ABSTRACT
Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH.
ABSTRACT
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder that presents as abnormally elevated levels of low-density lipoprotein cholesterol and premature heart disease, requiring frequent intervention through lipid apheresis for management. The risk of perioperative cardiac events is higher in patients with HoFH because of its pathophysiological manifestations in the vascular system. Careful cardiac precautions and anesthetic assessments are necessary to ensure patient safety. In the following case report, we discuss the clinical course and anesthetic considerations for a 14-year-old girl with HoFH undergoing sedation for dental extractions and mandibular molar uprighting in an outpatient oral surgery clinic. Considerations included the use of heparin in the patient's weekly plasma lipid apheresis treatment. In order to reduce the risks of peri- and postoperative bleeding and perioperative cardiac events, the operation was scheduled for 4 days after apheresis. This allowed for adequate heparin clearance, while also reducing the likelihood of possible cardiac events. A literature review revealed no results for the outpatient management of patients with HoFH undergoing sedation for noncardiac procedures. Our reported case serves as a clinical example for physicians to be utilized in the future.
Subject(s)
Adolescent , Female , Humans , Anesthesia, Dental , Blood Component Removal , Cholesterol , Heart Diseases , Hemorrhage , Heparin , Hyperlipoproteinemia Type II , Lipoproteins , Molar , Outpatients , Patient Safety , Plasma , Surgery, OralABSTRACT
OBJECTIVE: To review the pharmacological actions and related clinical research about the efficacy and safety of lomitapide, which is a new kind of medication for cholesterol disorder-microsomal triglyceride transfer protein inhibitor. METHODS: The domestic and oversea pertinent literatures since 2007 were searched. RESULTS: Lomitapide can performe well in clinic effects and tolerance for homozygous familial hypercholesterolemia. CONCLUSION: Lomitapide can be an effective adjuvant for patients with homozygous familial hypercholesterolemia.
ABSTRACT
La hipercolesterolemia familiar es uno de los trastornos genéticos más comunes y aporta información sustancial sobre papel etiológico que el colesterol LDL tiene para el desarrollo de la ateroesclerosis. Se presentan dos pacientes con hipercolesterolemia grave. Se remarca la importancia del diagnóstico y tratamiento temprano para evitar o demorar la enfermedad ateromatosa y la enfermedad coronaria precoz.
Familial hypercholesterolemia is one of the most common genetic disorders and it provides the best evidence on the etiologic role of LDL-colesterol for arteroesclerosis development. Two patients with severe hypercholesterolemia had been presented. Importance of early diagnosis and treatment has been stated to avoid or delay atherosclerosis and coronary heart disease.