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. 2021 Oct;117(4):782-844.
doi: 10.36660/abc.20210788.

Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021

[Article in English, Portuguese]
Maria Cristina de Oliveira Izar  1 , Viviane Zorzanelli Rocha Giraldez  2   3 , Adriana Bertolami  4 , Raul Dias Dos Santos Filho  5 , Ana Maria Lottenberg  6   7 , Marcelo Heitor Vieira Assad  8 , José Francisco Kerr Saraiva  9 , Ana Paula M Chacra  2 , Tania L R Martinez  10 , Luciana Ribeiro Bahia  11 , Francisco Antonio Helfenstein Fonseca  1 , Andre Arpad Faludi  4 , Andrei C Sposito  12 , Antônio Carlos Palandri Chagas  13 , Cinthia Elim Jannes  2 , Cristiane Kovacs Amaral  4 , Daniel Branco de Araújo  4 , Dennys Esper Cintra  12 , Elaine Dos Reis Coutinho  14 , Fernando Cesena  15 , Hermes Toros Xavier  16 , Isabela Cardoso Pimentel Mota  4 , Isabela de Carlos Back Giuliano  17 , José Rocha Faria Neto  18 , Juliana Tieko Kato  1 , Marcelo Chiara Bertolami  4 , Marcio Hiroshi Miname  2 , Maria Helane Costa Gurgel Castelo  19   20   21 , Maria Sílvia Ferrari Lavrador  6 , Roberta Marcondes Machado  7 , Patrícia Guedes de Souza  22 , Renato Jorge Alves  23 , Valeria Arruda Machado  1 , Wilson Salgado Filho  2
Affiliations

Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021

[Article in English, Portuguese]
Maria Cristina de Oliveira Izar et al. Arq Bras Cardiol. 2021 Oct.
No abstract available

