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Homozygous Familial Hypercholesterolemia: Case Series and Review of the Literature
- Source :
- Case Reports in Transplantation, Vol 2011 (2011), Case Reports in Transplantation
- Publication Year :
- 2011
- Publisher :
- Hindawi Limited, 2011.
-
Abstract
- Introduction. Familial hypercholesterolemia (FH) is caused by nonfunctioning low-density lipoprotein (LDL) receptors, resulting in high serum cholesterol. Two types of FH are described: the heterozygous form is diagnosed in adults and responds well to medical therapy; the homozygous form is rare, diagnosed in children, and often requires multiple treatments to prevent complications. Cholesterol accumulation in tissues produces common clinical manifestations including cutaneous xanthomas, coronary artery disease, and aortic stenosis. Treatment options consist of lifestyle modifications, lipid-lowering medications, LDL aphaeresis, and orthotopic liver transplantation (OLT).Case Presentation. Two patients with FH presented at young ages due to characteristic cutaneous xanthomas. The patients underwent cardiac testing that revealed atherosclerotic changes. The patients received maximal medical therapy, but only experienced a small decrease in serum cholesterol and LDL levels. After several years of medical treatment without improvement of symptoms, the patients were listed for OLT. The transplantations were successful, and only one patient had a postoperative complication of acute rejection, treated successfully. Currently, both patients are doing well with regression of the cutaneous xanthomas and atherosclerotic changes.Conclusion. OLT is a safe and effective option for patients with homozygous FH refractory to maximal medical therapy and may represent the optimal treatment for these patients.
- Subjects :
- medicine.medical_specialty
Medical treatment
Cholesterol
business.industry
lcsh:Surgery
Postoperative complication
Case Report
Familial hypercholesterolemia
lcsh:RD1-811
medicine.disease
Gastroenterology
Surgery
Coronary artery disease
chemistry.chemical_compound
Stenosis
chemistry
Refractory
Management of Technology and Innovation
Internal medicine
medicine
business
Lipoprotein
Subjects
Details
- Language :
- English
- ISSN :
- 20906951 and 20906943
- Volume :
- 2011
- Database :
- OpenAIRE
- Journal :
- Case Reports in Transplantation
- Accession number :
- edsair.doi.dedup.....b14d2c4ea4bf9dd209ce6cd3e186b09e