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Additional findings_Adult v1.43 FH Zornitza Stark Marked gene: FH as ready
Additional findings_Adult v1.43 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Additional findings_Adult v1.43 FH Zornitza Stark Classified gene: FH as Green List (high evidence)
Additional findings_Adult v1.43 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Additional findings_Adult v1.42 FH Zornitza Stark gene: FH was added
gene: FH was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FH were set to Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Review for gene: FH was set to GREEN
Added comment: STRONG actionability in adults by ClinGen.

Referral to cancer genetics service for surveillance for skin, gynaecological and renal manifestations, notably renal cancers.
Sources: Expert list
Additional findings_Adult v0.149 APOB Zornitza Stark commented on gene: APOB: Well established gene-disease association.

Considered 'strongly actionable' by ClinGen, however, benefit in children is uncertain.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis.

Based on studies of individuals selected based on clinical criteria in the pre-statin era, untreated males are at 50% risk for a fatal or non-fatal coronary event by age 50 years, and women are at 30% risk by 60 years.

Treatable disorder: Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment. Other treatments, as well as lifestyle modification are also available and alter the natural history.

Statin therapy is recommended to be initiated as early as 8-12 years of age.

Relatively common, 1 in 200/500.