Combined Cardiohepatic Transplantation Due to Severe Heterozygous Familiar Hypercholesteremia Type II: First Case in Argentina—A Case Report

Ahualli, L.; Stewart-Harris, Alejandro; Bastianelli, Gustavo; Radlovachki, D.; Bartolomé, Ángel Hernández; Trigo, Pedro; Cejas, N; Soteras, Gabriel Aballay; Duek, Fernando; Lendoire, Javier; Imventarza, Oscar; Parisi, Coloma; Belforte, Sandro Mario; Maiolo, Elena; Castro, Claudia; Merino, Daniel; Picone, Victorio Próspero

doi:10.1016/j.transproceed.2007.07.068

Cited by 10 publications

(8 citation statements)

References 13 publications

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“…According to evidence, because about 75% of the LDL‐Rs are located in the liver, liver transplantation becomes the treatment of choice for homozygous FH (1). Liver transplantation provides a source of normal LDL‐Rs, which may clear cholesterol from plasma so effectively that the disease may be completely cured without additional medication (13–19) (Table 4). The liver is not the only source of LDL‐Rs; therefore, some cures may be incomplete, and patients may require additional medications to control the high cholesterol levels (11, 20–22).…”

Section: Resultsmentioning

confidence: 99%

Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia

Tevfik

Yankol

Kanmaz

et al. 2011

Pediatric Transplantation

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Section: Resultsmentioning

confidence: 99%

Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia

Tevfik

Yankol

Kanmaz

et al. 2011

Pediatric Transplantation

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Section: Indicationsmentioning

confidence: 99%

“…Familial hypercholesterolemia is a dominant inherited disease of low-density lipoprotein (LDL) caused by mutations of LDL receptors located in the hepatocyte, leading to severe cardiovascular disease in the second or third decade of life [5,16–18]. Typically CHLT is performed patients who have a homozygote genetic mutation, but can be performed for heterozygotes after failure of medical management [16,18]. Other treatments that are currently in use include lipid lowering medications; including statins, nicotinic acid and bezafibrates; plasma apheresis; partial ileal bypass; portacaval shunting; and isolated liver transplantation [16,18,19].…”

Section: Indicationsmentioning

confidence: 99%

“…Typically CHLT is performed patients who have a homozygote genetic mutation, but can be performed for heterozygotes after failure of medical management [16,18]. Other treatments that are currently in use include lipid lowering medications; including statins, nicotinic acid and bezafibrates; plasma apheresis; partial ileal bypass; portacaval shunting; and isolated liver transplantation [16,18,19]. CHLT leads to a reduction in lipid values to normal levels [1,19,20] and resolution of tuberous xanthomas [6].…”

Section: Indicationsmentioning

confidence: 99%

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Combined heart–liver transplantation: Indications, outcomes and current experience

Beal

Mumtaz

Hayes

et al. 2016

Transplantation Reviews

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Combined heart–liver transplantation is a rare, life-saving procedure that treats complex and often fatal diseases including familial amyloidosis polyneuropathy and late stage congenital heart disease status-post previous repair. There were 159 combined heart–liver transplantations performed between January 1, 1988 and October 3, 2014 in the United States. A multitude of potential techniques to be used for combined heart and liver transplant including: orthotopic heart transplant (OHT) and orthotopic liver transplant (OLT) on full cardiopulmonary bypass (CPB), OHT with CPB and OLT with venovenous bypass (VVB), OHT with CPB and OLT without VVB, enbloc technique and sequential transplantation. Outcomes of combined heart–liver transplant have been demonstrated to be comparable to outcomes of isolated heart and isolated liver transplant. The liver graft may provide some tolerance of other allografts © 2016 Elsevier Inc. All rights reserved.

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“…Information regarding LDLR mutations is limited to case reports in Argentina (18)(19)(20), Chile (31, 32), Costa Rica (33, 34), Cuba (35), Honduras (36), Panama (44), and Paraguay (45). Mutations reported in the majority of the cases were inherited from European or Afrikaner ancestors.…”

Section: Genetics Of Fh In Latin Americamentioning

confidence: 99%

The panorama of familial hypercholesterolemia in Latin America: a systematic review

Mehta

Zubirán

Martagón

et al. 2016

Journal of Lipid Research

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penetrance. Autosomal dominant FH is attributed to mutations in three different genes: LDL receptor (LDLR), APOB, and proprotein convertase subtilisin/kexin type 9 (PCSK9) (1,(3)(4)(5). Other FH genes have been searched for using exome sequencing without success (2). FH caused by mutations in LDLR adaptor protein (LDLRAP) is known as autosomal recessive FH (2). FH is the most common monogenic disorder leading to premature CHD; despite this fact, it is notoriously underdiagnosed and undertreated worldwide (6).Homozygous FH (HoFH) is characterized by extremely high levels of LDL-C (460-1,160 mg/dl) and early onset coronary artery disease (typically by the second decade of life) (7). Mean LDL-C concentration in untreated patients is close to 615 mg/dl (7,8). Patients are classified into two groups based on the level of LDLR activity, either <2% (receptor negative) or 2-25% (receptor defective). Receptor defective patients have a better prognosis than receptor negative cases (9-11).Heterozygous FH (HeFH) is caused by a single inherited copy of a mutation. The frequency of a heterozygous mutation is >90, 5, and <1% in the LDLR, APOB, and PCSK9 genes, respectively (5). A causal mutation in one of these genes is identified in 60-80% of cases. Affected individuals are characterized by LDL-C levels two to three times greater than normal (190-400 mg/dl). The mean untreated LDL-C concentration is 199.9 mg/dl (12). HeFH is suspected

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Combined Cardiohepatic Transplantation Due to Severe Heterozygous Familiar Hypercholesteremia Type II: First Case in Argentina—A Case Report

Cited by 10 publications

References 13 publications

Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia

Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia

Combined heart–liver transplantation: Indications, outcomes and current experience

The panorama of familial hypercholesterolemia in Latin America: a systematic review

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