I Diretriz Brasileira de Hipercolesterolemia Familiar (HF)

Familial Hypercholesterolemia: the Importance of Early Diagnosis and Management

“…[1][2][3][4] The diagnosis is established by clinical and laboratory criteria and should always be a diagnostic hypothesis in patients with low-density lipoprotein cholesterol (LDLc) levels greater than 190 mg/dL; and can be confirmed by genetic tests that determine the mutation. 1,2 Some diagnostic criteria have been proposed in an attempt to standardize and formalize the diagnosis of FH, such as the Dutch Lipid Clinic Network (Dutch MEDPED).…”

“…[1][2][3][4] The diagnosis is established by clinical and laboratory criteria and should always be a diagnostic hypothesis in patients with low-density lipoprotein cholesterol (LDLc) levels greater than 190 mg/dL; and can be confirmed by genetic tests that determine the mutation. 1,2 Some diagnostic criteria have been proposed in an attempt to standardize and formalize the diagnosis of FH, such as the Dutch Lipid Clinic Network (Dutch MEDPED). 1 This calculates a patient score based on anamnesis data and physical and laboratory tests such as elevated rates of LDLc; characteristics such as tendinous xanthomas and corneal arch; family history of hypercholesterolemia and/or early coronary artery disease (man < 55 years and woman < 60 years) and identification of genetic mutations.…”

“…1,2 Some diagnostic criteria have been proposed in an attempt to standardize and formalize the diagnosis of FH, such as the Dutch Lipid Clinic Network (Dutch MEDPED). 1 This calculates a patient score based on anamnesis data and physical and laboratory tests such as elevated rates of LDLc; characteristics such as tendinous xanthomas and corneal arch; family history of hypercholesterolemia and/or early coronary artery disease (man < 55 years and woman < 60 years) and identification of genetic mutations. 1,3 The score determines the probability of an FH diagnosis as possible, probable or definitive FH.…”

“…1 This calculates a patient score based on anamnesis data and physical and laboratory tests such as elevated rates of LDLc; characteristics such as tendinous xanthomas and corneal arch; family history of hypercholesterolemia and/or early coronary artery disease (man < 55 years and woman < 60 years) and identification of genetic mutations. 1,3 The score determines the probability of an FH diagnosis as possible, probable or definitive FH. 1 The most common mutation related to FH is in the gene encoding the LDL receptor, resulting in LDL receptors with functional reductions in their ability to remove LDLc from the circulation.…”

“…1,3 The score determines the probability of an FH diagnosis as possible, probable or definitive FH. 1 The most common mutation related to FH is in the gene encoding the LDL receptor, resulting in LDL receptors with functional reductions in their ability to remove LDLc from the circulation. 3 There are two distinct phenotypes: the homozygous form, where two defective genes are inherited and LDL receptors have no functionality; a rare form,1 in 1 million individuals and in this case are observed LDL levels > 650 mg/dL; and the heterozygous form, where a gene defective to the LDL receptor is inherited from one parent and a normal gene from the other.…”