Generalized lipoatrophy syndromes

Sorkina, Ekaterina; Chichkova, Valentina

doi:10.1016/j.lpm.2021.104075

Cited by 3 publications

(2 citation statements)

References 76 publications

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Section: Discussionmentioning

confidence: 99%

“…The phenotypic expression of type 2 CGL present in this case includes prominent skeletal muscles, minimal body fat, limb phlebomegaly, hyperphagia, severe insulin resistance with gross hyperglycemia in the absence of ketoacidosis, hypertriglyceridemia, hepatomegaly, and a low serum leptin level. 3 Initial treatment focused on managing metabolic risk factors to avoid short-term complications like pancreatitis and diabetic ketoacidosis. Metreleptin is the only drug approved for generalized lipodystrophies, which she acquired 1 year after her initial metabolic findings through a CGL specialist.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Congenital Generalized Lipodystrophy in a Division 1 Female Sprinter

Schleich,

Novakofski,

Thomsen

et al. 2024

Clinical Journal of Sport Medicine

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A 21-year-old African American Division 1 female sprinter presented with 3-weeks history of right great toe and forefoot pain, fatigue, and a 30-day continuous menstrual cycle despite implanted etonogestrel (Nexplanon) inserted 3 years prior. An magnetic resonance imagine (MRI) identified likely stress fracture of the second metatarsal base with a diffusely low T1 signal indicating hyperactive red marrow. Due to persistent pain, a follow-up MRI was ordered 6 months later and indicated serous atrophy of the bone marrow, prompting a further metabolic workup notable for triglycerides exceeding 4000 mg/dL and a hemoglobin A1c of 10.9%. This case highlights the manifestation of a rare congenital lipodystrophy that initially presented as a relatively classic stress fracture and metrorrhagia in a female athlete.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Congenital Generalized Lipodystrophy in a Division 1 Female Sprinter

Schleich,

Novakofski,

Thomsen

et al. 2024

Clinical Journal of Sport Medicine

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Function and Regulation of Bone Marrow Adipose Tissue in Health and Disease: State of the Field and Clinical Considerations

Zhang,

Tian,

Majumdar

et al. 2024

Comprehensive Physiology

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Bone marrow adipose tissue (BMAT) is a metabolically and clinically relevant fat depot that exists within bone. Two subtypes of BMAT, regulated and constitutive, reside in hematopoietic‐rich red marrow and fatty yellow marrow, respectively, and exhibit distinct characteristics compared to peripheral fat such as white and brown adipose tissues. Bone marrow adipocytes (BMAds) are evolutionally preserved in most vertebrates, start development after birth and expand throughout life, and originate from unique progenitor populations that control bone formation and hematopoiesis. Mature BMAds also interact closely with other cellular components of the bone marrow niche, serving as a nearby energy reservoir to support the skeletal system, a signaling hub that contributes to both local and systemic homeostasis, and a final fuel reserve for survival during starvation. Though BMAT and bone are often inversely correlated, more BMAT does not always mean less bone, and the prevention of BMAT expansion as a strategy to prevent bone loss remains questionable. BMAT adipogenesis and lipid metabolism are regulated by the nervous systems and a variety of circulating hormones. This contributes to the plasticity of BMAT, including BMAT expansion in common physiological or pathological conditions, and BMAT catabolism under certain extreme circumstances, which are often associated with malnutrition and/or systemic inflammation. Altogether, this article provides a comprehensive overview of the local and systemic functions of BMAT and discusses the regulation and plasticity of this unique adipose tissue depot in health and disease. © 2024 American Physiological Society. Compr Physiol 14:5521‐5579, 2024.

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Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy

et al. 2022

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Acquired generalized lipodystrophy (AGL) is a rare condition characterized by massive loss of adipose tissue through the body, causing severe metabolic complications. Autoimmune destruction of adipocytes is strongly suspected based on the frequent association of AGL with autoimmune disorders. In 2018 autoantibodies against Perilipin 1 (PLIN1) were identified in three patients with autoimmune-associated AGL. However, the pathogenic mechanism and clinical impact of anti-PLIN1 remain unsolved. The prevalence of anti-PLIN1 autoantibodies in an AGL cohort of 40 patients was 50% (20/40). Among positive patients, ten had the autoimmune variety and ten had panniculitis-associated AGL. The IgG isotype was predominant although some IgM antibodies were detected. Epitope mapping studies did not identify a single, major epitope. Instead, autoantibodies typically bound to several different peptides, among which the central (233-405) domain was detected in all antibody positive patients, both for IgG and IgM autoantibodies. In-depth epitope mapping indicated that anti-PLIN1 autoantibodies predominantly recognize the ABHD5 binding site (383-405). Autoantibodies dose-dependently blocked the binding of PLIN1 to ABHD5 and caused a dislocation of ABHD5 towards the cytosol, leading to an increase in lipolysis and lipase activities. Finally, anti-PLIN1 titers significantly correlated with the amount of fat loss, metabolic control impairment, and severity of liver injury. Our data strongly support that anti-PLIN1 autoantibodies are a diagnostic biomarker and a cause of lipodystrophy in patients with AGL.

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Generalized lipoatrophy syndromes

Cited by 3 publications

References 76 publications

Congenital Generalized Lipodystrophy in a Division 1 Female Sprinter

Congenital Generalized Lipodystrophy in a Division 1 Female Sprinter

Function and Regulation of Bone Marrow Adipose Tissue in Health and Disease: State of the Field and Clinical Considerations

Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy

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