Plant sterol supplementation on top of lipid-lowering therapies in familial hypercholesterolemia

Machado, Valéria A.; Fonseca, Francisco Antônio Helfenstein; Fonseca, Henrique Andrade Rodrigues da; Malina, Daniela T.; Fonzar, Waléria T.; Barbosa, Silvio; Santana, José Marcos; Izar, Maria Cristina

doi:10.1016/j.ijcard.2015.03.063

Cited by 3 publications

(3 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, for most patients, dietary restriction of plant sterols is very difficult to adhere to ( 1 , 6 , 7 , 8 ); furthermore, especially in pediatric patients, growth retardation due to strict diet therapy should also be considered ( 1 , 13 ). Paradoxically, in other forms of hypercholesterolemia, a plant sterol-rich diet is usually recognized as being protective against coronary heart disease ( 14 ). Because the transporter protein NPC1L1 has a significant role in the intestinal absorption of cholesterol and plant sterols, ezetimibe (an NPC1L1 inhibitor) effectively inhibits the intestinal absorption of both cholesterol and plant sterols in sitosterolemia ( 15 , 16 , 17 ), and several reports have shown the effectiveness of ezetimibe in pediatric sitosterolemia ( 6 , 7 ).…”

Section: Discussionmentioning

confidence: 99%

A case of sitosterolemia due to compound heterozygous mutations in <i>ABCG5</i>: clinical features and treatment outcomes obtained with colestimide and ezetimibe

Ono

Matsuda

Saito

et al. 2017

Clin Pediatr Endocrinol

View full text Add to dashboard Cite

Abstract.Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the “ATP-binding cassette, subfamily G” member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24.6 mg/dL, campesterol: 19.2 mg/dL, stigmasterol: 1.8 mg/dL). Compound heterozygous mutations (p.R419H and p.R389H) were identified in ABCG5. The patient was placed on a low cholesterol/low plant sterol diet and treated with colestimide (a bile acid sequestrant) and ezetimibe (an NPC1L1 inhibitor). Serum T-Chol and LDL-C levels decreased to normal within 2 mo, and plant sterol levels decreased by 30% within 4 mo. The xanthomas regressed gradually, and almost completely disappeared after 1.5 yr of treatment. No further reductions of plant sterol levels were observed. Long-term follow-up is important to verify appropriate therapeutic goals to prevent premature atherosclerosis and coronary artery disease.

show abstract

Section: Discussionmentioning

confidence: 99%

A case of sitosterolemia due to compound heterozygous mutations in <i>ABCG5</i>: clinical features and treatment outcomes obtained with colestimide and ezetimibe

Ono

Matsuda

Saito

et al. 2017

Clin Pediatr Endocrinol

View full text Add to dashboard Cite

show abstract

“…5 Homozygous or compound heterozygous mutations in LDLR result in the particularly severe form of familial hypercholesterolemia, known as homozygous familial (or type II) hypercholesterolemia, in which hypercholesterolemia is profound, and premature cardiovascular disease can present in childhood. Therapy has included lipid lowering therapy (statins with or without ezetimibe, a cholesterol absorption inhibitor), 14 lipoprotein apheresis, plant sterol supplementation, 15 or new classes of agents including lomitapide and mipomersen.…”

Section: Discussionmentioning

confidence: 99%

Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia

Renner¹,

Connor

Steiner

2016

Clin Med Res

View full text Add to dashboard Cite

A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. When she subsequently presented with giant platelets, the case was presented to colleagues on an electronic mailing list. It was recommended that plasma and sterol analysis be performed, which led to a diagnosis of sitosterolemia. The presentation of profound hypercholesterolomia in childhood that ultimately is not attributed as due to homozygous or compound heterozygous defects in the LDL receptor gene has been termed pseudohomozygous familial (or type II) hypercholesterolemia (PHT2HC). Patients diagnosed with PHT2HC subsequently confirmed to have sitosterolemia have been previously reported only rarely. The challenge of achieving accurate specific diagnosis and appropriate workup for these conditions in children is discussed in the context of this rare case and review of the historical literature concerning these conditions.

show abstract

“…221 Em pacientes portadores de HF, o uso de fitosterol pode auxiliar no alcance de metas para o LDL-c, quando usado em associação com estatina/ezetimiba. 222 Dados de meta-análise sobre o efeito dos fitoesteróis em crianças demonstraram redução do colesterol total (7 a 11%) e do LDL-c (10 a 15%). 223 De acordo com o Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents, a suplementação de fitosteróis (2 g/dia) pode ser boa opção para crianças e adolescentes com HF que ainda não podem receber tratamento farmacológico, 224 pois eles são bem tolerados e não apresentam efeitos adversos significativos.…”

Section: Fitosteróisunclassified