Progressive Lipodystrophy 

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD   more...
 
Updated: May 27, 2011
 

Background

Lipodystrophy syndromes represent a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from the subcutaneous compartment and occasionally from visceral fat.[1] Subcutaneous loss of fat can occur as generalized or partial lipodystrophy; the latter is more common. Progressive lipodystrophy is the most common type of partial lipodystrophy. The other types, such as the Kobberling-Dunnigan variety or the familial mandibuloacral dysplasia syndrome, may be familial and tend to be associated with metabolic anomalies such as glucose intolerance and hypertriglyceridemia. Acquired partial lipodystrophy is a rare condition of unknown etiology characterized by progressive loss of fat of the face, neck, trunk, and upper extremities beginning during childhood and is more common in girls.{{Ref36}

Progressive lipodystrophy is a rare condition that typically affects children and young adults. The first case was described by Mitchell in 1886,[2] and later cases were described by Barraquer in 1907 and Simons in 1911. The onset is usually insidious with the slow, progressive disappearance of subcutaneous fat involving the upper half of the body. The predictive progression of the disease from the face to the neck, upper extremities, and trunk (sparing the buttocks and lower limbs) is characteristic. Associated hypocomplementemia, glomerulonephritis, and autoimmune disorders are frequently present in some patients. However, some forms of partial lipodystrophy in children do not seem to fit the diagnostic criteria for any of the established lipodystrophy subset.[3]

Next

Pathophysiology

The etiology of this condition is obscure. Lipodystrophy is often associated with glomerulonephritis, low C3 serum complement levels, and the presence of a C3 nephritic factor. C3 nephritic factor is a serum immunoglobulin G that interacts with the C3bBb alternative pathway convertase to activate C3.

C3 nephritic factor induces the lysis of adipocytes that secrete adipsin, a product identical to complement factor D. The distribution of the lipoatrophy is postulated to be dictated by the variable amounts of adipsin secreted by the adipocytes at different locations.

Human PTRF mutations may cause secondary deficiency of caveolins, resulting in generalized lipodystrophy in association with in muscular dystrophy.[4]

Previous
Next

Epidemiology

Frequency

International

Progressive lipodystrophy is rare, with fewer than 200 cases reported in the world literature since the first case was reported in 1885.[5]

Mortality/Morbidity

Acquired progressive lipodystrophy is a nonfatal condition, but it is frequently associated with mesangiocapillary glomerulonephritis, which can lead to renal insufficiency. In pregnancy, more severe renal disease is associated with a risk of intrauterine growth retardation, prematurity, and fetal death.[6] Associated autoimmune disorders are also present in some patients, including systemic lupus erythematosus and dermatomyositis.

Race

No racial predilection is reported for progressive lipodystrophy.

Sex

Progressive lipodystrophy is 4-5 times more common in women than in men. Of patients with progressive lipodystrophy, 80% are females. The accumulation of fat in the buttocks and lower limbs occurs almost exclusively in females. Males who are affected usually have lipoatrophy without lower body hypertrophy.

Age

Progressive lipodystrophy typically starts in individuals aged 0-20 years, with most cases starting before individuals are aged 15 years. Progressive lipodystrophy tends to develop earlier in most male patients compared with female patients.

Previous
Proceed to Clinical Presentation
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Geover Fernandez, MD, FAAD  Staff Physician, Department of Dermatology, University of Medicine and Dentistry New Jersey, New Jersey Medical School

Geover Fernandez, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and American Society for MOHS Surgery

Disclosure: Nothing to disclose.

Isabelle Thomas, MD  Associate Professor, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School; Chief of Dermatology Service, Veterans Affairs Medical Center of East Orange

Isabelle Thomas, MD is a member of the following medical societies: American Academy of Dermatology and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

David P Fivenson, MD  Associate Director, St Joseph Mercy Hospital Dermatology Program, Ann Arbor, Michigan

David P Fivenson, MD is a member of the following medical societies: American Academy of Dermatology, Medical Dermatology Society, Michigan Dermatological Society, Michigan State Medical Society, Photomedicine Society, Society for Investigative Dermatology, and Wound Healing Society

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Lester F Libow, MD  Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References

  1. Yavuz S, Acarturk TO. Acquired partial lipodystrophy with C3 hypocomplementemia and antiphospholipid and anticardiolipin antibodies. Pediatr Dermatol. Sep-Oct 2010;27(5):504-8. [Medline].

  2. Herranz P, de Lucas R, Perez-España L, Mayor M. Lipodystrophy syndromes. Dermatol Clin. Oct 2008;26(4):569-78, ix. [Medline].

  3. Mitchell SW. Singular case of absence of adipose matter in the upper half of the body. Am J Med Sci. 1885;90:105-106.

  4. Maffeis L, Vercellesi P, Corona F, Forzenigo L, Gelmetti C. Acquired acral lipodystrophy in a 6-year-old girl. Pediatr Dermatol. Sep-Oct 2009;26(5):566-8. [Medline].

  5. de Haan W. Lipodystrophy and muscular dystrophy caused by PTRF mutations. Clin Genet. May 2010;77(5):436-7. [Medline].

  6. Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A. Two new cases of Barraquer-Simons syndrome. Am J Med Genet A. May 1 2004;126A(4):427-9. [Medline].

  7. Haxton MJ. Progressive partial lipodystrophy in association with intrauterine death and growth retardation. Am J Obstet Gynecol. Dec 1 1983;147(7):837-8. [Medline].

  8. Fukumoto D, Kubo Y, Saito M, Arase S. Centrifugal lipodystrophy of the scalp presenting with an arch-form alopecia: a 10-year follow-up observation. J Dermatol. Sep 2009;36(9):499-503. [Medline].