PubMed Disclaimer

Figures

Figura 1
Figura 1. Xantoma tendinoso em tendão calcâneo.
Figura 2
Figura 2. Xantoma plano.
Figura 3 (A e B)
Figura 3 (A e B). Xantomas tuberosos em joelhos.
Figura 4
Figura 4. Xantomas tuberosos em mãos.
Figura 5
Figura 5. Arco córneo.
Figura 6
Figura 6. Exemplo de rastreamento genético em cascata. DNA: ácido desoxirribonucleico.
Figura 7
Figura 7. Fluxograma de tratamento da HF heterozigótica (He) em prevenção secundária (muito alto risco).
AIT: ataque isquêmico transitório; AVC: acidente vascular cerebral; DAC: doença arterial coronariana; DAP: doença arterial periférica; HF: hipercolesterolemia familiar; LDL-C: colesterol da lipoproteína de baixa densidade; MEV: mudança de estilo de vida.
Figura 8
Figura 8. Fluxograma de tratamento da HF heterozigótica (He) em prevenção primária (alto risco). HF: hipercolesterolemia familiar; LDL-C: colesterol da lipoproteína de baixa densidade; SC: subcutâneo.
*São considerados fatores de risco adicionais na HF: idade > 40 anos e sem tratamento, tabagismo, sexo masculino, Lp(a) > 50 mg/dL, HDL-c < 40 mg/ dL, hipertensão arterial, diabetes melito, história familiar de DAC prematura em parentes de 1º grau (homens < 55 anos e mulheres < 60 anos), doença renal crônica (TFG < 60 ml/min) e IMC > 30 kg/m2.
Figura 9
Figura 9. Fluxograma de tratamento da HF heterozigótica (He) em prevenção primária (risco intermediário). HF: hipercolesterolemia familiar; LDL-C: colesterol da lipoproteína de baixa densidade; SC: subcutâneo.
*São considerados fatores de risco adicionais na HF: idade > 40 anos e sem tratamento, tabagismo, sexo masculino, Lp(a) > 50 mg/dL, HDL-c < 40 mg/ dL, hipertensão arterial, diabetes melito, história familiar de DAC prematura em parentes de 1º grau (homens < 55 anos e mulheres < 60 anos), doença renal crônica (TFG < 60 ml/min) e IMC > 30 kg/m2.
Figura 10
Figura 10. Fluxograma de tratamento da HF homozigótica (Ho) em prevenção secundária. AIT: ataque isquêmico transitório; AVC: acidente vascular cerebral; DAC: doença arterial coronariana; DAP: doença arterial periférica; HF: hipercolesterolemia familiar; LDL-C: colesterol da lipoproteína de baixa densidade; MEV: mudança de estilo de vida.
Figura 11
Figura 11. Fluxograma de tratamento da HF homozigótica (Ho) em prevenção primária. AIT: ataque isquêmico transitório; AVC: acidente vascular cerebral; DAC: doença arterial coronariana; DAP: doença arterial periférica; HF: hipercolesterolemia familiar; LDL-C: colesterol da lipoproteína de baixa densidade; MEV: mudança de estilo de vida; MTP: proteína de transferência de triglicerídeos microssomal.
Figura 12
Figura 12. Algoritmo de triagem laboratorial de hipercolesterolemia familiar em crianças e adolescentes. Adaptado de Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents; Wiegman A, et al.
DAC: Doença arterial coronariana; HF: hipercolesterolemia familiar; CT: Colesterol total; LDL: Low-density lipoprotein. *Improvável HF: a ausência de critérios laboratoriais para HF não significa que outra dislipidemia não esteja presente. A criança ou adolescente com níveis de perfil lipídico fora do valor de referência para sua faixa etária deverá seguir com avaliação clínica. Importante avaliar causas secundárias nesta faixa etária: disfunção renal, tireoidiana, HIV, doenças auto-imunes, diabetes e obesidade, dentre outras. **Mudança de estilo de vida e orientação nutricional; vide seção terapia não farmacológica. ***Quando disponível o teste genético deve ser ofertado. ****Avaliação clínica: sinais clínicos como xantomas, xantelasma, arco corneano e espessamento de tendões devem ser avaliados. Descartar condições clínicas não HF que cursam com hipercolesterolemia. Escores de Dutch devem ser aplicados nesta etapa. *****Vide seção: Particularidades no manejo do paciente com HFo
Figura 13
Figura 13. Algoritmo do Manejo da hipercolesterolemia familiar em crianças e adolescentes. Adaptado de Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents; Wiegman A, et al.
HF: hipercolesterolemia familiar; LDL: Low-density lipoprotein; DAC: Doença Arterial Coronariana; RCV: Risco Cardiovascular. *Todas as crianças devem ser submetidas a terapia não farmacológica: Vide seção terapia não farmacológica. **Em crianças menores de 8 anos a decisão por terapia farmacológica deverá ser avaliada de forma individualizada, em geral, para pacientes heterozigotos graves ou homozigotos. ***Se LDL > 130 mg/dL, sem comprometimento aterosclerótico, optar por tratamento não-farmacológico. ****Vide seção fatores relacionados ao aumento do RCV.
Figura 14
Figura 14. Algoritmo de tratamento de crianças e adolescentes com hipercolesterolemia familiar homozigótica. HF: hipercolesterolemia familiar.
Figure 1
Figure 1. Tendon xanthoma in the Achilles tendon.
Figure 2
Figure 2. Planar xanthoma.
Figure 3 (A e B)
Figure 3 (A e B). Tuberous xanthomas on the knees.
Figure 4
Figure 4. Tuberous xanthomas on the hands.
Figure 5
Figure 5. Corneal arcus.
Figure 6
Figure 6. Example of cascade genetic screening.
Figure 7
Figure 7. Treatment flowchart for heterozygous familial hypercholesterolemia in secondary prevention (very high-risk patients).
CAD: coronary artery disease; FH: familial hypercholesterolemia; LDL-C: low-density lipoprotein cholesterol; PAD: peripheral artery disease; SC: subcutaneously; TIA: transient ischemic attack.
Figure 8
Figure 8. Treatment flowchart for heterozygous familial hypercholesterolemia in primary prevention (high-risk patients). LDL-C: low-density lipoprotein cholesterol; SC: subcutaneously.
*Additional risk factors in FH are the following: age > 40 years and no treatment, smoking, being male, Lp(a) > 50 mg/dL, HDL-C < 40 mg/dL, hypertension, diabetes mellitus, family history of premature CAD in rst-degree relatives (men aged < 55 years and women aged < 60 years), chronic kidney disease (GFR < 60 mL/min), and BMI > 30 kg/m2.
Figure 9
Figure 9. Treatment flowchart for heterozygous familial hypercholesterolemia in primary prevention (intermediate-risk patients). LDL-C: low-density lipoprotein cholesterol; SC: subcutaneously.
*Additional risk factors in FH are the following: age > 40 years and no treatment, smoking, being male, Lp(a) > 50 mg/dL, HDL-C < 40 mg/dL, hypertension, diabetes mellitus, family history of premature CAD in rst-degree relatives (men aged < 55 years and women aged < 60 years), chronic kidney disease (GFR < 60 mL/min), and BMI > 30 kg/m2.
Figure 10
Figure 10. Treatment flowchart for homozygous familial hypercholesterolemia in secondary prevention. CAD: coronary artery disease; HoFH: homozygous familial hypercholesterolemia; LDL-C: low-density lipoprotein cholesterol; MTP: microsomal triglyceride transfer protein; PAD: peripheral artery disease; SC: subcutaneously; TIA: transient ischemic attack.
Figure 11
Figure 11. Treatment flowchart for homozygous familial hypercholesterolemia in primary prevention. CAD: coronary artery disease; HoFH: homozygous familial hypercholesterolemia; LDL-C: low-density lipoprotein cholesterol; MTP: microsomal triglyceride transfer protein; PAD: peripheral artery disease; SC: subcutaneously; TIA: transient ischemic attack.
Figure 12
Figure 12. Laboratory screening algorithm for familial hypercholesterolemia in children and adolescents. Adapted from Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents; Wiegman A, et al.
CAD: coronary artery disease; FH: familial hypercholesterolemia; LDL-C: low-density lipoprotein cholesterol; TC: total cholesterol. *Improbable FH: absence of laboratory criteria for FH does not mean that a different dyslipidemia is not present. Children or adolescents with lipid profile levels outside the reference range for their age group should undergo a clinical assessment. Secondary causes should be assessed in this age group: kidney or thyroid dysfunction, HIV, autoimmune diseases, diabetes, and obesity, among others. **Lifestyle changes and nutritional guidance; see nonpharmacological therapy section. ***When available, genetic testing should be provided. ****Clinical assessment: clinical signs such as xanthomas, xanthelasma, corneal arcus, and thickened tendon should be assessed. Rule out non-FH clinical conditions that co-occur with hypercholesterolemia. Dutch scores should be used at this stage. *****See peculiarities in the management of patients with HoFH section
Figure 13
Figure 13. Management algorithm for familial hypercholesterolemia in children and adolescents. Adapted from Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents; Wiegman A, et al.
CAD: coronary artery disease; CV: cardiovascular; FH: familial hypercholesterolemia; LDL-C: low-density lipoprotein cholesterol. *All children should undergo a nonpharmacological therapy. See nonpharmacological therapy section. **In children under 8 years of age, the decision on drug therapy should be individualized, e.g. for cases of severe heterozygous or homozygous FH. ***If LDL-C > 130 mg/dL with no atherosclerotic involvement, choose nonpharmacological treatment. ****See factors related to increased cardiovascular risk section.
Figure 14
Figure 14. Treatment algorithm for homozygous familial hypercholesterolemia in children and adolescents. FH: familial hypercholesterolemia.
See this image and copyright information in PMC

