About this Research Topic
Lipodystrophies are a heterogeneous group of disorders characterized by total or partial loss of adipose tissue in body areas and may be genetic or acquired.
Patients present with metabolic consequences of ectopic fat accumulation, such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Among the acquired forms, we highlight acquired partial and acquired generalized lipodystrophy, both associated with autoimmune disorders. Regarding genetic types, there are congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPLD).
Some genes have been identified as causing the CGL (AGPAT2, BSCL2, CAV1, CAVIN1) and FPLD (LMNA, PPARG, AKT2, PLIN1). FPLD presentation can be quite heterogeneous. Inherited lipodystrophies are studied as a model of metabolic syndrome, bringing essential insights into the pathophysiology of type 2 diabetes mellitus.
Some gaps related to diagnosis and management are the actual prevalence of the disease, its comorbidities and complications, the best diagnostic tools, and treatments involving new medications.
This Research Topic aims to cover promising recent, and novel insights about genetic lipodystrophies regarding diagnostic markers and tolls as well as treatment approaches that may lead to better recognition, management, and prognosis of these patients.
We welcome the submission of Original Research articles, Reviews, Opinions, Perspectives, and Mini and Systematic Reviews, focusing on but not limited to the following themes:
- Estimation of the prevalence of genetic lipodystrophies in different countries;
- Prevalence of comorbidities and complications in patients with genetic lipodystrophy;
- Use of diagnostic tools as skinfold measurements, dual-energy x-ray absorptiometry (DXA) and whole body magnetic resonance imaging (MRI) to improve recognition of genetic lipodystrophies (specially FPLD);
- New genes related to genetic lipodystrophy syndromes;
- Treatments including pioglitazone, GLP-1 analogs, metreleptin and new medications in CGL and FPLD;
Meta-analyses are also allowed. Preference will be given to studies on humans;
* Reviews should be submitted only upon previous agreement with the Guest Editors – pre-submission enquiries required
Patients present with metabolic consequences of ectopic fat accumulation, such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Among the acquired forms, we highlight acquired partial and acquired generalized lipodystrophy, both associated with autoimmune disorders. Regarding genetic types, there are congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPLD).
Some genes have been identified as causing the CGL (AGPAT2, BSCL2, CAV1, CAVIN1) and FPLD (LMNA, PPARG, AKT2, PLIN1). FPLD presentation can be quite heterogeneous. Inherited lipodystrophies are studied as a model of metabolic syndrome, bringing essential insights into the pathophysiology of type 2 diabetes mellitus.
Some gaps related to diagnosis and management are the actual prevalence of the disease, its comorbidities and complications, the best diagnostic tools, and treatments involving new medications.
This Research Topic aims to cover promising recent, and novel insights about genetic lipodystrophies regarding diagnostic markers and tolls as well as treatment approaches that may lead to better recognition, management, and prognosis of these patients.
We welcome the submission of Original Research articles, Reviews, Opinions, Perspectives, and Mini and Systematic Reviews, focusing on but not limited to the following themes:
- Estimation of the prevalence of genetic lipodystrophies in different countries;
- Prevalence of comorbidities and complications in patients with genetic lipodystrophy;
- Use of diagnostic tools as skinfold measurements, dual-energy x-ray absorptiometry (DXA) and whole body magnetic resonance imaging (MRI) to improve recognition of genetic lipodystrophies (specially FPLD);
- New genes related to genetic lipodystrophy syndromes;
- Treatments including pioglitazone, GLP-1 analogs, metreleptin and new medications in CGL and FPLD;
Meta-analyses are also allowed. Preference will be given to studies on humans;
* Reviews should be submitted only upon previous agreement with the Guest Editors – pre-submission enquiries required
Keywords: Genetic lipodystrophy, CGL, FPLD, diagnosis, management, treatment, leptin, comorbidities, complications
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