aminotransferase (ALT) and aspartate am...

...ound should be performed at diagnosis, then a...

...ould be performed as clinically indicated....


...roductive Dysfuncti...

...ds, gonadotropins, and pelvic ultr...

...tal staging should be performed annua...


Cardiac Disease

...od pressure should be measured at least annually....

...cardiogram and echocardiogram should be pe...

Evaluation for ischemia and rhythm monitoring shou...


...ney Disease...

...otein should be measured annually using 24 hour...


Figure 1. Physical Appearance of Patients With th...


...agnostic Approach to Lipodystrophy SyndromesHaving...


...Diagnostic Approach to Lipodystrophy...


...s and Inheritance of LipodystrophyHaving t...


...3. Major Comorbidities and Complications of Lipod...


...4. Clinical Features That Increas...


Treatment

Treatm...

Die...

...ost patients should follow diets w...

...tricted diets improve metabolic abnormalities, an...

...w fat diets should be used in chylomicronem...

...etician should be consulted for speci...

...edium chain triglyceride (MCT) oil formulas can...


...xercis...

...ents with lipodystrophy should be encour...


...treleptin

...ralized lipodystrophy, metrerleptin (w...

...ptin may be considered for hypoleptinemic (le...


...abetes...

Metformin is a first-line agent for diabetes...

...sulin is effective for hyperglycemia....

...lidinediones may improve metabolic complicati...


...ipidemia

...ould be used concomitantly with lifestyle modif...

...s and/or long-chain omega-3 fatty acids sho...


Hypertensio...

...sin converting enzyme (ACE)-inhibitors or ang...


Contraception and Hormone Replacement T...

...estrogens are contraindicated. (C,...

...traception is needed, progestin-only or non...

If estrogen replacement is needed, transder...


...egnancy...

...regnant patients should receive pre...

...atient become pregnant while taking metrerleptin...