References

    1. Burns FS. A contribution to the study of the etiology of xanthoma multiplex. Arch Derm Syphilol. 1920;2(4):415–429.
    2. Burns FS. A contribution to the study of the etiology of xanthoma multiplex. Arch Derm Syphilol. 1920; 2(4):415-29.
    1. Ose L. An update on familial hypercholesterolaemia. Ann Med. 1999;31(Suppl 1):13–18. - PubMed
    2. Ose L. An update on familial hypercholesterolaemia. Ann Med. 1999; 31(Suppl 1):13-8. - PubMed
    1. Müller C. Xanthomata, hypercholesterolemia and angina pectoris. Acta Med Scand Suppl. 1938;89:75–84.
    2. Müller C. Xanthomata, hypercholesterolemia and angina pectoris. Acta Med Scand Suppl. 1938; 89:75-84.
    1. Brown MS, Goldstein JL. Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor bound low density lipoprotein. Cell. 1976;9(4 Pt 2):663–674. - PubMed
    2. Brown MS, Goldstein JL. Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor bound low density lipoprotein. Cell. 1976; 9(4 Pt 2):663-74. - PubMed
    1. Brown MS, Goldstein JL. Receptor-mediated control of cholesterol metabolism. Science. 1976;191(4223):150–154. - PubMed
    2. Brown MS, Goldstein JL. Receptor-mediated control of cholesterol metabolism. Science. 1976; 191(4223):150-4. - PubMed