scholarly journals Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

2021 ◽  
Vol 20 (6) ◽  
pp. 2893
Author(s):  
A. V. Blokhina ◽  
A. I. Ershova ◽  
A. N. Meshkov ◽  
O. M. Drapkina

Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently studied and is extremely rarely diagnosed. In actual clinical practice, physicians do not have clear understanding of clinical course and genetic basis of FD. The aim was to present the most complete, but at the same time a critical review with a modern view on FD. We analyzed Russian and foreign publications from following electronic databases: PubMed, eLIBRARY, Google Scholar. As a result, the phenotypic features and genetic variability of the disease were considered and the main issues of diagnosis and treatment of patients with FD were discussed. The data presented will help the clinician to timely suspect the FD, conduct a full range of investigations and prescribe evidence-based lipid-lowering therapy.

2014 ◽  
Vol 63 (12) ◽  
pp. A1413
Author(s):  
JoAnne Foody ◽  
Temitope O. Olufade ◽  
Dena Ramey ◽  
Howard Friedman ◽  
Prakash Navaratnam ◽  
...  

2020 ◽  
Vol 16 (4) ◽  
pp. 644-653
Author(s):  
M. V. Zhuravleva ◽  
A. B. Prokofiev ◽  
E. V. Shikh ◽  
S. Yu. Serebrova ◽  
G. I. Gorodetskaya ◽  
...  

Current guidelines for the management of patients with dyslipidemia define low-density lipoprotein cholesterol (LDL-C) as the primary target in addressing lipid-lowering therapy. The target level of LDL-C in real clinical practice is achieved in no more than a third of patients who have undergone a coronary event and receive high-intensity lipid-lowering therapy. Achieving the goals of lipid-lowering therapy in a significant proportion of patients with atherosclerotic cardiovascular diseases (ACVD) is impossible with the use of even high doses of statins, which requires its enhancement by other drugs. The article considers the place of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in the prevention of cardiovascular diseases in patients with ACVD in accordance with the latest Russian and international guidelines. A modern decision-making algorithm for the initiation of PCSK9 inhibitors therapy in patients with ACVD is presented. The authors provide a clear understanding about the patient populations that will benefit most from the taking of PCSK9 inhibitors. Particular attention is paid to Guidelines for the management of dyslipidemias developed by European Society of Cardiology and European Atherosclerosis Society in 2019. The issues of patients provision with PCSK9 inhibitors with reference to Russian conditions are described in details in accordance with the requirements for territorial programs of state guarantees. Further improvement in the provision of PCSK9 inhibitors to patients with indications for this therapy is necessary, considering the potential of these drugs in reducing cardiovascular morbidity and mortality in patients with ACVD.


2000 ◽  
Vol 160 (9) ◽  
pp. 1361 ◽  
Author(s):  
Terry A. Jacobson ◽  
Godfrey G. Griffiths ◽  
Cristina Varas ◽  
Douglas Gause ◽  
Jennifer C. Y. Sung ◽  
...  

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