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. 2021 Mar 19;28(5):417–434. doi: 10.5551/jat.56762

Table 4. Cascade screening strategies implemented in the Asia Pacific region 25 , 60 - 63) .

Country or region Study subjects Summary of findings References
Hong Kong SAR, China
  • • 132 families were screened

  • • Potential probands recruited if total cholesterol (TC) > 7.5 mmol/L and/or LDL-C > 4.9 mmol/L without secondary causes

  • • 87 screened patients (66%) were clinically diagnosed with HeFH

  • • Among 314 first-degree relatives of probands or their affected relatives, 165 subjects (53%) with clinical HeFH were identified:

→ 83% of these subjects were previously unaware of

having HeFH

60)
Hong Kong SAR, China
  • • Of 98 index patients with a clinical diagnosis of FH and/or severe hypercholesterolemia, 94 unrelated probands were identified

  • • 62 probands carried definite or likely pathogenic mutations

  • • 167 first- and second-degree relatives of probands with causative mutations ( n = 45) attended screening

  • • 36 first-degree relatives of probands without mutations attended screening

  • • In total, 122 relatives were identified to have FH, of which:

→ 48 (39%) were newly diagnosed

→ 74 (61%) were aware of having hypercholesterolemia, although 53% of these relatives had never been treated or had stopped treatment

61)
India
  • • 31 families of mutation positive probands were screened using bidirectional Sanger sequencing ( n = 28) or MLPA technique ( n = 3)

  • • Cascade screening was undertaken in 133 family members:

→ 88 (66%) carried the family mutation

→ 15 (11%) had CAD

→ 63 (47%) were already taking lipid lowering therapy

→ 12 were children <18 years of age:

  • ▪ 3 children had clinically homozygous phenotype

  • ▪ 5 children had very high LDL cholesterol levels (550.4±152.2 mg/dL)

62)
Vietnam
  • • 4 families of individuals with a presumptive diagnosis of HoFH were screened using genetic and cholesterol testing

  • • Cascade screening was undertaken in 107 family members:

→ Of 89 who were genetically screened, an FH mutation was found in 47 including 3 homozygotes and 44 heterozygotes

→ Among the 47 mutation positive individuals, 18 were children aged <18 years

→ 9 additional relatives had “likely FH” based on the Starr et al criteria 63)

→ Only 5 (9%) of relatives with FH were subsequently treated due to:

  • ▪ Cost of treatment

  • ▪ Lack of patient knowledge about FH

  • ▪ Lack of local doctors’ knowledge about FH

25)