Familial hypercholesterolemia diagnostic criteria
Dutch Lipid Clinical Network (DLCN) score
Unlikely FH
0
Family history
First-degree relative with known premature (men: < 55 years; women: < 60 years) coronary or vascular disease
First-degree relative with known LDL‑C above the 95th percentile
First-degree relative with tendinous xanthomata and / or arcus cornealis
Children < 18 years of age with LDL‑C above the 95th percentile
Clinical history
Patient with premature (men: < 55 years; women: < 60 years) coronary artery disease
Patient with premature (men: < 55 years; women: < 60 years) cerebral or peripheral vascular disease
Physical examination
Tendinous xanthomata
Arcus cornealis before age 45 years
LDL-C levels
Patient LDL‑C range [mmol/L (mg/dL)]
< 4.0 (< 155)
Molecular genetic testing (DNA analysis)
Causative mutation shown in the LDLR, APOB, or PCSK9 genes
Επιπλέον πληροφορίες
Προειδοποίηση
Αυτό το εργαλείο προορίζεται μόνο για εκπαιδευτικούς σκοπούς, δεν αντιπροσωπεύει και δεν αντικαθιστά επαγγελματικές συμβουλές. Αυτό το εργαλείο δεν πρέπει να χρησιμοποιείται για την παροχή ιατρικών διαγνώσεων ή/και ιατρικών θεραπειών.
General description
Diagnosis of familial hypercholesterolemia (FH) relies on five criteria: family history, clinical history of premature CHD, physical examination for xanthomas and corneal arcus, very high LDL cholesterol on repeated measurements, and/or a causative mutation detected by molecular genetics. Secondary causes of hyperlipidaemia must be excluded by determining that liver enzymes, renal function, and thyroid hormones are normal and that there is no hyperglycaemia or albuminuria. Estimation of the pre-treatment levels of LDL cholesterol is recommended in patients already taking lipid-lowering agents.
The Dutch Lipid Clinic Network (DLCN) criteria are recommended in order to establish the clinical diagnosis of FH. Among individuals with a definite or probable diagnosis of FH (DLCN > 5), and particularly those with an obvious clinical diagnosis with xanthoma and/or high cholesterol plus a family history of premature CHD, molecular genetic testing is strongly recommended. When a causative mutation is found in the index case, a genetic test should be offered to all first degree relatives.
Diagnosis of familial hypercholesterolemia (FH) relies on five criteria: family history, clinical history of premature CHD, physical examination for xanthomas and corneal arcus, very high LDL cholesterol on repeated measurements, and/or a causative mutation detected by molecular genetics. Secondary causes of hyperlipidaemia must be excluded by determining that liver enzymes, renal function, and thyroid hormones are normal and that there is no hyperglycaemia or albuminuria. Estimation of the pre-treatment levels of LDL cholesterol is recommended in patients already taking lipid-lowering agents.
The Dutch Lipid Clinic Network (DLCN) criteria are recommended in order to establish the clinical diagnosis of FH. Among individuals with a definite or probable diagnosis of FH (DLCN > 5), and particularly those with an obvious clinical diagnosis with xanthoma and/or high cholesterol plus a family history of premature CHD, molecular genetic testing is strongly recommended. When a causative mutation is found in the index case, a genetic test should be offered to all first degree relatives.
Reference values
Unlikely FH
0–2Possible FH
3–5Probable FH
6–8Definite FH
> 8Scoring
Family history:
First-degree relative with known premature (men: < 55 years; women: < 60 years) coronary or vascular disease (1 point)
First-degree relative with known LDL‑C above the 95th percentile (1 point)
First-degree relative with tendinous xanthomata and / or arcus cornealis (2 points)
Children < 18 years of age with LDL‑C above the 95th percentile (2 points)
First-degree relative with known premature (men: < 55 years; women: < 60 years) coronary or vascular disease (1 point)
First-degree relative with known LDL‑C above the 95th percentile (1 point)
First-degree relative with tendinous xanthomata and / or arcus cornealis (2 points)
Children < 18 years of age with LDL‑C above the 95th percentile (2 points)
Clinical history:
Patient with premature (men: < 55 years; women: < 60 years) coronary artery disease (2 points)
Patient with premature (men: < 55 years; women: < 60 years) cerebral or peripheral vascular disease (1 point)
Patient with premature (men: < 55 years; women: < 60 years) coronary artery disease (2 points)
Patient with premature (men: < 55 years; women: < 60 years) cerebral or peripheral vascular disease (1 point)
Physical examination:
Tendinous xanthomata (6 points)
Arcus cornealis before age 45 years (4 points)
Tendinous xanthomata (6 points)
Arcus cornealis before age 45 years (4 points)
LDL-C levels [mmol/L (mg/dL)]:
< 4.0 (< 155) (0 points)
4.0–4.9 (155–190) (1 point)
5.0–6.4 (191–250) (3 points)
6.5–8.4 (251–325) (5 points)
≥ 8.5 (≥ 325) (8 points)
< 4.0 (< 155) (0 points)
4.0–4.9 (155–190) (1 point)
5.0–6.4 (191–250) (3 points)
6.5–8.4 (251–325) (5 points)
≥ 8.5 (≥ 325) (8 points)
Molecular genetic testing (DNA analysis):
Causative mutation shown in the LDLR, APOB, or PCSK9 genes (8 points)
Causative mutation shown in the LDLR, APOB, or PCSK9 genes (8 points)
References
Defesche JC, Lansberg PJ, Umans-Eckenhausen MA, Kastelein JJ. Advanced method for the identification of patients with inherited hypercholesterolemia. Semin Vasc Med 2004;4:59 – 65.
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease : Consensus Statement of the European Atherosclerosis Society. European Heart Journal. 2013;34(45):3478-3490.
The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. European Heart Journal. 2016;37:2999–3058.
Έκδοση
4
Σχετικά με αυτό το εργαλείο
Diagnosis of familial hypercholesterolemia (FH) relies on five criteria: family history, clinical history of premature CHD, physical examination for xanthomas and corneal arcus, very high LDL cholesterol on repeated measurements, and/or a causative mutation detected by molecular genetics. Secondary causes of hyperlipidaemia must be excluded by determining that liver enzymes, renal function, and thyroid hormones are normal and that there is no hyperglycaemia or albuminuria. Estimation of the pre-treatment levels of LDL cholesterol is recommended in patients already taking lipid-lowering agents.
The Dutch Lipid Clinic Network (DLCN) criteria are recommended in order to establish the clinical diagnosis of FH. Among individuals with a definite or probable diagnosis of FH (DLCN > 5), and particularly those with an obvious clinical diagnosis with xanthoma and/or high cholesterol plus a family history of premature CHD, molecular genetic testing is strongly recommended. When a causative mutation is found in the index case, a genetic test should be offered to all first degree relatives.
The Dutch Lipid Clinic Network (DLCN) criteria are recommended in order to establish the clinical diagnosis of FH. Among individuals with a definite or probable diagnosis of FH (DLCN > 5), and particularly those with an obvious clinical diagnosis with xanthoma and/or high cholesterol plus a family history of premature CHD, molecular genetic testing is strongly recommended. When a causative mutation is found in the index case, a genetic test should be offered to all first degree relatives.
