Lipodystrophies in non-insulin-dependent children: Treatment options and results from recombinant human leptin therapy

Calcaterra, Valeria; Magenes, Vittoria Carlotta; Rossi, Virginia; Fabiano, Valentina; Mameli, Chiara; Zuccotti, Gianvincenzo

doi:10.1016/j.phrs.2022.106629

Cited by 2 publications

(3 citation statements)

References 104 publications

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“…Individuals with obesity often have hyperleptinemia and loss of leptin responsiveness at the CNS [ 74 ], which is linked to T2D, inflammation, and obesity [ 75 ]. The exact role of leptin-IR mechanisms in humans, especially in the development of metabolic diseases, is not fully understood, despite the processes shown in animal studies [ 76 ] and in the clinic [ 77 ]. Increased production of leptin is primarily regulated by high levels of insulin, while beta-adrenergic stimulation reduces leptin secretion [ 78 ].…”

Section: Discussionmentioning

confidence: 99%

Evidence That Peripheral Leptin Resistance in Omental Adipose Tissue and Liver Correlates with MASLD in Humans

De la Cruz-Color,

Dominguez-Rosales,

Maldonado-González

et al. 2024

IJMS

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Leptin regulates lipid metabolism, maximizing insulin sensitivity; however, peripheral leptin resistance is not fully understood, and its contribution to metabolic dysfunction-associated steatotic liver disease (MASLD) is unclear. This study evaluated the contribution of the leptin axis to MASLD in humans. Forty-three participants, mostly female (86.04%), who underwent cholecystectomy were biopsied. Of the participants, 24 were healthy controls, 8 had MASLD, and 11 had metabolic dysfunction-associated steatohepatitis (MASH). Clinical and biochemical data and the gene expression of leptin, leptin receptor (LEPR), suppressor of cytokine signaling 3 (SOCS3), sterol regulatory element-binding transcription factor 1 (SREBF1), stearoyl-CoA desaturase-1 (SCD1), and patatin-like phospholipase domain-containing protein 2 (PNPLA2), were determined from liver and adipose tissue. Higher serum leptin and LEPR levels in the omental adipose tissue (OAT) and liver with MASH were found. In the liver, LEPR was positively correlated with leptin expression in adipose tissue, and SOCS3 was correlated with SREBF1-SCD1. In OAT, SOCS3 was correlated with insulin resistance and transaminase enzymes (p < 0.05 for all. In conclusion, we evidenced the correlation between the peripheral leptin resistance axis in OAT–liver crosstalk and the complications of MASLD in humans.

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Section: Discussionmentioning

confidence: 99%

Evidence That Peripheral Leptin Resistance in Omental Adipose Tissue and Liver Correlates with MASLD in Humans

De la Cruz-Color,

Dominguez-Rosales,

Maldonado-González

et al. 2024

IJMS

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“…Recombinant leptin therapy is a recently approved therapy adjunct to diet to treat the severe metabolic complications of leptin deficiency in lipodystrophy patients, which can manifest at early ages. Many studies reported that Leptin therapy was found to be useful in improving glycemic status and blood lipid status 14–19 . In addition, Leptin replacement showed successfully decreasing hepatic steatosis and insulin resistance if used for at least 12 months 17,18 .…”

Section: Discussionmentioning

confidence: 99%

“…Many studies reported that Leptin therapy was found to be useful in improving glycemic status and blood lipid status. [14][15][16][17][18][19] In addition, Leptin replacement showed successfully decreasing hepatic steatosis and insulin resistance if used for at least 12 months. 17,18 Leptin replacement therapy improves the patients' lifestyle by giving relief from the use of large amounts of antidiabetic and antilipidemic drugs.…”

Section: Ofmentioning

confidence: 99%

Liver transplantation in patient with Berardinelli–Seip syndrome: A literature review and case report

Aliyev,

Samadov,

Ibrahimli

et al. 2023

Pediatric Transplantation

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BackgroundBerardinelli–Seip syndrome is an infrequently seen and potentially fatal genetic disorder characterized by the absence of adipose tissue. Herein, we report a first‐in‐literature liver transplant done on a 7‐year‐old girl because of liver cirrhosis caused by the Berardinelli–Seip syndrome.Case ReportPhysical examination showed prominent subdermal fat tissue loss and mild muscle hypertrophy, giving her a slim appearance, hirsutism, thick hair, a large head in contrast to the body, low anterior hairline, icterus, prominent facial contours, prominent mandibula, loss of buccal fat, low set ears, and large limbs. After the diagnosis, she admitted to our clinic because of variceal esophageal bleeding and increasing liver enzymes. Transplantation decision was made and orthothopic liver transplantation done by the surgery team.DiscussionCommon causes of death in Berardinelli–Seip syndrome patients are infections and liver cirrhosis. The mean age of the patients was 27.1 at the time of death. There is no any established cure for congenital lipodystrophies so far. However, some symptomatic treatment methods are found to be helpful. The main point of the case report to be discussed is the liver transplantation done by our surgical team. There are no examples of any transplantation in Berardinelli–Seip syndrome patients, but several reports can be found of patients with kidney or liver failure.ConclusionBerardinelli–Seip syndrome is a rare disorder with no cure but a chance of improving lifestyle and life expectancy. The transplantation option should be considered in young patients after a multidisciplinary review.

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Lipodystrophies in non-insulin-dependent children: Treatment options and results from recombinant human leptin therapy

Cited by 2 publications

References 104 publications

Evidence That Peripheral Leptin Resistance in Omental Adipose Tissue and Liver Correlates with MASLD in Humans

Evidence That Peripheral Leptin Resistance in Omental Adipose Tissue and Liver Correlates with MASLD in Humans

Liver transplantation in patient with Berardinelli–Seip syndrome: A literature review and case report

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