Fertility and Obstetrical Complications in Women with<i>LMNA</i>-Related Familial Partial Lipodystrophy

Vantyghem, Marie-Christine; Vincent-Desplanques, D.; Defrance-Faivre, F.; Capeau, Jacqueline; Fermon, C.; Valat, A. S.; Lascols, Olivier; Hécart, A.C.; Pigny, Pascal; Delemer, B.; Vigouroux, Corinne; Wémeau, Jean-Louis

doi:10.1210/jc.2007-2521

Cited by 86 publications

(66 citation statements)

References 40 publications

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“…All the mentioned abnormalities are consistent with observations in FPLD patients in accordance with previous reports from literature [20,21]. On the other hand, none of the patients was overweight, while most of the patients carrying the W482R mutation described to date have had BMI above the normal range [22,23].…”

Section: Discussionsupporting

confidence: 92%

Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene — case study of three women from one family

Nabrdalik

Strózik²,

Minkina-Pedras³

et al. 2013

Endokrynologia Polska

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Lipodystrophies are a heterogeneous group of diseases affecting adipose tissue distribution. Familial partial lipodystrophy of the Dunnigan type (FPLD) is a rare autosomal, dominant disorder caused by missense mutations in lamin A/C (LMNA) gene where selective loss of subcutaneous adipose tissue from the limbs and trunk, and accumulation of fat in the neck and face, is usually associated with a variety of metabolic disorders including insulin resistance, diabetes mellitus, dyslipidemia, hepatic steatosis and high blood pressure. In this report we present clinical and molecular features of three Polish women with FLPD phenotype coming from one family (a mother and her two daughters). FPLD was recognised under the circumstances of diabetes treatment, where sequencing of LMNA gene revealed heterozygous R482W mutation. In order to be able to recognise monogenic diabetes associated with lipodystrophy, it is important to be very precise in physical examination while diagnosing diabetes and to be aware of the necessity of performing genetic testing. Diabetesappropriate differential diagnosis is essential for the treatment strategy, anticipation of the disease progression, and determination of the prognosis. It is necessary for an individual mutation carrier to look carefully at the patient's family. StreszczenieLipodystrofie są heterogenną grupą chorób dotyczących rozmieszczenia tkanki tłuszczowej w organizmie. Rodzinna częściowa lipodystrofia typu Dunnigana (FPLD, familial partial lipodystrophy of the Dunnigan type) jest rzadkim autosomalnie dominującym schorzeniem, którego przyczyną jest mutacja braku sensu w genie laminy A/C (gen LMNA). W chorobie tej dochodzi do selektywnej utraty podskórnej tkanki tłuszczowej kończyn i tułowia oraz jej kumulacji w okolicy karku i twarzy, co zwykle jest związane z występowaniem różnych schorzeń metabolicznych, w tym insulinooporności, cukrzycy, dyslipidemii, stłuszczenia wątroby i nadciśnienia tętniczego. W przedstawionym raporcie opisujemy kliniczne i molekularne cechy trzech polskich kobiet pochodzących z jednej rodziny charakteryzujących się fenotypem FLPD (matka i jej dwie córki). Obecność FLPD rozpoznano w trakcie leczenia cukrzycy na podstawie sekwencjonowania genu LMNA i ujawnienia heterozygotycznej mutacji R482W. W celu rozpoznania cukrzycy monogenowej związanej z lipodystrofią ważne jest przeprowadzenie szczegółowego badania fizykalnego w toku diagnostyki cukrzycy oraz świadomość konieczności diagnostyki genetycznej wątpliwych przypadków. Prawidłowa diagnostyka różnicowa cukrzycy jest niezbędna w celu ustalenia strategii leczenia, przewidywania progresji choroby, określenia rokowania, a także jest potrzebna w celu wzmożenia czujności diagnostycznej w odniesieniu do rodziny osoby będącej nosicielem mutacji. (Endokrynol Pol 2013; 64 (4): 306-310)

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Section: Discussionsupporting

confidence: 92%

Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene — case study of three women from one family

Nabrdalik

Strózik²,

Minkina-Pedras³

et al. 2013

Endokrynologia Polska

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“…Vantyghem [8] demonstrated that LMNA-mutated lipodystrophic women: prevalence of PCOS was more than 50%, infertility close to 30%, miscarriages reached 50%, gestational diabetes at least 30%, and preeclampsia and fetal death above 10%. These were all higher than those found in the general population.…”

Section: Resultsmentioning

confidence: 99%

A Case Report of a Chinese Familial Partial Lipodystrophic Patient with Lamin A/C Gene R482Q Mutation and Polycystic Ovary Syndrome

Su¹,

Liu²,

Liu³

et al. 2017

Diabetes Case Rep

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Individuals with Familial partial lipodystrophy (FPLD), Dunnigan variety is a rare autosomal dominant disorder caused by missense mutations in Lamin gene are predisposed to insulin resistance and its complications including features of polycystic ovarian syndrome. We present a single case report about a 26-year-old Chinese woman consulted for infertility. On physical examination acanthosis nigricans and central distribution of fat were found. Her masculine type morphology, muscular appearance of the limbs and excess fat deposits in the face and neck promote us to suspect the existence of partial lipodystrophy. Biochemistry testing confirmed glucose intolerance associated with a severe insulin resistance, hypertriglyceridemia, and polycystic ovary syndrome. The detection of a heterozygous missense mutation in LAMIN A/C gene at position 482 confirmed the diagnosis of FPLD2. In conclusion, characteristic features of FPLD and mutation screening allow early diagnosis of this disorder, and facilitate appropriate clinical treatment.

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“…There are few reports in the literature describing the association of PCOS with FPLD2 [12][13][14][15].…”

Section: Pcos Secondary To Fpld2mentioning

confidence: 99%

Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects

Gambineri

Zanotti

2018

Nucleus

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Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the environment. However, PCOS may be a complication of an underlying syndrome of severe IR such as insulin receptor autoantibodies, mutations in the insulin receptor or in the signalling pathway downstream from the insulin receptor or, most frequently, a defect in function or in the development of the subcutaneous adipose tissue. Such conditions are clinically characterized by lipodystrophy. Lipodystrophy in some cases is produced by a singlegene defect. In our experience, PCOS secondary to a missense mutation in the LMNA gene, known as familial partial lipodystrophy type 2 (FPLD2), is the most frequent form of PCOS secondary to severe IR due to genetically determined lipodystrophy. These forms should be identified as they benefit from tailored therapies. ARTICLE HISTORY

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

Cited by 86 publications

References 40 publications

Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene — case study of three women from one family

Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene — case study of three women from one family

A Case Report of a Chinese Familial Partial Lipodystrophic Patient with Lamin A/C Gene R482Q Mutation and Polycystic Ovary Syndrome

Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects

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