[ARTIGO PARCIALMENTE RETRATADO] Avaliação bioquímica, hormonal e genética das famílias de duas pacientes brasileiras portadoras de lipodistrofia parcial familiar tipo 2

Caldas, Dayse; Júnior, Wellington Santana da Silva; Simonetti, José Pascoal; Costa, Eliane Veiga da; Farias, Maria Lúcia Fleiuss

doi:10.1590/s0004-27302013000800002

Cited by 5 publications

(5 citation statements)

References 21 publications

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“…In this study, the reduction in subcutaneous adipose tissue was mild in the three youngest patients, which is consistent with a report showing that the adipose loss in FPL is gradual and progressive [2–5, 9]. The patient’s family history may represent a key parameter for the precocious identification of new and atypical cases, thus indicating the importance of screening the relatives of syndrome carriers [30].…”

Section: Discussionsupporting

confidence: 91%

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Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy

Elias

Antunes

Coêlho

et al. 2019

Diabetol Metab Syndr

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BackgroundFamilial partial lipodystrophy (FPL) is a rare genetic disease characterized by body fat abnormalities that lead to insulin resistance (IR). Clinical conditions linked to milder IR, such as type 2 diabetes (T2D) and metabolic syndrome, are associated with abnormalities of the hypothalamic–pituitary–adrenal (HPA) axis, but little is known about its activity in FPL.MethodsPatients meeting the clinical criteria for FPL were subjected to anthropometric, biochemical and hormone analyses. A genetic study to identify mutations in the genes encoding peroxisome proliferator-activated receptor gamma (PPARγ) was performed. Polycystic ovary syndrome and hepatic steatosis were investigated, and the patient body compositions were analyzed via dual X-ray energy absorptiometry (DXA). The HPA axis was assessed via basal [cortisol, adrenocorticotrophic hormone (ACTH), cortisol binding globulin, nocturnal salivary cortisol and urinary free cortisol (UFC)] as well as dynamic suppression tests (cortisol post 0.5 mg and post 1 mg dexamethasone).ResultsSix patients (five female and one male) aged 17 to 42 years were included. In DXA analyses, the fat mass ratio between the trunk and lower limbs (FMR) was > 1.2 in all phenotypes. One patient had a confirmed mutation in the PPARγ gene: a novel heterozygous substitution of p. Arg 212 Trp (c.634C>T) at exon 5. HPA sensitivity to glucocorticoid feedback was preserved in all six patients, and a trend towards lower basal serum cortisol, serum ACTH and UFC values was observed.ConclusionsOur findings suggest that FPL is not associated with overt abnormalities in the HPA axis, despite a trend towards low-normal basal cortisol and ACTH values and lower UFC levels. These findings suggest that the extreme insulin resistance occurring in FPL may lead to a decrease in HPA axis activity without changing its sensitivity to glucocorticoid feedback, in contrast to the abnormalities in HPA axis function in T2D and common metabolic syndrome.

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Section: Discussionsupporting

confidence: 91%

“…The direct correlation between leptinemia and body fat mass appears to be well established [32]. Although BMI has already been positively correlated with leptin levels in lipodystrophy [33], this correlation is not consistently observed in patients with this disease [30, 34].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy

Elias

Antunes

Coêlho

et al. 2019

Diabetol Metab Syndr

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“…The diagnosis was confirmed by a genetic study. Mutations of the codon 482 of the LMNA gene account for the majority of cases reported [ 20 - 24 , 33 - 35 ], and, although this residue is traditionally considered a mutational hot spot for FPLD2, other mutations in exon 8 (codon 465, 466, 485 and 486) and in exon 11 (codon 582, 583 and 584) have been recorded [ 20 , 33 , 36 ].…”

Section: Discussionmentioning

confidence: 99%

Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report

et al. 2015

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BackgroundFamilial partial lipodystrophy, Dunnigan variety, is a recognised autosomal dominant disorder which is caused by heterozygous missense mutations in the lamin A/C gene. Dunnigan lipodystrophy is characterised by a variable loss of fat from the extremities and trunk, as well as an excess of subcutaneous fat in the chin and supraclavicular area. The associated metabolic abnormalities include: insulin resistance, diabetes, dyslipidaemia and low leptin levels.Case presentationThe authors studied the case of a 24-year-old caucasian pregnant woman, with a past medical history of acute pancreatitis, combined dyslipidaemia and diabetes mellitus. At 7 weeks of pregnancy she was referred to the outpatient endocrinology and obstetrics clinic for diabetes care. A physical examination revealed that she presented a loss of fat from the extremities and trunk and also had an excess of subcutaneous fat in the chin. Triglyceride levels were persistently high, and glycaemic control was only achieved through the administration of high doses of insulin (1.8 U/Kg/day). Dunnigan lipodystrophy was suspected and thus a genetic study was requested, which revealed the presence of c.1444C > T (p.Arg482Trp) heterozygote mutation in the lamin A/C gene.ConclusionThis case is used to illustrate the importance of being able to recognise the clinical signs of this rare lipodystrophic syndrome, which may cause potentially severe consequences, and also the difficulties in treating it during pregnancy.

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“…Diseases related to mutations in the LMNA gene are highly heterogeneous, including neuromuscular and cardiac dystrophies, lipodystrophies, and precocious aging syndromes [8].…”

Section: Diagnosis Of Dunnigan-type Lipodystrophymentioning

confidence: 99%

“…Lipoatrophy in the limbs, gluteal region, abdomen, and trunk is followed by fat accumulation in the face, chin, neck, back, intra-abdominal region, and labia majora and apparent muscle hypertrophy, typically more rapidly identified in female patients [8] [13]. Some women display hyperandrogyny, clinically manifested by severe hirsutism and alterations in the menstrual cycle such as oligomenorrhea.…”

Section: Dunnigan-type Lipodystrophy Phenotype Assessmentmentioning

confidence: 99%

Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome

Santos¹,

Ferreira²,

Benazzi³

et al. 2017

OJEMD

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Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. Methods: Case report and literature review. Results: A 15-year-old adolescent presented at the clinic complaining of darkening of skin folds on her trunk and back. During physical examination, the presence of serious acanthosis nigricans in her cervical region, axillae, and intergluteal space was noted. Hirsutism in androgen-dependent areas was also observed, as well as relevant reduction of subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk and fat accumulation in the face and chin. Discussion. Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. It is characterized by the progressive disappearance of the subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk, with onset in puberty, followed by fat accumulation in other areas such as the face, chin, labia majora, and intra-abdominal region, leading to hypertrophy that may mimic the Cushing's syndrome phenotype. Affected patients display marked insulin resistance and may consequently develop diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary syndrome. Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. Early clinical diagnosis allows for measures that minimize the severe metabolic disorders associated with this disease and, consequently, these adolescents' self-esteem issues.

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[ARTIGO PARCIALMENTE RETRATADO] Avaliação bioquímica, hormonal e genética das famílias de duas pacientes brasileiras portadoras de lipodistrofia parcial familiar tipo 2

Cited by 5 publications

References 21 publications

Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy

Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy

Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report

Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome

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