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CORONARY HEART DISEASE CHD, FAMILIAL HYPERCHOLESTEROLEMIA (FH)Familial…
CORONARY HEART DISEASE 
FAMILIAL HYPERCHOLESTEROLEMIA (FH)
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DIAGNOSIS
Genetic testing
o LDLR
o APOB
o PCK9
o Expensive diagnostics (Mudgundi et al., 2018)
Clinical criteria
3 criteria schemes:
o Simon Broome
o Dutch Lipid Clinic
o MEDPED
(Mudgundi et al., 2018)
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Lipid panels
o ↑ trend to perform lipid screenings for children ages 9-12
o Promotes early identification/intervention
o Recommended every 4-6 years for adults unless abnormal identified
o FH characteristic lipid profile = ↑ total & LDL, low-normal HDL, normal triglycerides (Henneman et al., 2015)
TREATMENTS
Heterozygotes: combination of
o Diet low in saturated fat: ↓ cholesterol recirculation from gut = ↑ LDL receptor production from liver = ↓ circulatory cholesterol
o Statins: inhibit HMG-CoA = ↓ cholesterol synthesis = ↑ LDL receptor production from liver = ↓ circulatory cholesterol
o Exercise/weight management
(Jorde, 2019)
Homozygotes: do not respond to above treatments due to nearly complete lack of LDL receptors
o Liver transplant: provides hepatocytes with functioning LDL receptors
o Plasma exchange every 1-2 weeks – difficult
o Somatic gene therapy – in testing phase
(Jorde, 2019)
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COMMON FINDINGS
Xanthomas - cholesterol deposits
Corneal arcus - cholesterol deposits in cornea
o Stroke/TIAs – occlusion in brain
o Rigid vessels can also form aneurysm and rupture/hemorrhage
o Occlusion in heart = myocardial infarction/angina, often presents with chest pain
o Elevated cholesterol - LDL-C >190mg/dL
(Linda, 2017)
RISK/CAUSATIVE FACTORS
o Overweight/obesity
o Cigarette smoking
o Hypertension
o Elevated cholesterol level - FH
o Positive family history - affected first-degree relatives
o Multiple affected relatives
o Affected relatives are female
o Relative is affected before 55 years old
(Nikola, 2019)
o 75% of men with FH develop CHD, 50% with fatal MI before age 60
o 45% women with FH develop CHD, 15% fatal MI by age 60
(Jorde, 2019)
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