Points scoring system for familial chylomicronaemia syndrome79 80
Parameter | Points |
Fasting TG >10 mmol/L (at least 3 times; measured 1 month apart) | +5 |
Fasting TG >20 mmol/L (at least once) | +1 |
Previous TG <2 mmol/L | −5 |
No secondary factors (except pregnancy or oestrogen therapy) Exclude alcohol, diabetes, metabolic syndrome, hypothyroidism, corticosteroids and additional drugs | +2 |
History of pancreatitis | +1 |
Unexplained recurrent abdominal pain | +1 |
No history of FCHL | +1 |
TG response to drug therapy <20% | +1 |
Age of onset | |
<10 years | +3 |
<20 years | +2 |
<40 years | +1 |
FCS likely >10 pts; FCS unlikely <9 pts; FCS very unlikely <8 pts.
AUROC 0.91; Sensitivity 88%; Specificity 85%.
FCHL, familial combined hyperlipidaemia; FCS, familial chylomicronaemia syndrome; TG, triglycerides.