Familial Hypercholesterolaemia (FH) – NICE Guidance on a Page

Diagnosis

Diagnosis: Simon Broome criteria includes: Fx, Signs (Xanthomata), Cholesterol levels and DNA
Absence of signs does not preclude diagnosis
Pedigree Hx of at least 3 generation to include: age onset CHD, Lipid concentrations and smoking Hx
For children at risk (one affected parent) offer DNA test and LDL-C measurements, if both affected parents then test < 5 yrs
Cascade testing should be offered: DNA & LDL-C measurements

Familial Hypercholesteroaemia diagnosis: Total Cholesterol > 7.5 mmol/l (6.7 mmol/l if under 16) consider diagnosis OR Low density Lipoprotein Cholesterol (LDL-C) > 4.9 mmol/l (4.0 mmol/l if under 16), PLUS tendon xanthomata in first or second degree relative
LDL > 13 mmol/l (Adults) > 11 mmol/l (Children) consider clinical diagnosis of homozygous FH

Smoking strongly discouraged
Diet: total fat < 30 % of total energy intake, saturated fat < 7% total, total cholesterol intake < 300 mg/day and unsaturated fats replacing saturated fat; 5 portions fruit and vegetables a day; 2 portions fish (one oily) per week
Exercise: 30 mins a day 5 days per week of moderate intensity (bouts > 10 mins as effective as longer sessions)
Alcohol men 3-4 units a day; women 2-3 units

Statins (lifelong) are the initial treatment
Dose titrated to maximum licenced in order to achieve < 50% baseline LDL-C
Ezetimibe (reduce cholesterol absorption) should be offered in hetergygous disease, and intolerant to statin therapy (new onset muscle pain, altered LFT, GI disturbance)
If unable to control LDL-C to an appropriate individual risk with initial statin, then offer concomitant Ezetimibe
If unable to reduce < 50% baseline LDL-C
Those FH patients with 2 or more cardiovascular risk factors, established or family Hx of premature CHD should be referred for specialist treatment
Specialist treatment may include bile acid sequestrants resin), Nicotinic acid or fibrate (Gemfibrozil)
Fat soluble vitamin supplements should be considered alongside bile acid sequestrants
LDL apheresis offered in instance of progressive symptomatic CHD
Liver transplantation should be considered with homozygous disease in which lipid lowering and apheresis are not successful