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Dermatologic Manifestations of Generalized Lipodystrophy Treatment & Management

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 22, 2016
 

Medical Care

Successful treatment of acanthosis nigricans (AN) in association with generalized lipodystrophy was accomplished in 1 patient with etretinate beginning at 75 mg/d.[12] Therapy for AN was undertaken in this patient for cosmetic reasons. After 4 weeks, the cutaneous eruption had disappeared, with only modest elevation of the preexisting hyperlipemia.

Substitution of eucaloric medium-chain triglycerides for long-chain fatty acids in the diet of 1 patient led to improvement of chylomicronemia, xanthomatosis, hypertriglyceridemia, hepatomegaly, carbohydrate tolerance, and hyperinsulinemia, but not lipoatrophy. Dietary fish oil also may be useful in improving AN.

Because conventional lipid-lowering and antihyperglycemic medications may be insufficient to control severe metabolic abnormalities, leptin has been used for severe lipodystrophy and found to significantly improve metabolic abnormalities.[13] This new option for therapy is leptin, an adipocyte hormone, which may improve insulin resistance, hyperglycemia, dyslipidemia, and hepatic steatosis.[14] Leptin is the first of a group of adipocyte-secreted hormones to be used clinically.[15] Its long-term efficacy in 15 patients with generalized lipodystrophy was evaluated.[16]

Leptin has been judged the first novel, effective, long-term treatment for severe forms of lipodystrophy. Treating severe lipodystrophy as a leptin deficiency syndrome has been shown to improve the metabolic outcomes in those affected patients.[17]

In February 2014, the FDA approved metreleptin (Myalept), a recombinant leptin analog, for congenital or acquired generalized lipodystrophy in children and adults..[18] The approval was based on results from an NIH open-label, single-arm study that included 48 patients with congenital or acquired generalized lipodystrophy who also had diabetes mellitus, hypertriglyceridemia, and/or elevated levels of fasting insulin. The trial showed reductions in fasting glucose and triglycerides.[7]

Metreleptin is not indicated for the following:

  • Treatment of complications of partial lipodystrophy
  • Treatment of liver disease, including nonalcoholic steatohepatitis (NASH)
  • HIV-related lipodystrophy
  • Use in patients with metabolic disease, including diabetes mellitus and hypertriglyceridemia, without concurrent evidence of generalized lipodystrophy
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Surgical Care

Surgical intervention may be helpful for patients with deformities.

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Consultations

Consult specialists to manage the variety of medical problems that can occur.

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Diet

The limited ability to store energy as fat means patients with generalized lipodystrophy must maintain a rigid special diet with 4 regular-sized meals each day.

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Complications

A common cause of death has been GI hemorrhage from esophageal varices in association with hepatic failure. Renal complications are frequent causes of death in the congenital form. Frequently, patients with the acquired form also die in middle age from GI hemorrhage due to esophageal varices.

Delayed emergence from anesthesia has been described in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome).[19]

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Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Cris Jagar, MD Staff Physician, Department of Psychiatry, Trinitas Regional Medical Center

Disclosure: Nothing to disclose.

Specialty Editor Board

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

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

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

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

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

References
  1. Patni N, Alves C, von Schnurbein J, Wabitsch M, Tannin G, Rakheja D, et al. A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma. J Clin Endocrinol Metab. 2015 Oct. 100 (10):3603-6. [Medline].

  2. Akinci B, Onay H, Demir T, et al. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. J Clin Endocrinol Metab. 2016 May 4. jc20161005. [Medline].

  3. Jin J, Cao L, Zhao Z, et al. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. Eur J Endocrinol. 2007 Dec. 157(6):783-7. [Medline].

  4. Knebel B, Kotzka J, Lehr S, Hartwig S, Avci H, Jacob S, et al. A mutation in the c-fos gene associated with congenital generalized lipodystrophy. Orphanet J Rare Dis. 2013 Aug 7. 8:119. [Medline]. [Full Text].

  5. Lima JG, Nobrega LH, de Lima NN, do Nascimento Santos MG, Baracho MF, Jeronimo SM. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016. 8:23. [Medline].

  6. Llamas-Velasco M, Daudén E, Martínez-Peñas G, García-Diez A. Late-Onset Acquired Generalized Lipodystrophy With Muscle Involvement. Actas Dermosifiliogr. 2011 Dec 19. [Medline].

  7. Scatteia A, Pagano C, Pascale C, Guarini P, Marotta G, Perrone-Filardi P, et al. Asymmetric hypertrophic cardiomyopathy in generalized lipodystrophy. Int J Cardiol. 2015 Oct 9. 202:724-725. [Medline].

  8. Faria CA, Moraes RS, Sobral-Filho DC, Rego AG, Baracho MF, Egito ES, et al. Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). Europace. 2009 Apr 17. [Medline].

  9. Solanki M, Patil SS, Baweja DK, Noorani H, Pk S. Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Jan. 105(1):e41-7. [Medline].

  10. Rego AG, Mesquita ET, Faria CA, et al. [Cardiometabolic abnormalities in patients with berardinelli-Seip syndrome]. Arq Bras Cardiol. 2010 Jan. 94(1):109-18. [Medline].

  11. Al-Attar SA, Pollex RL, Robinson JF, Miskie BA, Walcarius R, Little CH, et al. Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. BMC Med Imaging. 2007. 7:3. [Medline].

  12. Mork NJ, Rajka G, Halse J. Treatment of acanthosis nigricans with etretinate (Tigason) in a patient with Lawrence-Seip syndrome (generalized lipodystrophy). Acta Derm Venereol. 1986. 66(2):173-4. [Medline].

  13. Miehle K, Stumvoll M, Fasshauer M. [Lipodystrophy : Mechanisms, clinical presentation, therapy.]. Internist (Berl). 2011 Apr. 52(4):362-373. [Medline].

  14. Moran SA, Patten N, Young JR, Cochran E, Sebring N, Reynolds J, et al. Changes in body composition in patients with severe lipodystrophy after leptin replacement therapy. Metabolism. 2004 Apr. 53(4):513-9. [Medline].

  15. Gorden P, Gavrilova O. The clinical uses of leptin. Curr Opin Pharmacol. 2003 Dec. 3(6):655-9. [Medline].

  16. Javor ED, Cochran EK, Musso C, Young JR, Depaoli AM, Gorden P. Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes. 2005 Jul. 54(7):1994-2002. [Medline].

  17. Oral EA, Chan JL. Rationale for leptin-replacement therapy for severe lipodystrophy. Endocr Pract. 2010 Mar-Apr. 16(2):324-33. [Medline].

  18. Rodriguez AJ, Mastronardi CA, Paz-Filho GJ. New advances in the treatment of generalized lipodystrophy: role of metreleptin. Ther Clin Risk Manag. 2015. 11:1391-400. [Medline].

  19. Bennett T, Allford M. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). Paediatr Anaesth. 2012 Mar. 22(3):299-300. [Medline].

  20. Schwartz RA. Acanthosis nigricans. J Am Acad Dermatol. 1994 Jul. 31(1):1-19; quiz 20-2. [Medline].

 
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Congenital generalized lipoatrophy in a 16-year-old girl. In T1-weighted magnetic resonance imaging (MRI) scan, transverse sections of the torso at the fifth lumbar vertebra demonstrate markedly deficient subcutaneous and visceral fat (top left). Transverse sections of the midthigh demonstrate an absence of subcutaneous fat, deep fat, intrafascicular fat, and marrow fat (bottom left); note light-colored, lipid-filled muscle tissue. Note absence of fat throughout the body (right).
 
 
 
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