Diagnosis and treatment of lipodystrophy: a step-by-step approach

D Araújo-Vilar, F Santini - Journal of endocrinological investigation, 2019 - Springer
Aim Lipodystrophy syndromes are rare heterogeneous disorders characterized by
deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe …

A comprehensive update on the chylomicronemia syndrome

RB Goldberg, A Chait - Frontiers in endocrinology, 2020 - frontiersin.org
The chylomicronemia syndrome is characterized by severe hypertriglyceridemia and fasting
chylomicronemia and predisposes affected individuals to acute pancreatitis. When due to …

Lipodistrophy: a paradigm for understanding the consequences of “overloading” adipose tissue

K Lim, A Haider, C Adams, A Sleigh… - Physiological …, 2021 - journals.physiology.org
Lipodystrophies have been recognized since at least the nineteenth century and, despite
their rarity, tended to attract considerable medical attention because of the severity and …

The chylomicronemia syndrome is most often multifactorial: a narrative review of causes and treatment

A Chait, RH Eckel - Annals of internal medicine, 2019 - acpjournals.org
The chylomicronemia syndrome occurs when triglyceride levels are severely elevated
(usually> 16.95 mmol/L [1500 mg/dL]) and is characterized by such clinical features as …

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

A Fernandez-Pombo, EJ Diaz-Lopez, AI Castro… - Cells, 2023 - mdpi.com
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to
pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of …

Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy

EA Oral, P Gorden, E Cochran, D Araújo-Vilar… - Endocrine, 2019 - Springer
Purpose To evaluate the effects of metreleptin in patients with partial lipodystrophy (PL).
Methods Patients aged≥ 6 months with PL, circulating leptin< 12.0 ng/mL, and diabetes …

Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort

N Ajluni, R Meral, AH Neidert, GF Brady… - Clinical …, 2017 - Wiley Online Library
Context Partial lipodystrophy (PL) is associated with metabolic co‐morbidities but may go
undiagnosed as the disease spectrum is not fully described. Objective The objective of the …

[HTML][HTML] Lipodystrophy syndromes: presentation and treatment

B Akinci, M Sahinoz, E Oral - 2018 - europepmc.org
Lipodystrophy syndromes are a heterogeneous group of diseases, characterized by
selective absence of adipose tissue. In one sense, these diseases are lipid-partitioning …

Severe hypertriglyceridaemia and chylomicronaemia syndrome—causes, clinical presentation, and therapeutic options

B Bashir, JH Ho, P Downie, P Hamilton, G Ferns… - Metabolites, 2023 - mdpi.com
We have reviewed the genetic basis of chylomicronaemia, the difference between
monogenic and polygenic hypertriglyceridaemia, its effects on pancreatic, cardiovascular …

Genetic syndromes of severe insulin resistance

A Melvin, S O'Rahilly, DB Savage - Current opinion in genetics & …, 2018 - Elsevier
Insulin resistance underpins the link between obesity and most of its associated metabolic
disorders including type 2 diabetes, fatty liver disease, dyslipidaemia and cardiovascular …