Acquired Partial Lipodystrophy Workup

Updated: Feb 11, 2020
  • Author: George T Griffing, MD; Chief Editor: George T Griffing, MD  more...
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Workup

Laboratory Studies

The diagnosis of acquired partial lipodystrophy (APL) is mainly clinical. 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, and on a regular basis on follow-up.

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. The C3NeF is not always present, however. [28, 29]

Antinuclear antibodies (ANA), anti–double-stranded deoxyribonucleic acid (DNA), antiphospholipid, and anticardiolipin antibodies have reportedly been observed in some patients with APL. [30]

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

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Imaging Studies

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

In a study of 7 patients with acquired partial lipodystrophy, whole-body MRI revealed adipose tissue was absent from the scalp, masticator, para-pharyngeal regions, and earlobes of all patients and was significantly reduced in extent in the buccal region. However, retro-orbital fat was preserved. All patients lacked adipose tissue in the palms and breasts. Adipose tissue was present, but reduced in extent, in the soles and external genitalia. [31]

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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.

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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.

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