The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy

Fleckenstein, James L.; Garg, Abhimanyu; Bonte, Frederick J.; Vuitch, Milan F.; Peshock, Ronald M

doi:10.1007/bf00241817

Cited by 68 publications

(34 citation statements)

References 10 publications

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“…Acromegaloid features, including enlargement of hands, feet, and jaw, are often present. Associated features include umbilical hernia, hepatomegaly secondary to hepatic steatosis that can progress to cirrhosis, splenomegaly, lymphadenopathy, and focal lytic lesions of the appendicular bones (7)(8)(9). Cardiomyopathy and mental retardation may variably occur (10,11).…”

Section: Cgl (Berardinelli-seip Syndrome)mentioning

confidence: 99%

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

Hegele

Joy

Al-Attar

et al. 2007

Journal of Lipid Research

127

103

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The lipodystrophies are characterized by loss of adipose tissue in some anatomical sites, frequently with fat accumulation in nonatrophic depots and ectopic sites such as liver and muscle. Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized lipodystrophy (CGL), and some cases with Barraquer-Simons acquired partial lipodystrophy (APL). The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor g in FPLD type 3; 4 ) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5 ) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6 ) metalloproteinase ZMPSTE24 in MAD type B. An unresolved question is whether metabolic disturbances are secondary to adipose repartitioning or result from a direct effect of the mutant gene product. Careful analysis of clinical, biochemical, and imaging phenotypes, using an approach called "phenomics," reveals differences between genetically stratified subtypes that can be used to guide basic experiments and to improve our understanding of common clinical entities, such as metabolic syndrome or the partial lipodystrophy syndrome associated with human immunodeficiency virus infection.-Hegele, R. A., T. R. Joy, S. A. Al-Attar, and B. K. Rutt. Lipodystrophies: windows on adipose biology and metabolism. J. Lipid Res.

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Section: Cgl (Berardinelli-seip Syndrome)mentioning

confidence: 99%

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

Hegele

Joy

Al-Attar

et al. 2007

Journal of Lipid Research

127

103

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“…Only approximately 63 cases of AGL have been reported since the condition was first described in 1928 [17]. CGL has a well-characterized relationship to the development of nonspecific lytic bone lesions [4,10,18]. In AGL, lytic bone lesions have been reported only three times [6,13,19] and have never been diagnosed or treated.…”

Section: Discussionmentioning

confidence: 99%

“…Lipodystrophic syndromes are characterized by complete or partial absence of adipose tissue [10]. They can be classified as localized or generalized and congenital or acquired.…”

Section: Introductionmentioning

confidence: 99%

“…Generalized lipodystrophies may include severe systemic metabolic abnormalities involving various organ systems. Subclassification of generalized lipodystrophies is based primarily on age at onset: congenital generalized lipodystrophy (CGL) is present at birth, and acquired generalized lipodystrophy (AGL) develops during childhood [10].…”

Section: Introductionmentioning

confidence: 99%

“…Numerous authors have described the development of lytic lesions of the appendicular skeleton in these patients [1,4,10,12,18]. In contrast, bony lesions only rarely have been mentioned in AGL [6,13,19] and apparently were symptomatic in only one of the reported cases [19].…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Unicameral Bone Cysts in a Young Patient with Acquired Generalized Lipodystrophy

Gregory

Arkader

Bothari

et al. 2010

Clinical Orthopaedics &Amp; Related Research

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We report the case of a 13-year-old boy with bilateral distal femoral unicameral bone cysts (UBCs) associated with acquired generalized lipodystrophy. As opposed to congenital generalized lipodystrophy, cystic bone lesions in acquired generalized lipodystrophy are rare. After radiographic and histologic confirmation of the UBCs, we performed percutaneous intramedullary decompression, curettage, and grafting. UBCs can be an important manifestation of acquired generalized lipodystrophy. Cystic bone lesions appear to be less common in acquired generalized lipodystrophy than in congenital generalized lipodystrophy, and intramedullary adipose tissue loss may be a predisposing factor for the development of bone lesions in patients with acquired generalized lipodystrophy. When evaluating a patient with lipodystrophy, doctors should recognize the clinical course may include the development of UBCs.

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Lipodystrophies and Diabetes

Garg

Misra

2003

International Textbook of Diabetes Mellitus

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Lipodystrophies are heterogeneous disorders of adipose tissue, characterized by selective loss of body fat and a predisposition to develop insulin resistance, diabetes mellitus, hyperlipidemia, and hepatic steatosis. These disorders can be either genetic or acquired. The extent of fat loss can also vary from being localized or partial to generalized. Among the genetic lipodystrophies, congenital generalized lipodystrophy is caused by mutations in 1‐acylglycerol‐3‐phosphate O ‐acyltransferase 2 ( AGPAT2 ) and Berardinelli–Seip Congenital Lipodystrophy 2 ( BSCL2 ) genes and familial partial lipodystrophies by defects in lamin A/C ( LMNA ) and peroxisome proliferator‐activated receptor γ ( PPARG ) genes. Acquired generalized and partial lipodystrophies are likely to be autoimmune diseases. Lipodystrophy in HIV‐infected patients is mainly due to prolonged treatment with HIV‐1 protease inhibitors. Diabetes in patients with lipodystrophies may be caused by severe insulin resistance (hepatic and peripheral) and decrease in the insulin secretion due to pancreatic islet amyloidosis and β‐cell atrophy. Hyperglycemia is difficult to manage despite large doses of insulin but does not lead to ketosis. Recombinant human leptin has been reported to drastically improve hyperglycemia and hypertriglyceridemia in lipodystrophy patients with low serum leptin levels. It is hoped that our understanding of the pathogenesis of these disorders will contribute to a better understanding of adipocyte physiology, and of the molecular mechanisms of insulin resistance and eventually to better therapeutic options.

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The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy

Cited by 68 publications

References 10 publications

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

Case Report: Unicameral Bone Cysts in a Young Patient with Acquired Generalized Lipodystrophy

Lipodystrophies and Diabetes

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