Dyslipidaemias (Chemical Pathology) Flashcards by Rachel Glass | Brainscape

Q

Familial hypercholesterolaemia
Causes
Genes
Symptoms

A

LDL receptor gene mutations
Familial defective apoB100
PCSK9 activating mutation

Homozygous
Heterozygous

Tendon xanthomas, xanthelasma and arcus juvenilis

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Q

Familial combined hyperlipidaemia

A

Autosomal dominant

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Q

Familial hypertriglyceridemia
Causes
Genes

A

APOA5 gene mutations

Autosomal dominant

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Q

Familial hyperchylomicronaemia

Causes

A

Lpl deficiency

ApoC2 deficiency

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Q

Familial dysbetalipoproteinaemia
Genes
Causes

A

Autosomal recessive

ApoE2 polymorphism

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