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Lipodystrophy, Acquired Partial: Differential Diagnoses & Workup

Author: George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
Coauthor(s): Robert A Gabbay, MD, PhD, Associate Professor of Medicine, Division of Endocrinology, Diabetes and Metabolism, Laurence M Demers Career Development Professor, Penn State College of Medicine; Director, Diabetes Program, Penn State Milton S Hershey Medical Center; Executive Director, Penn State Institute for Diabetes and Obesity
Contributor Information and Disclosures

Updated: Jun 18, 2008

Differential Diagnoses

Lipodystrophy, Generalized
Lipodystrophy, Localized

Other Problems to Be Considered

Because of the variable patterns of lipodystrophy in these patients, several other syndromes should be considered in the differential diagnoses of acquired partial lipodystrophy, including the following:

  • Idiopathic localized lipodystrophy
  • Familial partial lipodystrophy
  • Drug-induced lipodystrophy
  • Human immunodeficiency virus 1 (HIV-1) – related lipodystrophy9,15
  • Acute panniculitis
  • SHORT syndrome (short stature, hyperextensibility of joints, ocular depression, Reiger [ocular and dental] anomaly, teething delay)9
  • Werner syndrome
  • Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome)
  • Leprechaunism (Donohue syndrome)
  • Mandibuloacral dysplasia

Workup

Laboratory Studies

The diagnosis of the disease is mainly clinical (see the list of diagnostic criteria). The laboratory workup is needed primarily to investigate for the presence of associated disorders (metabolic, autoimmune, and renal diseases).

  • Every patient should have a fasting blood glucose and lipid profile, creatinine evaluation, and urinalysis for protein content at the first visit, after which he/she should have these tests on a regular basis.
  • Although uncommon, lipid abnormalities can occur in the form of raised triglyceride levels and low high-density lipoprotein (HDL) cholesterol levels. 
  • Patients usually have decreased serum C3 levels, normal levels of C1 and C4, and high levels of C3NeF (autoantibody), which may indicate the presence of renal involvement.
  • Antinuclear antibodies (ANA) and anti–double-stranded deoxyribonucleic acid (DNA) antibodies have reportedly been observed in some patients with acquired partial lipodystrophy.
  • A genetic workup should be performed if the familial form of lipodystrophy is suggested.

Laboratory work for associated diseases includes the following:

  • Metabolic disease - Fasting glucose, glucose tolerance test, lipid profile, and fasting insulin to characterize the insulin resistance state; free testosterone (in women) to look for polycystic ovary syndrome
  • Autoimmune disease - ANA, anti–double-stranded DNA, rheumatoid factor, thyroid antibodies, C3, and C3NeF

Imaging Studies

As a confirmatory test, whole-body MRI usually clearly demonstrates the extent of lipodystrophy. MRI is not recommended on a routine basis.

Procedures

Renal biopsy is the test of choice to help diagnose the type of renal impairment in these patients. A transcutaneous procedure performed under ultrasonographic guidance, it is used to obtain renal tissue using a fine needle. Nephrologists should direct this procedure.

Histologic Findings

Under light microscopy, biopsy specimens of affected areas show a loss of subcutaneous fat; relative adipocyte volume is reduced to 65% of baseline. Lipocytes are usually atrophic or are reduced in number. No infiltrates with lymphocytes have been reported.

More on Lipodystrophy, Acquired Partial

Overview: Lipodystrophy, Acquired Partial
Differential Diagnoses & Workup: Lipodystrophy, Acquired Partial
Treatment & Medication: Lipodystrophy, Acquired Partial
Follow-up: Lipodystrophy, Acquired Partial
Multimedia: Lipodystrophy, Acquired Partial
References
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References

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Further Reading

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Keywords

Barraquer-Simons syndrome, Barraquer disease, Simons disease, cephalothoracic lipodystrophy, acquired partial lipodystrophy, fat loss, fat hypertrophy, adipocyte lysis, lipohypertrophy, mesangiocapillary glomerulonephritis, membranoproliferative glomerulonephritis, systemic lupus erythematosus, SLE, dermatomyositis, hypothyroidism, pernicious anemia, PA, celiac disease, dermatitis herpetiformis, rheumatoid arthritis, RA, temporal arteritis, leukocytoclastic vasculitis, complement anomaly, complement abnormality, autoimmune process, autoimmune disease

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Contributor Information and Disclosures

Author

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Gabbay, MD, PhD, Associate Professor of Medicine, Division of Endocrinology, Diabetes and Metabolism, Laurence M Demers Career Development Professor, Penn State College of Medicine; Director, Diabetes Program, Penn State Milton S Hershey Medical Center; Executive Director, Penn State Institute for Diabetes and Obesity
Robert A Gabbay, MD, PhD is a member of the following medical societies: American Association of Clinical Endocrinologists, American Diabetes Association, and Endocrine Society
Disclosure: Pfizer, Novo Nordisk, Merck Honoraria Speaking and teaching

Medical Editor

Amir E Harari, MD, Staff Physician, Endocrinology Division, Instructor, Department of Clinical Medicine, Naval Medical Center at San Diego
Amir E Harari, MD is a member of the following medical societies: Alpha Omega Alpha, American Association of Clinical Endocrinologists, American College of Physicians, and Endocrine Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS, Affiliate Research Professor, Bioinformatics and Computational Biology Program, School of Computational Sciences, George Mason University; Principal, C/A Informatics, LLC
Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Endocrinology, American College of Nutrition, American College of Physician Executives, American College of Physicians, American College of Physicians-American Society of Internal Medicine, American Medical Informatics Association, American Society for Bone and Mineral Research, American Society of Law Medicine and Ethics, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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