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Genética II > Hipercolesterolemia Familiar > Flashcards

Hipercolesterolemia Familiar Flashcards

1
Q

Transmissão

A

Autossómica dominante

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2
Q

Mutações

A

LDLR( cromossoma 19)- 60-80%
APOB (cromossoma 2)
PCSK9 (cromossoma 1)
LDLRAP1 (cromossoma 1)

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3
Q

Manifestações gerais

A

Hipercolesterolémia
Aterosclerose (risco aumentado de doença cardiovascular)
Xantomas
Arcus corneae

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4
Q

HeFH

A

Hipercolesterolémia Familiar Heterozigótica
Surge na idade adulta
Colesterol> 300 mg/dL

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5
Q

HoFH

A

Hipercolesterolémia Homozigótica
Surge a infância
Colesterol 600-1000 mg/dL

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6
Q

Prevalência

A

HeFH- 1:220/250

HeFH- 1:160.000/250.000

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7
Q

Tratamento

A

LOL isto não é fármaco

nem IDE

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Genética II (12 decks)

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