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

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]

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.

Treatment & Management

Haque WA, Shimomura I, Matsuzawa Y, Garg A. Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab. 2002 May. 87(5):2395. [QxMD MEDLINE Link].
Capeau J, Magre J, Caron-Debarle M, et al. Human lipodystrophies: genetic and acquired diseases of adipose tissue. Endocr Dev. 2010. 19:1-20. [QxMD MEDLINE Link]. [Full Text].
Oliveira J, Freitas P, Lau E, Carvalho D. Barraquer-Simons syndrome: a rare form of acquired lipodystrophy. BMC Res Notes. 2016 Mar 18. 9:175. [QxMD MEDLINE Link]. [Full Text].
Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore). 2004 Jan. 83(1):18-34. [QxMD MEDLINE Link].
Caramaschi P, Biasi D, Lestani M, Chilosi M. A case of acquired partial lipodystrophy associated with POEMS syndrome. Rheumatology (Oxford). 2003 Mar. 42(3):488-90. [QxMD MEDLINE Link].
Cronin CC, Higgins TJ, Molloy M. Lupus, C3 nephritic factor and partial lipodystrophy. QJM. 1995 Apr. 88(4):298-9. [QxMD MEDLINE Link].
Walport MJ, Davies KA, Botto M, et al. C3 nephritic factor and SLE: report of four cases and review of the literature. QJM. 1994 Oct. 87(10):609-15. [QxMD MEDLINE Link].
Walker PD. Dense deposit disease: new insights. Curr Opin Nephrol Hypertens. 2007 May. 16(3):204-12. [QxMD MEDLINE Link].
Muto Y, Fujimura T, Kakizaki A, Tsuchiyama K, Kusakari Y, Aiba S. Adult-onset acquired partial lipodystrophy accompanied by rheumatoid arthritis. Case Rep Dermatol. 2015 Jan-Apr. 7 (1):70-4. [QxMD MEDLINE Link].
Sissons JG, West RJ, Fallows J, et al. The complement abnormalities of lipodystrophy. N Engl J Med. 1976 Feb 26. 294(9):461-5. [QxMD MEDLINE Link].
Savage DB, Semple RK, Clatworthy MR, et al. Complement abnormalities in acquired lipodystrophy revisited. J Clin Endocrinol Metab. 2009 Jan. 94(1):10-6. [QxMD MEDLINE Link].
Corvillo F, Lopez-Trascasa M. Acquired partial lipodystrophy and C3 glomerulopathy: dysregulation of the complement system as a common pathogenic mechanism. Nefrologia. 2018 May - Jun. 38(3):258-66. [QxMD MEDLINE Link]. [Full Text].
Kurugol Z, Ulger Z, Berk O, Tugral O. Acquired partial lipodystrophy associated with varicella. Turk J Pediatr. 2009 Nov-Dec. 51(6):617-20. [QxMD MEDLINE Link].
Hegele RA, Cao H, Liu DM, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet. 2006 Aug. 79(2):383-9. [QxMD MEDLINE Link]. [Full Text].
Hegele RA, Joy TR, Al-Attar SA, et al. Thematic review series: adipocyte biology. Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res. 2007 Jul. 48(7):1433-44. [QxMD MEDLINE Link]. [Full Text].
Bhayana S, Hegele RA. The molecular basis of genetic lipodystrophies. Clin Biochem. 2002 May. 35(3):171-7. [QxMD MEDLINE Link].
Gao J, Li Y, Fu X, Luo X. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. J Pediatr Endocrinol Metab. 2012. 25(3-4):375-7. [QxMD MEDLINE Link].
Vigouroux C, Magre J, Vantyghem MC, et al. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes. 2000 Nov. 49(11):1958-62. [QxMD MEDLINE Link].
Worman HJ, Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10. 313(10):2121-33. [QxMD MEDLINE Link]. [Full Text].
Adachi M, Asakura Y, Muroya K, Goto H, Kigasawa H. Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy. Clin Pediatr Endocrinol. 2013 Oct. 22(4):53-64. [QxMD MEDLINE Link]. [Full Text].
Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T. Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature. J Pediatr Endocrinol Metab. 2019 May 27. 32(5):537-41. [QxMD MEDLINE Link].
[Guideline] Brown RJ, Araujo-Vilar D, Cheung PT, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016 Dec. 101(12):4500-11. [QxMD MEDLINE Link]. [Full Text].
Demetriou K, Kallikas I, Zouvani I, et al. The pregnant patient with partial lipodystrophy developing acute renal failure--onset of de novo membranoproliferative glomerulonephritis. Nephrol Dial Transplant. 1998 Aug. 13(8):2121-4. [QxMD MEDLINE Link]. [Full Text].
Meyrier A. The patient with glomerulonephritis and lipodystrophy. Nephrol Dial Transplant. 1997 Jan. 12(1):226-7. [QxMD MEDLINE Link]. [Full Text].
Chopra S, Isaacs R, Mammen K, et al. Renal transplantation in a patient with Barraquer-Simons disease and mesangiocapillary glomerulonephritis type II. Nephrol Dial Transplant. 2000 Oct. 15(10):1723-4. [QxMD MEDLINE Link]. [Full Text].
Biasi D, Caramaschi P, Carletto A, Bambara LM. A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. Rheumatol Int. 1999. 19(1-2):75-6. [QxMD MEDLINE Link].
Garg A. Lipodystrophies. Am J Med. 2000 Feb. 108(2):143-52. [QxMD MEDLINE Link].
