Homozygous Familial Hypercholesterolemia: Anesthetic Challenges and Review of Literature

2017 ◽  
Vol 11 (4) ◽  
pp. NP83-NP87
Author(s):  
Suruchi Ladha ◽  
Neeti Makhija ◽  
Usha Kiran ◽  
Sudheer K Aarav
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Hereditary Disease ◽  
Left Ventricular ◽  
Review Of Literature ◽  
Homozygous Familial Hypercholesterolemia ◽  
Low Density Lipoprotein Cholesterol ◽  
Mechanical Prosthesis ◽  
Severe Left Ventricular Dysfunction

Homozygous familial hypercholesterolemia (HoFH; Fredrickson IIa) is a rare autosomal dominant hereditary disease associated with increased low-density lipoprotein cholesterol. We hereby report anesthetic challenges in a rare case of HoFH having severe progressive aortic stenosis, mitral regurgitation, diffuse aortic and carotid vessel involvement, and severe left ventricular dysfunction. The patient underwent a Konno aortoventriculoplasty with mechanical prosthesis along with mitral valve repair.

scholarly journals Long-term use of a combination of atorvastatin and ezetimibe in children with homozygous familial hypercholesterolemia

2017 ◽  
Vol 5 (1) ◽  
pp. 275
Author(s):  
Devi Dayal ◽  
Keerthivasan Seetharaman ◽  
Savita Bhunwal ◽  
Nimisha Jain
Keyword(s):  
Familial Hypercholesterolemia ◽  
Genetic Disorder ◽  
Low Density Lipoprotein ◽  
Lipoprotein Metabolism ◽  
Density Lipoprotein ◽  
Lipid Lowering ◽  
Homozygous Familial Hypercholesterolemia ◽  
Limited Data ◽  
Low Density Lipoprotein Cholesterol

Background: Homozygous familial hypercholesterolemia (HoFH) is an underdiagnosed and undertreated genetic disorder of lipoprotein metabolism associated with mortality during young age due to accelerated atherosclerosis. There is limited data on the efficacy of lipid lowering therapies in HoFH. Methods: Medical records of 3 children with HoFH who received a combination of atorvastatin and ezetimibe for a mean duration of 11.6±1.5 years were retrospectively analysed. Results: There was a significant decrease in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) from the baseline levels (mean percent change in TC, LDL-C, TG and HDL-C of 58.5%, 56.2%, 67.5% and 29.7% respectively). Conclusions: We conclude that long-term use of a combination of atorvastatin and ezetimibe significantly lowers the plasma LDL-C concentrations in patients with HoFH without causing any significant adverse effects. Ours is the first study from India on long-term use of lipid modifying drug therapy in children with HoFH.

Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia

2002 ◽  
Vol 12 (2) ◽  
pp. 105-112 ◽  
Author(s):  
Adnan M. Al-Shaikh ◽  
Mustafa H. Abdullah ◽  
Andrew Barclay ◽  
Geraldine Cullen-Dean ◽  
Brian W. McCrindle
Keyword(s):  
Familial Hypercholesterolemia ◽  
Surgical Intervention ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Receptor Activity ◽  
Lipoprotein Cholesterol ◽  
Low Density ◽  
Homozygous Familial Hypercholesterolemia ◽  
Low Density Lipoprotein Cholesterol ◽  
Lipoprotein Receptors

Objective: To relate clinical factors to the development of cardiovascular atherosclerosis for patients with homozygous familial hypercholesterolemia. Background: Homozygous familial hypercholesterolemia is associated with extreme elevations in levels of cholesterol causing aggressive atherosclerosis. Methods: We reviewed 10 children, 8 of whom were male, assessed at a single institution. We found that individual characteristics, levels of lipid, cardiovascular investigations, and management were related to the activity of low density lipoprotein receptors. Results: Activity of low density lipoprotein receptors was defined as absent, being less than 2% of normal, in 4 patients who presented at the ages of 0.3, 1.4, 1.8, and 4.5 years, respectively. The activity was minimal, representing 5%–30% of normal, in another 4 patients presenting at the ages of 6.1, 9.6, 9.9, and 12 years, and was undetermined in 2 patients who presented at the ages of 3.5, and 12.1 years. Levels of low density lipoprotein cholesterol at presentation ranged from 12.2 to 24 millimoles per litre. Plasmapheresis was performed bi-weekly in 9 patients. Patients with absence of receptor activity were less likely to have a serial decrease in the levels of low density lipoprotein cholesterol prior to plasmapheresis, and one of these patients was increased to weekly plasmapheresis. In addition, they had more aggressive cardiovascular involvement of the coronary arteries, aortic valve and aorta, requiring surgical intervention at the age of 8 and 12 years in 2 patients, with sudden death at the age of 3.1 years in one patient. In contrast, 1 patient with minimal receptor activity had surgical intervention at the age of 16.6 years and another patient died suddenly at the age of 33.6 years. Conclusion: Complete cardiac assessment is recommended at presentation. The frequency of plasmapheresis should be adjusted according to the activity of low density lipoprotein receptors and the individual response of the patient.

Clinical implications and outcomes of the ORION Phase III trials

2020 ◽  
Author(s):  
Julia Brandts ◽  
Kausik K Ray
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Phase Iii ◽  
Atherosclerotic Cardiovascular Disease ◽  
Low Density Lipoprotein Cholesterol ◽  
Clinical Safety ◽  
Phase Iii Trials ◽  
Phase Ii And Iii ◽  
Ongoing Phase

Inclisiran is a siRNA inhibiting hepatic PCSK9 synthesis. As a first-in-class therapy, inclisiran has been assessed within the ORION trial program for its low-density lipoprotein cholesterol (LDL-C) lowering efficacy and clinical safety. Phase II and III trials have shown that inclisiran lowers LDL-C by about 50% with an infrequent dosing schedule in patients with established atherosclerotic cardiovascular disease and those at high risk, including patients with heterozygous familial hypercholesterolemia. Ongoing Phase III trials will provide evidence on longer-term safety and effectiveness, and inclisiran’s efficacy in patients with homozygous familial hypercholesterolemia. Furthermore, the ORION-4 trial will assess inclisiran’s impact on cardiovascular outcomes.

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