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A case of hyperLp(a)aemia, associated with systemic lupus erythematosus, suffering from myocardial infarction and
1Department of Internal Medicine, Fukui Prefectural Hospital, Japan.
Insights
This case study highlights a young male with systemic lupus erythematosus (SLE) and high lipoprotein(a) (Lp(a)) levels experiencing heart and brain infarctions. LDL apheresis effectively reduced Lp(a) and cholesterol, suggesting it as a therapy for resistant hyperLp(a)aemia.
Area of Science:
- Cardiology
- Nephrology
- Genetics
Background:
- Systemic lupus erythematosus (SLE) can present with nephrotic syndrome.
- Hyperlipoproteinemia(a) (hyperLp(a)aemia) is a risk factor for cardiovascular disease.
- Genetic factors contribute to elevated Lp(a) levels.
Observation:
- An 18-year-old male with SLE and nephrotic syndrome developed myocardial and cerebral infarctions.
- The patient exhibited hypercholesterolemia and significantly elevated serum Lp(a) levels (197 mg/dl), with familial hyperLp(a)aemia noted.
- The proband possessed the Lp(a) phenotype S2/4, linked to high Lp(a) concentrations.
Findings:
- Initial treatment with CS-514 (HMG-CoA reductase inhibitor) reduced Lp(a) levels but they remained high.
- Low-density lipoprotein (LDL) apheresis using a Liposorber system led to substantial reductions in total cholesterol (57%), LDL cholesterol (62%), and Lp(a) levels (68%).
Implications:
- LDL apheresis demonstrates potential as an effective therapeutic option for managing drug-resistant hyperLp(a)aemia.
- This case underscores the complex interplay between autoimmune disease, genetic lipid disorders, and cardiovascular risk.
- Further research into LDL apheresis for hyperLp(a)aemia in SLE patients is warranted.
Abstract:
We describe a case of systemic lupus erythematosus (SLE) with nephrotic syndrome who suffered from myocardial infarction and cerebral infarction associated with hyperLp(a)aemia. The proband was an 18-year-old Japanese male who was found to have hypercholesterolemia and hyperLp(a)aemia, with a serum total cholesterol level of 361 mg/dl and a serum Lp(a) level of 197 mg/dl. His father and mother showed higher Lp(a)levels (26 and 56 mg/dl, respectively) than those in normals (18 +/- 0.6 mg/dl, mean +/- SE). Lp(a)glycoprotein phenotypes were examined. The proband had the phenotype S2/4, which is associated with high Lp(a) concentration. His parents had the phenotype S3/4 and S2/4. No cardiovascular diseases were noted in other members of his family. After treatment with CS-514, a competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase. Lp(a) levels decreased from 197 to 121 mg/dl, but still remained abnormally high. LDL apheresis using a Liposorber system was attempted in this patient. Total and LDL cholesterol levels decreased by 57 and 62%, respectively. Lp(a) levels decreased by 68%. These results suggest that LDL apheresis may be an alternative therapy in drug resistant hyperLp(a)aemia.