Rare dyslipidemias are genetically and clinically heterogeneous group of rare inherited metabolic disorders (in general, rare diseases could be defined as those with incidences less than 5/10,000). Types of rare dyslipidaemia include but not limited to, homozygous familial hypercholesterolemia, hyperchylomicronemia, hypertriglyceridemia, hypoalphalipoproteinemia, hyperlipoproteinaemia, lysosomal acid lipase deficiency etc. For their diagnostic evaluation, besides clinical and laboratory diagnostics, genetic diagnostics is paramount. Management of rare dyslipidemias is frequently challenging. New information resulting from genetic studies has provided important insights into the pathogenesis of rare dyslipidemias and has enabled discoveries of new drug targets. In addition, with better and more accessible genetic diagnostic possibilities, there has been a growing clinical interest in rare dyslipidemias.
This Research Topic aims to provide a comprehensive view of topical areas related to rare dyslipidemias in the form of research articles, case reports and review articles. Case reports will only be accepted if they highlight unique cases of human or animal patients that present with an unexpected/diagnosis, treatment outcome, or clinical course. We encourage submissions that show the use of animal models, cell based models, or intersection of -omics technologies to improve discoveries about rare dyslipidemias to further our knowledge about predictive and precision medicine. In addition, submissions pertaining to pathophysiological mechanisms of novel drug targets such as ANGPTL3, novel therapies like MTP-, apoB- and PCSK9 inhibitors, HDLmimetic infusions and gene editing (CRISPR/Cas9) and management of rare dyslipidaemia are also welcome.
The following themes will be covered in this collection:
1. Genetic Background of Rare Dyslipidemias
2. Epidemiology of Rare Dyslipidemias
3. Screening and Diagnostics for Rare Dyslipidemias
4. Genetic Diseases and Rare Genetic Syndromes with Dyslipidemias
5. Current and Future Therapies for Rare Dyslipidemias
Topic Editor Robert Hegele received financial support from Acasti, Aegerion, Akcea/Ionis, Amgen, Arrowhead, HLS Therapeutics, Novartis, Pfizer, Regeneron and Sanofi and Topic Editor
Segreteria Catapano received financial support from Aegerion, Amgen, Amryt, Astrazeneca, Bayer, Daiichi-Sankyo, Eli Lilly, Genzyme, Ionis Pharmaceutical, Kowa, Mediolanum, Medscape, Menarini, Merck, Mylan, Novartis, PeerVoice, Pfizer, Recordati, Regeneron, Sanofi,
Sigma-Tau, The Corpus. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Rare dyslipidemias are genetically and clinically heterogeneous group of rare inherited metabolic disorders (in general, rare diseases could be defined as those with incidences less than 5/10,000). Types of rare dyslipidaemia include but not limited to, homozygous familial hypercholesterolemia, hyperchylomicronemia, hypertriglyceridemia, hypoalphalipoproteinemia, hyperlipoproteinaemia, lysosomal acid lipase deficiency etc. For their diagnostic evaluation, besides clinical and laboratory diagnostics, genetic diagnostics is paramount. Management of rare dyslipidemias is frequently challenging. New information resulting from genetic studies has provided important insights into the pathogenesis of rare dyslipidemias and has enabled discoveries of new drug targets. In addition, with better and more accessible genetic diagnostic possibilities, there has been a growing clinical interest in rare dyslipidemias.
This Research Topic aims to provide a comprehensive view of topical areas related to rare dyslipidemias in the form of research articles, case reports and review articles. Case reports will only be accepted if they highlight unique cases of human or animal patients that present with an unexpected/diagnosis, treatment outcome, or clinical course. We encourage submissions that show the use of animal models, cell based models, or intersection of -omics technologies to improve discoveries about rare dyslipidemias to further our knowledge about predictive and precision medicine. In addition, submissions pertaining to pathophysiological mechanisms of novel drug targets such as ANGPTL3, novel therapies like MTP-, apoB- and PCSK9 inhibitors, HDLmimetic infusions and gene editing (CRISPR/Cas9) and management of rare dyslipidaemia are also welcome.
The following themes will be covered in this collection:
1. Genetic Background of Rare Dyslipidemias
2. Epidemiology of Rare Dyslipidemias
3. Screening and Diagnostics for Rare Dyslipidemias
4. Genetic Diseases and Rare Genetic Syndromes with Dyslipidemias
5. Current and Future Therapies for Rare Dyslipidemias
Topic Editor Robert Hegele received financial support from Acasti, Aegerion, Akcea/Ionis, Amgen, Arrowhead, HLS Therapeutics, Novartis, Pfizer, Regeneron and Sanofi and Topic Editor
Segreteria Catapano received financial support from Aegerion, Amgen, Amryt, Astrazeneca, Bayer, Daiichi-Sankyo, Eli Lilly, Genzyme, Ionis Pharmaceutical, Kowa, Mediolanum, Medscape, Menarini, Merck, Mylan, Novartis, PeerVoice, Pfizer, Recordati, Regeneron, Sanofi,
Sigma-Tau, The Corpus. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
