Coexisting type III hyperlipoproteinemia and familial hypercholesterolemia: A case report
| Autor: | Nobuyuki Ohte, Takao Fujinami, Seiji Iwata, Takeshi Hibino, Nagahiko Sakuma, Masanobu Kawaguchi, Mitoshi Kunimatsu, Takayoshi Ichikawa, Yoshinobu Kamiya, Hirohisa Kawahara, Reiko Ikeuchi |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Apolipoprotein E medicine.medical_specialty Apolipoprotein B Endocrinology Diabetes and Metabolism Familial hypercholesterolemia Xanthoma Hyperlipoproteinemia Type II Niceritrol Apolipoproteins E Endocrinology Internal medicine Hyperlipoproteinemia Type III Xanthomatosis medicine Humans Triglycerides biology Chemistry Hypertriglyceridemia Plasmapheresis medicine.disease Pedigree Cholesterol Phenotype biology.protein lipids (amino acids peptides and proteins) Clinofibrate medicine.drug |
| Zdroj: | Metabolism. 44:460-465 |
| ISSN: | 0026-0495 |
| DOI: | 10.1016/0026-0495(95)90052-7 |
| Popis: | A 39-year-old man presented with type III hyperlipoproteinemia in association with heterozygous familial hypercholesterolemia (FH). He had extensive tuberous xanthomas over the knees and elbows and xanthomas in the Achilles tendons. He also had palmar xanthomas. He exhibited severe hypercholesterolemia and hypertriglyceridemia. This patient was heterozygous for FH, as evidenced by low low-density lipoprotein (LDL) receptor function on lymphocytes, and had type III hyperlipoproteinemia, as determined by apolipoprotein (apo) E phenotype 2/2 in isoelectric focusing of the E isoproteins and the presence of a broad beta band on electrophoresis. Because therapy consisting of diet restrictions and lipid-lowering agents such as clinofibrate and niceritrol did not decrease serum total cholesterol ([TC] 15.26 mmol/L) and triglyceride ([TG] 10.79 mmol/L) levels effectively, the patient underwent plasmapheresis once every 2 weeks using a dextran sulfate-cellulose column. Repeated plasmapheresis markedly reduced serum TC and TG and induced complete regression of the palmar xanthoma after 6 months. The severity of tuberous xanthomas on the knees and elbows was reduced after 2.5 years. After plasmapheresis, TC decreased to 1.94 mmol/L from 10.40 mmol/L and TG decreased to 0.33 mmol/L from 7.90 mmol/L. Plasmapheresis performed with a dextran sulfate-cellulose column was highly effective in removing the lipoprotein-remnant particles in this patient, leading to generalized improvement in the lipoprotein profile. |
| Databáze: | OpenAIRE |
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