Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1.

Context: Familial partial lipodystrophy type 1 (FPLD1) is an extreme form of central adiposity, with peripheral lipodystrophy associated with severe manifestations of the metabolic syndrome, often poorly responsive to standard therapeutic approaches. Body mass index in FPLD1 varies but, in many cases, is below the level at which metabolic surgery is usually considered as a therapeutic option. Design: We detailed the metabolic response to gastric bypass surgery of three patients with FPLD1, refractory to medical therapy. Results: Roux-en-Y gastric bypass (RYGB) was associated with weight loss and substantial improvements in glycemic control and insulin sensitivity. All three patients were able to stop using insulin. Glucose tolerance testing in one patient demonstrated an increase in L-cell-derived gut hormone responses postoperatively. Conclusion: RYGB surgery substantially improved glycemic control in three patients with FPLD1, two of whom had body mass indices below 30 kg/m2. RYGB should be considered in patients with partial lipodystrophy and refractory metabolic disease.

Successful Treatment of an Unusual Case of FPLD2: The Role of Roux-en-Y Gastric Bypass-Case Report and Literature Review.

Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years. The clinical presentations and causes of FPLD are reviewed and the role of RYGB is discussed.

Trasplante simultáneo de riñón y páncreas exitoso en paciente con lipodistrofia parcial congénita / Successfull Simultaneous Pancreas Kidney transplantation in a patient with congenital partial lipodystrophy

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Liposuction in body-shaping treatment for Kobberling-Dunnigan syndrome / Lipoaspiração no tratamento do contorno corporal na síndrome de Kobberling-Dunnigan

INTRODUCTION: Kobberling-Dunnigan syndrome is characterized by a series of alterations in metabolism and body fat distribution. Body dysmorphism and the Cushingoid appearance may have negative social and psychological impacts on the patient, including difficulty with social adaptation. In such cases, liposuction is used with the aim of improving body contour, with consequent improvements in self-esteem. The results are long lasting when body weight is maintained. CASE REPORT: Liposuction of the back, abdomen, and cervical regions in a woman with Kobberling-Dunnigan syndrome led to significant improvement in her body shape, and the results were maintained nine months postoperatively.

INTRODUÇÃO: A síndrome de Kobberling-Dunnigan caracteriza-se por um conjunto de alterações metabólicas e de distribuição da gordura corporal. O dismorfismo corporal e o aspecto cushingoide trazem repercussões psicológicas e sociais, com dificuldade de ajuste social. Nesses casos, a lipoaspiração é empregada com o objetivo de melhorar o contorno corporal e, consecutivamente, as alterações de autoestima. Os resultados apresentam-se duradouros quando há manutenção do peso. RELATO DO CASO: Paciente do sexo feminino, portadora de síndrome de Kobberling-Dunnigan, submetida a lipoaspiração de dorso, abdome e região cervical, com melhora significativa do contorno corporal e manutenção dos resultados nove meses após a operação.

Breast augmentation in Familial Partial Lipodystrophy: a case report.

Familial Partial Lipodystrophy (or Dunnigan-Kobberling syndrome) is characterised by the progressive loss of peripheral subcutaneous fat, with or without truncal involvement. The resultant physical changes in appearance may be dramatic, especially in women, and their psychological impact underestimated. There are limited reports regarding the role of reconstructive procedures to address the physical defects imposed by the various lipodystrophy syndromes, and much of the work to date has focused around facial lipoatrophy in patients with HIV-1 protease inhibitor induced disease. We, however, present a single case report pertaining to the role of breast augmentation in patients with truncal lipoatrophy, as in Familial Partial Lipodystrophy.

Tratamento cirúrgico do paciente com síndrome de Barraquer-Simon: revisão bibliográfica e relato de caso / Surgical treatment of patient with Barraquer-Simon syndrome: review of literature and related case

Barraquer e Simon descreveram no começo do século uma doença caracterizada por progressiva atrofia da gordura do tecido subcutâneo, limitada à parte superior do corpo, incluindo face. É uma síndrome rara, de origem obscura, também conhecida como lipodistrofia céfalotorácica. Os pacientes com a síndrome perdem progressivamente sua gordura subcutânea em direção craniocaudal simetricamente, começando na face e progredindo até uma determinada área da coxa. Freqüentemente estes pacientes apresentam uma hipertrofia de tecido celular subcutâneo nas suas extremidades inferiores. A doença começa no final da primeira década de vida ou no começo da segunda década, e é rara em pacientes do sexo masculino. Os autores descrevem um caso da síndrome de Barraquer-Simon com envolvimento facial e torácico, sem outras anomalias. Durante o seguimento cirúrgico, foram realizadas lipoenxertias, cirurgia para colocação de bioimplantes malares e cirurgia ortognática. A síndrome de Barraquer-Simon, classificada como lipodistrofia parcial, ainda é pouco compreendida. Mais estudos serão necessários para confirmar a base genética.

Barraquer and Simon described at the beginning of the century a disease characterized by progressive atrophy of the fat tissue of the sub-cutaneous limited to upper body including face. It is a rare syndrome of obscure origin, also known as lipodystrophy cefalochest. The patients with the syndrome gradually lose their fat sub-cutaneous toward craniocaudal symmetrically, starting on the face and progresses to a certain area of the thigh. Often these patients have a hypertrophy of cellular sub-cutaneous tissue in their lower extremities. The disease begins at the end of the first decade of life or at the beginning of the second decade, and is rare in patients male. The authors describe a case of the syndrome Barraquer-Simon involvement with facial and chest with no other abnormalities. During the surgical follow up, was performed lipoenxertias, surgery for placement of bioimplantes malares and surgery orthognathic. The syndrome Barraquer-Simon, classified as partial lipodystrophy, is still little understood. More studies are needed to confirm the genetic basis.