We report two cases of hyperlipoproteinernia(HLP) with various cutaneous xanthomas. Case 1 was a 12-year-old girl, who had tuberous, tendinous, and plane cutaneous xanthomas and corneal arcus of the left eye. Case 2 was a 40-year-old man, who had tuberous, eruptive, and plane cutaneous xanthomas. Serum lipid and lipoprotein analysis reveoled patterns of Type IIa HLP in case 1 and, of Type IIb HLP, in case 2. They have been treated with diet control and hypolipidemic drugs and are under our continuing medical supervision.
Adult ; Child ; Female ; Humans ; Hyperlipoproteinemia Type II/diagnosis* ; Hyperlipoproteinemia Type II/drug therapy* ; Hypolipidemic Agents/therapeutic use* ; Lipoproteins ; Man ; Xanthomatosis/diagnosis ; Xanthomatosis/drug therapy

Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which occurs from the mutation of genes that regulates low-density lipoproteins (LDL), and is classified into two types, the homozygote presented abnormal genes from both parents and the heterozygote presented an abnormal gene from each parent. Type IIa familial hypercholesterolemia is characterized by, especially, increased level of LDL which is common type and normal level of high-density lipoproteins. The clinical signs are arterosclerosis, xanthoma of the Achilles tendons and the arcus cornea. The treatments are dietary and drug therapy. This report is a case of familial hypercholesterolemia diagnosed as type IIa hyperlipoproteinnemia with Insulin Dependent Diabetes Mellitus.
Achilles Tendon ; Cornea ; Diabetes Mellitus* ; Drug Therapy ; Heterozygote ; Homozygote ; Humans ; Hyperlipoproteinemia Type II* ; Hyperlipoproteinemias ; Insulin ; Lipoproteins, HDL ; Lipoproteins, LDL ; Parents ; Xanthomatosis

In recent studies, the reported prevalence of heterozygous familial hypercholesterolemia (FH) has been higher than in previous reports. Although cascade genetic screening is a good option for efficient identification of affected patients, diagnosis using only clinical criteria is more common in real clinical practice. Cardiovascular risk is much higher in FH patients due to longstanding low density lipoprotein cholesterol (LDL-C) burden and is also influenced by other risk factors. Although guidelines emphasize aggressive LDL-C reduction, the majority of patients cannot reach the LDL-C goal by conventional pharmacotherapy. Novel therapeutics such as proprotein convertase subtilisin/kexin type 9 inhibitors have shown strong lipid lowering efficacy and are expected to improve treatment results in FH patients.
Cholesterol, LDL ; Coronary Disease ; Diagnosis* ; Drug Therapy ; Genetic Testing ; Genetics ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Hyperlipoproteinemia Type II* ; Prevalence ; Proprotein Convertases ; Risk Factors

While introducing the indications of low-density lipoprotein (LDL) apheresis, LDL absorption systems were reviewed generally. As the key components for binding LDL, four kinds of ligands which are synthesized by different principles are: 1. Positively charged peptides designed according to state charge force between ligand and LDL; 2. Peptides designed according to structural characteristics of the binding site between LDL and its receptors; 3. Antibody of Lp (a) obtained by immunizing mammals with designed peptides with the characteristics of Lp (a); 4. Segments of LDL binding proteins (LBPs) synthesized with genetic engineering method based on the specific binding of LBPs to LDL. Requirements of matrices carrying these ligands are also considered. Finally, future developments in treatments of familial hypercholesterolemia by means of blood purification using synthesized peptides are overlooked.
Adsorption ; Drug Carriers ; Drug Design ; Female ; Hemoperfusion ; instrumentation ; methods ; Humans ; Hyperlipoproteinemia Type II ; blood ; therapy ; Ligands ; Lipoproteins, LDL ; blood ; isolation & purification ; Male ; Peptides ; chemical synthesis ; therapeutic use ; Receptors, LDL ; chemistry