Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation

Valério, Cynthia Melissa; Zajdenverg, Lenita; Oliveira, José Egídio Paulo de; Mory, Patrícia B.; Moyses, Regina S; Godoy-Matos, Amélio F.

doi:10.1186/1758-5996-4-40

Cited by 26 publications

(24 citation statements)

References 20 publications

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“…Genetic analyses demonstrate missense mutations in the LMNA gene [11], which are associated with defective adipogenesis, premature death of adipocytes, and lipotoxicity [12]. The first report of a mutation in the LMNA gene, located on chromosome 1q21-22, related to FPLD2, in 2000, confirmed the mutation as p.R482Q [11].…”

Section: Diagnosis Of Dunnigan-type Lipodystrophymentioning

confidence: 64%

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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Section: Diagnosis Of Dunnigan-type Lipodystrophymentioning

confidence: 64%

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

Santos¹,

Ferreira²,

Benazzi³

et al. 2017

OJEMD

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“…AGPAT2, 1-Acylglycerol-3-phosphate O-acyltransferase 2; BSCL2, Berardinelli-Seip congenital lipodystrophy 2; FPLDX, a broad group that includes FPLD1, FPLD3, and other types not numbered in standard nomenclature system; LMNA, lamin A/C gene. lipodystrophy research (5,(10)(11)(12); however, these measurements were done in regions of interest that were too broad and not necessarily designed to be clinically relevant in the context of lipodystrophy ( Supplementary Fig. 5).…”

Section: Resultsmentioning

confidence: 99%

“Fat Shadows” From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers

et al. 2018

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Lipodystrophy syndromes are a heterogeneous group of disorders associated with selective absence of fat. Currently, the diagnosis is established only clinically. RESEARCH DESIGN AND METHODS We developed a new method from DXA scans called a "fat shadow," which is a colorcoded representation highlighting only the fat tissue. We conducted a blinded retrospective validation study to assess its usefulness for the diagnosis of lipodystrophy syndromes. RESULTS We evaluated the fat shadows from 16 patients (11 female and 5 male) with generalized lipodystrophy (GL), 57 (50 female and 7 male) with familial partial lipodystrophy (FPLD), 2 (1 female and 1 male) with acquired partial lipodystrophy, and 126 (90 female and 36 male) control subjects. FPLD was differentiated from control subjects with 85% sensitivity and 96% specificity (95% CIs 72-93 and 91-99, respectively). GL was differentiated from nonobese control subjects with 100% sensitivity and specificity (95% CIs 79-100 and 92-100, respectively). CONCLUSIONS Fat shadows provided sufficient qualitative information to infer clinical phenotype and differentiate these patients from appropriate control subjects. We propose that this method could be used to support the diagnosis. Lipodystrophy syndromes are a heterogeneous group of disorders causing atypical diabetes, classified into four broad subtypes depending on the etiology and the extent of fat loss (1-4). The diagnoses of all subtypes currently depend on the clinical acumen of the physician (3,5). With niche therapies either approved or under investigation, there is a need for the development of objective diagnostic tools to reassure both regulatory bodies and third-party payors that correct patients are getting therapies. In this study, we describe a simple and reproducible method to obtain a "fat shadow" from a DXA body composition scan, which gives an overall impression of fat distribution throughout the body and may be useful as an additional clinical tool to diagnose lipodystrophy and document fat distribution. RESEARCH DESIGN AND METHODS DXA scans were acquired from subjects who participated in lipodystrophy or healthy and obese volunteer studies (5-8). Patients with lipodystrophy and control subjects

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“…Todos apresentaram FMR superior a 1,2. Esse ponto de corte foi sugerido em estudo prévio envolvendo pacientes brasileiros portadores de LPF tipo 2, em que foi demonstrada sensibilidade de 88,9% e especificidade de 93,8% para reconhecimento deste subtipo de lipodistrofia (51). Cabe destacar, ainda, a tendência observada de valores mais elevados da FMR nas pacientes de fenótipo mais típico, ou seja, com maior evidência de perda de gordura periférica.…”

