| Both clinical phenotypic diagnosis and genetic diagnosis can be used for FH screening and diagnosis, with the former being the basis for the latter; genetic diagnosis can help confirm FH diagnosis and family screening, but the absence of pathogenic mutations cannot exclude FH.[220, 249-251]
|
I |
B |
| LDL-C target values for adult patients with FH:[251] < 2.6 mmol/L without ASCVD; <1.8 mmol/L with subclinical ASCVD; < 1.4 mmol/L with clinical ASCVD. |
IIa |
B |
| LDL-C target values for children and adolescents with FH (< 18 years old):[251-254] without ASCVD < 3.5 mmol/L or ≥ 50% reduction from baseline; with subclinical ASCVD < 2.6 mmol/L and ≥ 50% reduction from baseline; with clinical ASCVD < 1.8 mmol/L and ≥ 50% reduction from baseline. |
IIa |
C |
| Single or combination LDL-C-lowering drugs, including statins, cholesterol absorption inhibitors, PCSK9 inhibitors, etc., are selected according to LDL-C compliance needs and individual tolerances. |
I |
A |
| HoFH patients can be combined with Mipomersen, Lomitapide, Evinacumab (all approved abroad). |
I |
B |
| Maximum tolerated dose drug therapy for HoFH or severe phenotype HeFH patients with suboptimal LDL-C is recommended in combination with lipoprotein apheresis therapy at least every 2 weeks. |
I |
C |
| Children with suspected HeFH should be diagnosed as early as possible (no later than 10 years of age); initiation of statin therapy is recommended for diagnosed individuals with LDL-C ≥ 4.7 mmol/L twice after lifestyle intervention (≥ 8 years of age); combination of cholesterol absorption inhibitors may be indicated after statin therapy ≥ 4.0 mmol/L (≥ 10 years of age).[251-255]
|
I |
B |
| Children with suspected HoFH should be diagnosed as early as possible (preferably before 2 years of age); those diagnosed should start statins combined with cholesterol absorption inhibitors as early as possible (preferably before 2 years of age); start lipoprotein apheresis as early as possible (preferably before 5 years of age and no later than 8 years of age), once every 1-2 weeks; ≥12 years of age can be combined with PCSK9 monoclonal antibody, Mipomersen or Evinacumab.[251,252,254-256]
|
I |
B |
| Young patients with severe phenotype HoFH who have poor drug efficacy and cannot be treated with regular lipoprotein apheresis may be considered for liver transplantation prior to cardiovascular involvement; those who have developed rapidly progressive ASCVD or severe aortic stenosis should be considered for combined heart-liver transplantation.[251, 257-259]
|
IIb |
C |
