Lipodystrophy Syndromes

Publication Date: October 1, 2016
Last Updated: December 16, 2022

Diagnosis

Diagnosis of lipodystrophy is based on history, physical examination, body composition, and metabolic status. ( B , I )
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There are no defined serum leptin levels that establish or rule out the diagnosis of lipodystrophy. ( C , IIa )
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Confirmatory genetic testing is helpful in suspected familial lipodystrophies. ( A , I )
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Genetic testing should be considered in at-risk family members. ( C , IIa )
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Serum complement levels and autoantibodies may support diagnosis of acquired lipodystrophy syndromes. ( B , IIa )
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Diabetes

Diabetes screening should be performed annually. (C)
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Dyslipidemia

Triglycerides should be measured at least annually and with occurrence of abdominal pain or xanthomata. (C)
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Fasting lipid panel (total cholesterol, low density lipoprotein-cholesterol [LDL-C], high density lipoprotein-cholesterol [HDL-C], triglycerides) should be measured at diagnosis and annually after age 10 years. ( C , IIa )
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Liver Disease

Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) should be measured annually. ( C , IIa )
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Liver ultrasound should be performed at diagnosis, then as clinically indicated. ( C , IIa )
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Liver biopsy should be performed as clinically indicated. ( C , IIa )
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Reproductive Dysfunction

Gonadal steroids, gonadotropins, and pelvic ultrasonography should be performed as clinically indicated. ( C , IIa )
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Pubertal staging should be performed annually in children. ( C , IIa )
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Cardiac Disease

Blood pressure should be measured at least annually. ( C , I )
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Electrocardiogram and echocardiogram should be performed annually in congenital generalized lipodystrophy (CGL) and progeroid disorders, and at diagnosis and as clinically indicated in familial partial lipodystrophy (FPLD) and acquired generalized lipodystrophy (AGL). ( C , IIa )
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Evaluation for ischemia and rhythm monitoring should be considered in patients with progeroid disorders and FPLD2 with cardiomyopathy. ( C , IIa )
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Kidney Disease

Urine protein should be measured annually using 24 hour urine collection or spot urine protein to creatinine ratio. ( C , )
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Treatment

Diet

Most patients should follow diets with balanced macronutrient composition. ( C , IIa )
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Energy restricted diets improve metabolic abnormalities, and may be appropriate in adults. ( C , I )
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Very low fat diets should be used in chylomicronemia-induced acute pancreatitis. ( C , I )
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A dietician should be consulted for specialized dietary needs, especially in infants and young children. Overfeeding should be avoided. ( C , IIa )
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Medium chain triglyceride (MCT) oil formulas can provide energy and reduce triglycerides in infants. ( C , IIa )
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Exercise

Patients with lipodystrophy should be encouraged to exercise in the absence of specific contraindications. (C)
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Metreleptin

In generalized lipodystrophy, metrerleptin (with diet) is a first-line treatment for metabolic and endocrine abnormalities (I-B), and may be considered for prevention of these comorbidities in children. (C, IIb)
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Metrerleptin may be considered for hypoleptinemic (leptin <4 ng/mL)
patients with partial lipodystrophy and severe metabolic derangements (HbA1c >8% and/or triglycerides >500 mg/dL). (B, IIb)
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Diabetes

Metformin is a first-line agent for diabetes and insulin resistance. ( C , IIa )
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Insulin is effective for hyperglycemia. In some patients, concentrated preparations and high-doses may be required. ( C , IIa )
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Thiazolidinediones may improve metabolic complications in partial lipodystrophy, but should be used only with caution in generalized lipodystrophy. ( B , IIb )
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Dyslipidemia

Statins should be used concomitantly with lifestyle modification (after consideration of age, reproductive status, and tolerance). (C)
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Fibrates and/or long-chain omega-3 fatty acids should be used for triglycerides >500 mg/dl, and may be considered for triglycerides >200 mg/dL. (C)
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Hypertension

Angiotensin converting enzyme (ACE)-inhibitors or angiotensin receptor blockers (ARB) are first-line treatments for hypertension in patients with diabetes. (C)
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Contraception and Hormone Replacement Therapy

Oral estrogens are contraindicated. ( C , IIa )
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If contraception is needed, progestin-only or nonhormonal contraceptives should be considered. ( C , IIa )
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If estrogen replacement is needed, transdermal estrogen should be used. ( C , IIa )
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Pregnancy

Pregnant patients should receive prenatal care from an obstetrician experienced in managing diabetes, and a physician experienced in managing lipodystrophy. ( C , IIa )
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Should a patient become pregnant while taking metrerleptin, clinicians may consider continuing metrerleptin if withdrawal would harm the mother and fetus and the patient understands that effects of metrerleptin in pregnancy are unknown (FDA category C) and wishes to continue. ( C , )
(IIc)
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Recommendation Grading

Overview

Title

Lipodystrophy Syndromes

Authoring Organization

Publication Month/Year

October 1, 2016

Last Updated Month/Year

March 25, 2024

Document Type

Guideline

External Publication Status

Published

Country of Publication

US

Document Objectives

Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs.

Target Patient Population

Patients with lipodystrophy

Inclusion Criteria

Male, Female, Adolescent, Adult, Child, Infant

Health Care Settings

Ambulatory, Childcare center, Hospital, Outpatient

Intended Users

Nurse, nurse practitioner, physician, physician assistant

Scope

Diagnosis, Treatment, Management

Diseases/Conditions (MeSH)

D003920 - Diabetes Mellitus, D008060 - Lipodystrophy, D015228 - Hypertriglyceridemia, D052497 - Lipodystrophy, Congenital Generalized, D052496 - Lipodystrophy, Familial Partial

Keywords

diabetes mellitus, lipodystrophy, hypertriglyceridemia, familial partial lipodystrophy, congenital generalized lipodystrophy

Source Citation

The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 12, 1 December 2016, Pages 4500–4511, https://doi.org/10.1210/jc.2016-2466

Supplemental Methodology Resources

Data Supplement

Methodology

Number of Source Documents
114
Literature Search Start Date
December 1, 2015
Literature Search End Date
June 23, 2016