Porter WM, O'Gorman-Lalor O, Lane RJ, Francis N, Bunker CB. Barraquer-Simons lipodystrophy, Raynaud's phenomenon and cutaneous vasculitis. Clin Exp Dermatol. 2000 Jun. 25(4):277-80. [QxMD MEDLINE Link].
Oswiecimska J, Ziora K, Geisler G, Dyduch A. Acquired partial lipodystrophy in an 11-year-old girl. Pediatr Int. 2008 Oct. 50(5):714-6. [QxMD MEDLINE Link].
Yavuz S, Acarturk TO. Acquired partial lipodystrophy with C3 hypocomplementemia and antiphospholipid and anticardiolipin antibodies. Pediatr Dermatol. 2010 Sep-Oct. 27(5):504-8. [QxMD MEDLINE Link].
Altay C, Secil M, Demir T, et al. Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. Diagn Interv Radiol. 2017 Nov-Dec. 23(6):428-34. [QxMD MEDLINE Link]. [Full Text].
Guettier JM, Park JY, Cochran EK, et al. Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation. Clin Endocrinol (Oxf). 2008 Apr. 68(4):547-54. [QxMD MEDLINE Link].
Walker UA, Kirschfink M, Peter HH. Improvement of acquired partial lipodystrophy with rosiglitazone despite ongoing complement activation. Rheumatology (Oxford). 2003 Feb. 42(2):393-4. [QxMD MEDLINE Link]. [Full Text].
Sleilati GG, Leff T, Bonnett JW, Hegele RA. Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome. Endocr Pract. 2007 Oct. 13(6):656-61. [QxMD MEDLINE Link].
Nissen SE, Wolski K. Effect of rosiglitazone on the risk of myocardial infarction and death from cardiovascular causes. N Engl J Med. 2007 Jun 14. 356(24):2457-71. [QxMD MEDLINE Link]. [Full Text].
Moran SA, Patten N, Young JR, et al. Changes in body composition in patients with severe lipodystrophy after leptin replacement therapy. Metabolism. 2004 Apr. 53(4):513-9. [QxMD MEDLINE Link].
Chong AY, Lupsa BC, Cochran EK, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia. 2010 Jan. 53(1):27-35. [QxMD MEDLINE Link].
Chan JL, Lutz K, Cochran E, et al. Clinical effects of long-term metreleptin treatment in patients with lipodystrophy. Endocr Pract. 2011 Nov-Dec. 17(6):922-32. [QxMD MEDLINE Link]. [Full Text].
US Food and Drug Administration. BRISTOL-MYERS SQUIBB COMPANY Research and FOOD AND DRUG. Available at http://www.fda.gov/downloads/AdvisoryCommittees/CommitteesMeetingMaterials/Drugs/EndocrinologicandMetabolicDrugsAdvisoryCommittee/UCM377929.pdf. Accessed: 2014.
Al-Attar SA, Pollex RL, Robinson JF, et al. Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. BMC Med Imaging. 2007 Mar 12. 7:3. [QxMD MEDLINE Link]. [Full Text].
Akinci B, Koseoglu FD, Onay H, et al. Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. Metabolism. 2015 Sep. 64(9):1086-95. [QxMD MEDLINE Link].
Guenantin AC, Briand N, Bidault G, et al. Nuclear envelope-related lipodystrophies. Semin Cell Dev Biol. 2014 May. 29:148-57. [QxMD MEDLINE Link].
Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. J Hum Genet. 2014 Jan. 59(1):16-23. [QxMD MEDLINE Link].
Payapvipapong K, Niumpradit N, Nakakes A, Buranawuti K. A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma. Int J Dermatol. 2014 Jan. 53(1):82-4. [QxMD MEDLINE Link].
Corvillo F, Ceccarini G, Nozal P, et al. Immunological features of patients affected by Barraquer-Simons syndrome. Orphanet J Rare Dis. 2020 Jan 10. 15(1):9. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Fat distribution in acquired partial lipodystrophy.
Model of the adipocyte destruction in acquired partial lipodystrophy showing complement activation at the adipocyte surface resulting in adipocyte lysis. Adipocytes synthesize C3, factor B, and factor D (adipsin), which allows C3bBb to be formed locally, but which usually does not result in the activation of the terminal lytic part of the complement pathway (C5-9).The IgG antibody, C3NeF, prevents the alternative complement C3-convertase C3Bb from dissociative inactivation, resulting in adipocyte lysis. Adipocytes synthesize factor D, the limiting component of the alternative complement pathway, which cleaves C3-bound factor B to its active enzymatic form. Factor D is expressed to a higher extent in the fat cells of the upper half of the body compared with the lower half, and it is possibly this regional difference that accounts for the restriction of fat loss to the head, arms, and trunk. C3NeF is also associated with type II, dense-deposit membranoproliferative glomerulonephritis in which subendothelial deposits of immunoglobulin and C3 are probably due to a deregulated alternative complement pathway.

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Acquired Partial Lipodystrophy Workup

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

References

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