Section: Avaliação Da Composição Corporalunclassified

“…Em estudo com portadores de lipodistrofia por HIV, foi estabelecida uma forma objetiva de quantificação da perda de gordura subcutânea, por meio da determinação da razão da massa de gordura ("fat mass ratio" ou FMR), que representa a razão entre a porcentagem da massa de gordura do tronco e dos membros inferiores(50). Em outro estudo, com portadores de LPF tipo 2, foi possível sugerir o ponto de corte da FMR de 1,2 para caracterizar esta forma de LPF, e enfatizando a DEXA como um método útil para avaliação objetiva da composição corporal neste subgrupo de pacientes(51). Os autores também compararam, em outro estudo, o valor da FMR de portadores de diferentes subtipos de lipodistrofia e observaram que esta medida pode ajudar a diferenciar formas parciais adquiridas das alterações metabólicas(2).…”

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Caracterização clínica, metabólica e hormonal de portadores de lipodistrofia parcial familiar

Elias¹

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As lipodistrofias são condições raras, caracterizadas por redistribuição anormal da gordura corporal. A lipodistrofia parcial familiar (LPF) caracteriza-se por perda variável de tecido adiposo subcutâneo periférico (membros e glúteos) e acúmulo de gordura em outras regiões. Há seis variantes de LPF descritas e foram identificadas mutações em cinco genes. Manifestações clínicas incluem resistência insulínica (RI) e outros componentes da síndrome metabólica (SM). Objetivo: Caracterização clínica, metabólica e hormonal de portadores de LPF. Métodos: Foram selecionados pacientes com achados clínicos sugestivos de LPF, acompanhados em dois hospitais públicos de Goiânia. Foram avaliadas medidas antropométricas [índice de massa corporal (IMC), circunferência abdominal (CA), relação cintura/quadril e índice de adiposidade corporal], variáveis bioquímicas e hormonais (glicemia, hemoglobina glicada, perfil lipídico, transaminases, PCR, cálcio, fósforo, PTH, 25OHD, insulina, leptina, TSH, T4 livre, T3, gonadotrofinas e androgênios; resistência insulínica foi avaliada com o índice HOMA-IR). O eixo hipotálamo-hipófise-adrenal (HHA) foi avaliado com medidas basais (cortisol, ACTH, cortisol salivar noturno e cortisol livre urinário) e dinâmicas (testes de supressão com 0,5 e 1 mg de dexametasona). Foi realizado ultrassom (US) pélvico nas mulheres, para avaliação de Síndrome dos Ovários Policísticos (SOP), e US de abdome para rastreamento de esteatose hepática (EH). Avaliação cardiovascular foi considerada através de exames de ecodopplercardiograma e teste ergométrico. A composição corporal foi avaliada pelo método de absorciometria radiológica de dupla energia (DEXA), incluindo a razão de massa de gordura troncular sobre a dos membros inferiores (FMR). A correlação de medidas antropométricas e relacionadas à composição corporal, com variáveis bioquímicas e hormonais, foi avaliada pelo teste de Spearman. Resultados: Foram analisados 6 pacientes (5 mulheres e 1 homem), entre 17 e 42 anos. Observou-se heterogeneidade fenotípica e perda menos acentuada de tecido adiposo periférico nos pacientes mais jovens. O único paciente do sexo masculino incluído foi o que apresentou o fenótipo menos grave. Todos os pacientes apresentaram resistência insulínica (RI) e 3 exibiram redução da concentração circulante de leptina. SOP foi diagnosticada nas 5 mulheres avaliadas. Todos os pacientes apresentaram EH e componentes da SM. RI acentuada foi observada em 4 pacientes, dos quais 3 não apresentavam obesidade. Nenhum dos pacientes apresentou hipercortisolismo. O estudo da composição corporal por DEXA envidenciou aumento da quantidade de gordura central e redução da quantidade de gordura periférica (FMR > 1,2 e aumento da taxa androide/ginoide). Não houve correlações significativas entre medidas antropométricas e da composição corporal com variáveis bioquímicas ou hormonais, embora a FMR tenha se correlacionado melhor com alterações bioquímicas e hipoleptinemia, quando comparada à CA. Conclusão: Foram observadas RI e componentes da SM em todos os ...

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Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation

Cited by 26 publications

References 20 publications

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

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

“Fat Shadows” From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers

Caracterização clínica, metabólica e hormonal de portadores de lipodistrofia parcial familiar

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