Liver Transplantation for Homozygous Familial Hypercholesterolemia: Two Case Reports

“…On the other hand, lipid apheresis cannot prevent systemic complications. 16 The definitive treatment of familial hypercholesterolemia is liver transplant. [15][16][17] In our institution, orthotopic liver transplants were performed in 4 patients (aged 11, 12, 19, and 19 y) for familial hypercholesterolemia.…”

Section: Discussionmentioning

confidence: 99%

“…16 The definitive treatment of familial hypercholesterolemia is liver transplant. [15][16][17] In our institution, orthotopic liver transplants were performed in 4 patients (aged 11, 12, 19, and 19 y) for familial hypercholesterolemia. Before orthotopic liver transplant, aortic valve replacement was performed in 2 patients and coronary artery stenting was performed in 1 patient.…”

Section: Discussionmentioning

confidence: 99%

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Akdur

Kırnap²,

Soy³

et al. 2017

Exp Clin Transplant

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Objectives: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. Materials and Methods:The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. Results: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients. In the pediatric group, indications for liver transplant were Alagille syndrome (n = 5), Crigler-Najjar syndrome type 1 (n = 5), glycogen storage disease (n = 3), oxalosis (n = 3), familial hypercholesterolemia (n = 2), alpha-1-antitrypsin deficiency (n = 2), Caroli disease (n = 1), and cystic neuroblastoma metastasis (n = 1). Six patients (27.2%) had acute rejection episodes and were successfully treated with pulse steroids. In 2 patients, retransplant was performed for chronic rejection. Three patients died during follow-up (13.6%): 2 because of sepsis and 1 because of cranial hemorrhage. In the adult group, indications for liver transplant were neuroendocrine tumor metastasis (n = 1), liver angiosarcoma (n = 1), familial hypercholesterolemia (n = 2), alveolar hydatid disease (n = 2), cystic fibrosis (n = 1), congenital hepatic fibrosis (n = 1), and oxalosis (n = 1). Four patients (44.4%) had acute rejection episodes and were successfully treated with pulse steroid therapy. One patient died due to the recurrence of primary disease (liver angiosarcoma) during follow-up (11.1%). Conclusions: Advances in liver transplant and our understanding about unusual liver disease have led to significant improvements in managing these diseases. Liver transplant effectively treats the underlying defect and the complications of portal hypertension, or risk of malignancy for those disorders, in which the liver is affected.

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“…Los pacientes con HF heterocigota presentan aumento del colesterol que duplican aproximadamente los valores normales, xantomas tendinosos que aparecen después de los 20 años y mayor riesgo de enfermedad coronaria prematura. 15 La HF homocigota se presenta con un fenotipo mucho más grave, con valores de colesterol de 500-1000 mg%. Desde muy temprano en la infancia se pueden encontrar los xantomas cutáneos planos o tuberosos, los xantomas tendinosos y los arcos corneales.…”

Section: Comentariounclassified

“…El cuarto hermano comenzó tratamiento al año de edad con dieta y fármacos, y a los 15 años no presentaba xantomas ni evidencia de ECV. 14,15 En los casos presentados, ambos pacientes demoraron su tratamiento y la paciente 1 presentaba, ya en la primera consulta en nuestro centro, compromiso cardiovascular. Actualmente reciben tratamiento con buena respuesta.…”

Section: Comentariounclassified

Hipercolesterolemias graves en pediatría. Presentación de dos casos

et al. 2011

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RESUMENLa hipercolesterolemia familiar es uno de los trastornos genéticos más comunes y aporta información sustancial sobre papel etiológico que el colesterol LDL tiene para el desarrollo de la ateroesclerosis. Se presentan dos pacientes con hipercolesterolemia grave. Se remarca la importancia del diagnóstico y tratamiento temprano para evitar o demorar la enfermedad ateromatosa y la enfermedad coronaria precoz. Palabras clave: lípidos, hipercolesterolemia, hipercolesterolemias monogénicas, hipercolesterolemia familiar homocigota, tratamiento hipolipemiante. ABSTRACTFamilial hypercholesterolemia is one of the most common genetic disorders and it provides the best evidence on the etiologic role of LDL-colesterol for arteroesclerosis development. Two patients with severe hypercholesterolemia had been presented. Importance of early diagnosis and treatment has been stated to avoid or delay atherosclerosis and coronary heart disease.

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Liver Transplantation for Homozygous Familial Hypercholesterolemia: Two Case Reports

Cited by 31 publications

References 4 publications

I Diretriz Brasileira de Hipercolesterolemia Familiar (HF)

I Diretriz Brasileira de Hipercolesterolemia Familiar (HF)

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Hipercolesterolemias graves en pediatría. Presentación de dos casos

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