Liver Transplant Combined With Heart Transplant in Severe Heterozygous Hypercholesterolemia: Report of the First Case and Review of the Literature

SUMMARYThe genetic causes of cholesterol metabolism disorders usually lead to premature atherosclerosis. The most well recognized genetically caused hypercholesterolemia is familial hypercholesterolemia. Although the disease is well known, as the discovery of low-density lipoprotein receptor, the classical treatment with lipid-lowering drugs (statins, fibrates, ezetimibe, colesevelam) is still not adequate and new options are seeking. This review is an attempt to analyze the microsomal transfer protein (MTP) inhibitors as a new approach for treatment of familial hypercholesterolemia, to reviews the literature according to MTP inhibitors and finally to provide original findings.

show abstract

“…Thus, the liver transplantation can offer an efficient treatment for homozygous familial hypercholesterolemia [63][64][65].…”

Section: Liver Transplantationmentioning

confidence: 99%

Microsomal Transfer Protein Inhibitors, New Approach for Treatment of Familial Hypercholesterolemia, Review of the Literature, Original Findings, and Clinical Significance

Kolovou

Vasiliadis

Gontoras

et al. 2015

Cardiovascular Therapeutics

View full text Add to dashboard Cite

show abstract

“…In contrast, one intriguing case report described an FH patient with a myocardial infarction at age 26 and markedly elevated, statin-resistant LDL cholesterol; the patient had two heterozygous LDLR mutations in exons 6 and 9 in cis. 5 Although the genetics of that case report are different than the patient presented here, both cases nonetheless support the concept of an unusually severe 'heterozygous' FH phenotype associated with dual variants in a single LDLR allele.…”

Section: Discussionmentioning

confidence: 46%

“…Such drugs are generally not effective in FH homozygotes, and treatment in homozygotes or severe heterozygotes may consist of LDL apheresis, portacaval anastomosis, and liver transplantation. 5,6 Materials and methods…”

Section: Introductionmentioning

confidence: 99%

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

et al. 2008

View full text Add to dashboard Cite

Familial hypercholesterolemia (FH) is the most common form of autosomal-dominant hypercholesterolemia, and is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is characterized by elevated low-density lipoprotein (LDL) cholesterol and early-onset cardiovascular disease, whereas homozygous FH results in more severe LDL cholesterol elevation with death by 20 years of age. We present here the case of an African-American female FH patient presenting with a myocardial infarction at the age of 48, recurrent angina pectoris and numerous coronary artery stents. Her pretreated LDL cholesterol levels were more typical of a homozygous FH pattern and she was resistant to conventional lipid-lowering treatment, yet her other clinical parameters were not necessarily consistent with homozygous FH. Genetic testing revealed two LDLR variants on the same chromosome: one a novel missense mutation in exon 14 (Cys681Gly) and the other a promoter variant (IVS1-217C4T) previously shown to result in increased LDLR transcription. Disease-associated PCSK9 or APOB mutations were not identified in this individual. Overall, her genetic and clinical profile suggests that enhanced expression of the mutant LDLR allele resulted in a severe phenotype with characteristics of both heterozygous and homozygous FH.

show abstract

“…Deceased donor graft can provide the effective therapy for the recipient. Even for the patients with severe heterozygous FH, liver transplantation combined with heart transplant was performed and had a good result 10) . On the other hand LDLT from the close relatives as donors are controversial.…”

Section: Resultsmentioning

confidence: 99%

Long-term Outcome after Living Donor Liver Transplantation for Two Cases of Homozygous Familial Hypercholesterolemia from a Heterozygous Donor

Kawagishi

Satoh

Akamatsu

et al. 2007

JAT

View full text Add to dashboard Cite

Liver Transplant Combined With Heart Transplant in Severe Heterozygous Hypercholesterolemia: Report of the First Case and Review of the Literature

Cited by 35 publications

References 7 publications

Microsomal Transfer Protein Inhibitors, New Approach for Treatment of Familial Hypercholesterolemia, Review of the Literature, Original Findings, and Clinical Significance

Microsomal Transfer Protein Inhibitors, New Approach for Treatment of Familial Hypercholesterolemia, Review of the Literature, Original Findings, and Clinical Significance

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

Long-term Outcome after Living Donor Liver Transplantation for Two Cases of Homozygous Familial Hypercholesterolemia from a Heterozygous Donor

Contact Info

Product

Resources

About