Diagnosis, management and prognosis of familial hypercholesterolaemia in a UK tertiary cardiac centre

Figures & data

Figure 1. Overview of study design and eligibility criteria.

Table 1. Patient demographic and clinical characteristics (at first presentation, unless specified).

Patient demographic and clinical characteristics	Number of patients	% (n = 306)	Mean (SD) age at occurrence (years)	Median (IQR) age at occurrence (years)
Gender
Male	159	52%	-	-
Female	147	48%	-	-
Age (years)
Under 18	25	8%	-	-
18 < 30	30	10%	-	-
30 < 40	25	8%	-	-
40 < 50	56	18%	-	-
50 < 60	78	25%	-	-
60 < 70	69	23%	-	-
≥70	23	8%	-	-
Median age (years) = 51.8  Range (years) = 4.9–84.9
Ethnicity
White (British/Irish/Other)	228	75%	-	-
Asian (British/Asian)	32	10%	-	-
Black (British/African/American/Caribbean)	5	2%	-	-
Other	39	13%	-	-
Not recorded	2	1%	-	-
Comorbidities-^a
Hypertension	31	10%	-	-
Diabetes mellitus	12	4%	-	-
Liver disease	0	0%	-	-
Renal disease	0	0%	-	-
Pancreatic disease	0	0%	-	-
Thyroid disease	19	6%	-	-
Other	62	20%	-	-
None	159	55%	-	-
Not known/not recorded	33	11%	-	-
Body Mass Index (n = 176)
Underweight (<18.5)	6	3%	-	-
Healthy weight (18.5–24.99)	52	30%	-	-
Overweight (25–29.99)	76	43%	-	-
Obese (30 or over)	42	24%	-	-
Smoking status
Current smoker	48	16%	-	-
Ex-smoker	67	22%	-	-
Never smoked	168	55%	-	-
Not recorded	23	8%	-	-
Alcohol consumption
Consumes	154	50%	-	-
Does not consume	88	29%	-	-
Not recorded	64	21%	-	-
Blood pressure
Low (<90/60)	1	0.3%	-	-
Ideal (90/60–120/80)	70	23%	-	-
Pre-high (>120/80 – <140/90)	89	29%	-	-
High (≥140/90)	45	15%	-	-
Not known/not recorded	101	33%	-	-
Prior CV events (not mutually exclusive)
MI	32	10%	45.8 (11.6)	45.6 (38.7–54.0)
CVA	3	1%	46.9 (17.5)	46.9 (40.7–53.1)
TIA	5	2%	56.7 (14.8)	57.5 (48.8–65.4)
Unstable angina	15	5%	51.9 (12.4)	47.2 (41.8–58.4)
CABG	17	6%	46.3 (9.0)	46.0 (40.6–52.2)
PCI/PTCA	45	15%	50.7 (10.9)	48.4 (43.7–58.6)
Target vessel revascularisation	8	3%	56.4 (10.6)	56.4 (49.5–60.5)
Drug treatments for FH (not mutually exclusive)
Statins (overall)	150	49%	-	-
Atorvastatin	75	25%	-	-
Rosuvastatin	18	6%	-	-
Simvastatin	51	17%	-	-
Pravastatin	4	1%	-	-
High intensity statin treatment	83	27%	-	-
Ezetimibe (overall)^b	26	8%	-	-
Bile acid sequestrant	1	0.3%	-	-
Fibrate	11	4%	-	-
Nicotinic acid	1	0.3%	-	-
Other (omega 3)	6	2%	-	-

^aNot mutually exclusive

^bAll patients on 10 mg

CABG: Coronary artery bypass graft; CV: Cardiovascular; CVA: Non-fatal cerebrovascular accident; FH: Familial hypercholesterolaemia; IQR: Interquartile range; LDL: Low density lipoprotein; MI: Non-fatal myocardial infarction; PCI/PTCA: Percutaneous coronary intervention/percutaneous transluminal coronary angioplasty; SD: Standard deviation; TIA: Transient ischaemic attack

Table 2. Treatments prescribed for FH during the evaluation period.

Treatment^a	Number of patients	% (n = 269)
Statins (overall)	241	90%
Atorvastatin	142	53%
Rosuvastatin	89	33%
Simvastatin	62	23%
Pravastatin	16	6%
High-intensity statin treatment	161	60%
Atorvastatin 20–80 mg	111	41%
Rosuvastatin 10–40 mg	67	25%
Simvastatin 80 mg	0	0%
Ezetimibe	97	36%
Fibrates	18	7%
Other (omega 3)	20	7%
No drug treatments recorded/prescribed	20	7%
Lipoprotein apheresis	11	4%

^aNumber of patients on each drug not mutually exclusive

Table 3. Low density lipoprotein (LDL) cholesterol – highest ever and most recent measurements during the 3-year observation period.

	Overall		Females		Males
LDL cholesterol (mmol/L)	Highest ever	Most recent	Highest ever	Most recent	Highest ever	Most recent
Number of results	143	143	74	74	69	69
Mean	6.0	3.6	6.0	3.8	6.0	3.5
SD	1.4	1.3	1.6	1.4	1.2	1.2
Median	5.8	3.4	5.8	3.3	5.8	3.4
IQR	5.3–6.5	2.8–4.1	5.2–6.8	2.8–4.2	5.3–6.5	2.7–4.1
Range	0.8–10.5	1.3–8.2	0.8–10.5	1.8–8.1	3.0–9.7	1.3–8.2

Only includes patients with paired data (i.e. measurements available at both time points).

IQR: Interquartile range; LDL: Low density lipoprotein; SD: Standard deviation