Familial hypercholesterolemia의 fasting lipid profile
Fasting lipid profile – The characteristic fasting lipid profile in patients with FH consists of elevated total and low density lipoprotein cholesterol with normal or low high-density lipoprotein cholesterol and normal triglyceride (TG) levels (unless the patient is obese, has diabetes, or other mutations in triglyceride-regulating genes, in which case TG levels may also be elevated). Elevated TG levels do not exclude the diagnosis of FH; however, other potential causes of hypertriglyceridemia should be considered.
Diagnosis
Heterozygous familial hypercholesterolemia (FH) 의 진단은 유전자 검사 또는 임상 기준으로 이루어집니다. LDLR, APOB 또는 PCSK9 유전자의 원인 돌연변이가 이 진단을 보장합니다.
유전자 검사를 이용할 수 없거나 필요하지 않다고 생각되는 경우, Dutch Lipid Clinic Network criteria(표 1)을 사용하여 저밀도 지단백 콜레스테롤(LDL-C) 수치, 초기 죽상 경화성 심혈관 질환( ASCVD)의 개인력, 조기 ASCVD의 가족력, 또는 first-degree relative의 고콜레스테롤 및 개인 및 신체 검사 결과에 근거하여 점수를 할당합니다.
Dutch Lipid Clinic Network diagnostic criteria for familial hypercholesterolaemia
|
Criteria |
Points |
|
1) Family history |
|
|
First-degree relative with known premature (men: <55 years; women: <60 years) coronary or vascular disease, or First-degree relative with known LDL-C above the 95th percentile |
1 |
|
First-degree relative with tendinous xanthomata and/or arcus cornealis, or Children <18 years of age with LDL-C above the 95th percentile |
2 |
|
2) Clinical history |
|
|
Patient with premature (men: <55 years; women: <60 years) coronary artery disease |
2 |
|
Patient with premature (men: <55 years; women: <60 years) cerebral or peripheral vascular disease |
1 |
|
3) Physical examination |
|
|
Tendinous xanthomata |
6 |
|
Arcus cornealis before age 45 years |
4 |
|
4) LDL-C levels |
|
|
LDL-C ≥8.5 mmol/L (325 mg/dL) |
8 |
|
LDL-C 6.5-8.4 mmol/L (251-325 mg/dL) |
5 |
|
LDL-C 5.0-6.4 mmol/L (191-250 mg/dL) |
3 |
|
LDL-C 4.0-4.9 mmol/L (155-190 mg/dL) |
1 |
|
5) DNA analysis |
|
|
Functional mutation in the LDLR, apoB, or PCSK9 gene |
8 |
|
Choose only one score per group, the highest applicable diagnosis (diagnosis is based on the total number of points obtained) A "definite" FH diagnosis requires >8 points A "probable" FH diagnosis requires 6-8 points A "possible" FH diagnosis requires 3-5 points |
|
FH: familial hypercholesterolaemia; LDL-C: low-density lipoprotein-cholesterol.
* Exclusive of each other (ie, maximum six points if both are present).
Reprinted from: Familial hypercholesterolaemia (FH) : report of a second WHO consultation, Geneva, 4 September 1998. World Health Organization, p. 13, Copyright © 1998. Available at: http://apps.who.int/iris/handle/10665/66346 (Accessed on April 9, 2013).
다른 정의는 영국에서 주로 사용되는 Simon Broome Register Group의 정의입니다. 이것은 환자를 definite 또는 probable heterozygous FH로 구분합니다.
Homozygous FH의 임상적 진단 기준은 다음과 같다.
● Untreated LDL-C >500 mg/dL 또는 treated LDL-C ≥300 mg/dL
그리고
• 10 세 이전의 피부 또는 tendon xanthoma 또는
• 부모 모두에서 heterozygous FH와 일치하는 높은 LDL-C 수준
그러나, untreated LDL-C levels <500은 특히 어린 아이들에서 homozygous FH를 배제하지 않는다는 점에 유의하는 것이 중요합니다.
REF. UpToDate 2019.08.24