  9. Kurugol Z, Ulger Z, Berk O, Tugral O. Acquired partial lipodystrophy associated with varicella. Turk J Pediatr. Nov-Dec 2009;51(6):617-20. [Medline].

  10. Spranger S, Spranger M, Tasman AJ, Reith W, Voigtlander T, Voigtlander V. Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes. Am J Med Genet. Sep 5 1997;71(4):397-400. [Medline].

  11. Hagari Y, Sasaoka R, Nishiura S, Ishihara M, Mihara M, Shimao S. Centrifugal lipodystrophy of the face mimicking progressive lipodystrophy. Br J Dermatol. Oct 1992;127(4):407-10. [Medline].

  12. Coessens BC, Van Geertruyden JP. Simultaneous bilateral facial reconstruction of a Barraquer-Simons lipodystrophy with free TRAM flaps. Plast Reconstr Surg. Apr 1995;95(5):911-5. [Medline].

  13. Serra JM, Ballesteros A, Mesa F, Bazan A, Paloma V, Sanz J. Use of the temporal muscle flap in Barraquer-Simon's progressive lipodystrophy. Ann Plast Surg. Feb 1993;30(2):180-2. [Medline].

  14. Chong AY, Lupsa BC, Cochran EK, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia. Sep 2 2009;[Medline].

  15. Font J, Herrero C, Bosch X, Cervera R, Ingelmo M, Mascaro JM. Systemic lupus erythematosus in a patient with partial lipodystrophy. J Am Acad Dermatol. Feb 1990;22(2 Pt 2):337-40. [Medline].

  16. Quecedo E, Febrer I, Serrano G, Martinez-Aparicio A, Aliaga A. Partial lipodystrophy associated with juvenile dermatomyositis: report of two cases. Pediatr Dermatol. Nov-Dec 1996;13(6):477-82. [Medline].

  17. Fitch N, Tulandi T. Progressive partial lipodystrophy and third-trimester intrauterine fetal death. Am J Obstet Gynecol. May 1987;156(5):1195-6. [Medline].

  18. Greene AK. Lluis Barraquer-Roviralta (1855-1928): Spanish neurologist described progressive lipodystrophy. Plast Reconstr Surg. Jan 2001;107(1):158-62. [Medline].

  19. Halazonetis J. A case of progressive lipodystrophy. Barraquer-Simon's disease. Br J Oral Surg. Nov 1968;6(2):130-3. [Medline].

  20. Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet. Aug 2006;79(2):383-9. [Medline].

  21. Ketterings C. Lipodystrophy and its treatment. Ann Plast Surg. Dec 1988;21(6):536-43. [Medline].

  22. Levy Y, George J, Yona E, Shoenfeld Y. Partial lipodystrophy, mesangiocapillary glomerulonephritis, and complement dysregulation. An autoimmune phenomenon. Immunol Res. Aug 1998;18(1):55-60. [Medline].

  23. Mathieson PW, Wurzner R, Oliveria DB, Lachmann PJ, Peters DK. Complement-mediated adipocyte lysis by nephritic factor sera. J Exp Med. Jun 1 1993;177(6):1827-31. [Medline].

  24. McNeill AD. Progressive lipodystrophy. Br J Surg. Mar 1966;53(3):216-8. [Medline].

  25. Perrot H, Delaup JP, Chouvet B. [Barraquer and Simons lipodystrophy. Complement anomalies and cutaneous leukocytoclasic vasculitis]. Ann Dermatol Venereol. 1987;114(9):1083-91. [Medline].

  26. [Guideline] Polsky B, Kotler D, Steinhart C. HIV-associated wasting in the HAART era: guidelines for assessment, diagnosis, and treatment. AIDS Patient Care STDS. Aug 2001;15(8):411-23. [Medline].

  27. Pope E, Janson A, Khambalia A, Feldman B. Childhood acquired lipodystrophy: a retrospective study. J Am Acad Dermatol. Dec 2006;55(6):947-50. [Medline].

  28. Requena Caballero C, Angel Navarro Mira M, Bosch IF, Bauxauli JM, Aliaga Boniche A. Barraquer-Simons lipodystrophy associated with antiphospholipid syndrome. J Am Acad Dermatol. Oct 2003;49(4):768-9. [Medline].

  29. Rifkind BM, Boyle JA, Gale M. Blood lipid levels, thyroid status, and glucose tolerance in progressive partial lipodystrophy. J Clin Pathol. Jan 1967;20(1):52-5. [Medline].

  30. Sissons JG, West RJ, Fallows J, et al. The complement abnormalities of lipodystrophy. N Engl J Med. Feb 26 1976;294(9):461-5. [Medline].

  31. Smak Gregoor PJ, van Bommel EF, Ketterings C, van Saase JL, Kramer P. Progressive lipodystrophy, a diagnosis at a glance. Nephrol Dial Transplant. Feb 1998;13(2):507-9. [Medline].

  32. Sonnino M, Ribuffo D, Piovano L, Cigna E, Scuderi N. [Nonprogressive, late-onset atrophy of the cheek]. Minerva Chir. Dec 2000;55(12):881-5. [Medline].

  33. Van Etten E, Branisteanu DD, Overbergh L, Bouillon R, Verstuyf A, Mathieu C. Combination of a 1,25-dihydroxyvitamin D3 analog and a bisphosphonate prevents experimental autoimmune encephalomyelitis and preserves bone. Bone. Apr 2003;32(4):397-404. [Medline].

  34. Walport MJ, Davies KA, Botto M, et al. C3 nephritic factor and SLE: report of four cases and review of the literature. QJM. Oct 1994;87(10):609-15. [Medline].

  35. Williams DG. C3 nephritic factor and mesangiocapillary glomerulonephritis. Pediatr Nephrol. Feb 1997;11(1):96-8. [Medline].

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.