Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

Jannes, Cinthia E.; Silva, Pãmela R. de Souza; Turolla, Luciana; Gagliardi, Ana Carolina Moron; Marsiglia, Júlia Daher Carneiro; Chacra, Ana Paula Marte; Miname, Márcio H.; Filho, Wilson Albino Pimentel; Krieger, José Eduardo; Pereira, Alexandre C.

doi:10.1016/j.atherosclerosis.2014.11.009

Cited by 84 publications

(66 citation statements)

References 29 publications

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“…This has been demonstrated in the Netherlands 34) and reaffirmed in Wales 35) , Brazil 36) , and Australia 37) , whereby first-degree relatives of index cases are cascade screened with genetic testing.…”

Section: Introductionmentioning

confidence: 82%

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

Pang

Lansberg

Watts

2016

JAT

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Section: Introductionmentioning

confidence: 82%

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

Pang

Lansberg

Watts

2016

JAT

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“…They speculated that the frequency of FH mutations may vary from state to state depending on the ethnic background of the inhabitants. Recently, Jannes et al (27) described 248 index cases; an FH-causing mutation (LDLR, APOB, or PCSK9 genes) was found in 125 subjects (50.4%). After analyzing index cases and mutation-positive relatives (n = 359), 70 different causal mutations in the LDLR (97.2%) and 2 in APOB (2.8%) were found.…”

Section: Methodsmentioning

confidence: 99%

“…In accordance with LDLR variants reported in LOVD-Select Database (http://www.ucl.ac.uk/ldlr). 43), and two were from Brazil (27,30). Total cholesterol and LDL-C levels were lower in these subjects than in FH patients with LDLR mutations.…”

Section: Genetics Of Fh In Latin Americamentioning

confidence: 99%

“…From 125 index cases with confirmed mutations, 394 relatives were genetically screened, resulting in 234 (59.4%) individuals with pathological mutations. Therefore, for every index case, 1.8 affected relatives were identified (27). GENYCO (from "Genes y Colesterol" in Spanish) is the national program for early detection and treatment of FH in Uruguay.…”

Section: Apob Mutationsmentioning

confidence: 99%

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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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“…This precludes many from conducting cascade screening because of already overtaxed physician and medical staff, and additional personnel must either be hired or designated specifically (at least part-time) for this task. Several countries [10][11][12][13][14][15][16][17] have organized centralized services that provide these services for a larger region; however, these programs require additional funding to support this infrastructure.…”

Section: Infrastructurementioning

confidence: 99%

Cascade Screening in Familial Hypercholesterolemia: Advancing Forward

Santos

Frauches

Chacra

2015

J Atheroscler Thromb

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Familial hypercholesterolemia is a genetic disorder associated with elevated LDL-cholesterol and high lifetime cardiovascular risk. Both clinical and molecular cascade screening programs have been implemented to increase early definition and treatment. In this systematic review, we discuss the main issues found in 65 different articles related to cascade screening and familial hypercholesterolemia, covering a range of topics including different types/strategies, considerations both positive and negative regarding cascade screening in general and associated with the different strategies, cost and coverage consideration, direct and indirect contact with patients, public policy around life insurance and doctor -patient confidentiality, the "right to know," and public health concerns regarding familial hypercholesterolemia.J Atheroscler Thromb, 2015; 22: 869-880.

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Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

Cited by 84 publications

References 29 publications

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

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

Cascade Screening in Familial Hypercholesterolemia: Advancing Forward

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