Late-onset lipoatrophic diabetes. Phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog.

Vantyghem, Marie-Christine; Vigouroux, Corinne; Magré, Jocelyne; Desbois-Mouthon, Christèle; Pattou, F.; Fontaine, P.; Lefebvre, Julie; Capeau, J

doi:10.2337/diacare.22.8.1374

Cited by 21 publications

(8 citation statements)

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“…All these findings were compatible with the clinical diagnosis of AGL (Lawrence syndrome). AGL is an extremely infrequent syndrome with less than 40 cases reported to date [4,6,7,8,15,[17][18][19][20]. The present case represents an unexpected and exceptional form of clinical presentation of this syndrome due to the age of onset of both lipoatrophy and diabetes.…”

Section: Discussionmentioning

confidence: 79%

Lipoatrophic Diabetes in an Elderly Woman: Clinical Course and Serum Adipocytokine Concentrations

Iglesias¹,

Fidalgo

Codoceo

et al. 2004

Endocr J

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Generalized lipodystrophy is a rare disorder of adipose tissue, whose etiology remains unknown. Pathophysiology of this disorder is characterized by generalized loss of body fat associated with an infrequent form of diabetes mellitus (lipoatrophic diabetes). Main features of this form of diabetes mellitus are the severe insulin resistance and the absence of ketoacidosis. Lipodystrophy can be congenital or acquired. In the acquired form, metabolic disturbances usually begin in the first years of life and the response to conventional treatment is very poor. Some alterations in serum adipocytokines have been described in this disease. We report the case of a 74-year-old woman with acquired generalized lipodystrophy who presented with low-normal serum concentrations of leptin, low adiponectin and resistin levels, and high serum levels of TNF alpha. Patient was initially treated with fenofibrate, metformin and high doses of subcutaneous insulin achieving an adequate metabolic control. During this period, serum adipocytokines were periodically measured. We comment on the different etiopathogenic mechanisms and the therapeutic modalities of this rare syndrome.

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Section: Discussionmentioning

confidence: 79%

Lipoatrophic Diabetes in an Elderly Woman: Clinical Course and Serum Adipocytokine Concentrations

Iglesias¹,

Fidalgo

Codoceo

et al. 2004

Endocr J

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“…Indeed, the clinical expression of lipodystrophy due to LMNA mutations occurs at puberty and is more severe in females, suggesting that estrogens could play a role in the expression of the disease (34,35). Recent data have shown that certain polymorphisms of the estrogen receptor-␣ were associated with metabolic syndrome (36).…”

Section: Discussionmentioning

confidence: 97%

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

Vantyghem

Vincent-Desplanques

Defrance-Faivre

et al. 2008

The Journal of Clinical Endocrinology & Metabolism

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In these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar body mass index. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes, and obstetrical complications and require reinforced gynecological and obstetrical care.

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“…The biological and clinical characteristics of patients DE1 and K3 have been previously reported (15,16). Patients DE1 and 2 were also affected by familial benign hypercalcemia caused by a heterozygous mutation in the calciumsensing receptor gene (17).…”

Section: Methodsmentioning

confidence: 99%

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.

et al. 2000

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Missense mutations of the lamin A/C gene, LMNA, have been recently identified in Dunnigan-type familial partial lipodystrophy (FPLD), which belongs to a heterogeneous group of rare disorders affecting adipose tissue distribution and metabolism. In this study, we sequenced the LMNA coding region from patients presenting with FPLD or other forms of lipodystrophy. We identified two heterozygous mutations in exon 8, R482W and R482Q, in FPLD patients (six families and one individual) with various clinical presentations. In addition, we found a novel heterozygous mutation (R584H) in exon 11, encoding specifically the lamin A isoform, in a patient with typical FPLD. Clinical and biochemical investigations in FPLD patients revealed that the expression and the severity of the phenotype were markedly dependent on sex, with female patients being more markedly affected. In subjects with generalized lipoatrophy, either congenital (13 case subjects) or acquired (14 case subjects), or Barraquer-Simon syndrome (2 case subjects), the entire LMNA coding sequence was normal. Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutation at codon 584, together with the R582H heterozygous substitution recently described, confirms that the C-terminal region specific to the lamin A isoform is a second susceptibility region for mutations in FPLD.

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Late-onset lipoatrophic diabetes. Phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog.

Cited by 21 publications

References 0 publications

Lipoatrophic Diabetes in an Elderly Woman: Clinical Course and Serum Adipocytokine Concentrations

Lipoatrophic Diabetes in an Elderly Woman: Clinical Course and Serum Adipocytokine Concentrations

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

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.

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