familial hypercholesterolaemia - my family history

Familial Hypercholesterolaemia

- My Family History

By Kenneth Henthorn

as told to Dermot Neely

Family History - KH

KH

TC 11.0(mmol/L)

Index Case

55 y

Family History - KH

KH

TC 11.0(mmol/L)

Index Case

55 y

First degree relatives 1 in 2 chanceSecond degree relatives 1 in 4 chance

Family History - parents

II

I

KH

TC 11.0(mmol/L)

Index Case

K B

55 y

First degree relatives 1 in 2 chanceSecond degree relatives 1 in 4 chance

†76y †75y

Family History - parents

II

I

KH

TC 11.0(mmol/L)MI age 36

Index Case

K B

55 y

First degree relatives 1 in 2 chanceSecond degree relatives 1 in 4 chance

†76y †75y

Family History - parents

II

I

KH

TC 11.0(mmol/L)MI age 36

Index Case

K B

55 y

?chol

First degree relatives 1 in 2 chance

†76y †75y

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

Index Case

K B

E

55 y

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

First degree relatives 1 in 2 chance

†76y †75y

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

Index Case

K B

E

55 y

TC >13(mmol/L)

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

First degree relatives 1 in 2 chance

†76y †75y

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

Index Case

K B

E

55 y

TC >13(mmol/L)

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

First degree relatives 1 in 2 chance

†76y †75y

?chol

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

Index Case

K B

E

55 y

TC >13(mmol/L)

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

First degree relatives 1 in 2 chance

†76y †75y

TC 9.7(mmol/L)

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

?chol

Index Case

K B

E

55 y

TC >13(mmol/L)

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

First degree relatives 1 in 2 chance

†76y †75y

TC 9.7(mmol/L)

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

?chol

Index Case

K B

E

55 y

TC >13(mmol/L)

TC 9.7(mmol/L)

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

First degree relatives 1 in 2 chance

†76y †75y

Family History - siblings

II

I

KH

TC 11.0(mmol/L)MI age 36

?chol

Index Case

K B

E

55 y

TC >13(mmol/L)

TC 9.7(mmol/L)

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

†76y †75y

First degree relatives 1 in 2 chanceSecond degree relatives 1 in 4 chance

II

I

KH

?chol

Index Case

K B

E

TC >13(mmol/L)

TC 9.7(mmol/L)

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

III

Family History – the children

TC 13 TC 11.3

28 y 25 y 22 y 13 y28 y 25 yTC 4.1TC 4.6

J JS H

†76y †75y

Second degree relatives 1 in 4 chance

II

I

KH

?chol

Index Case

K B

E

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

III

Family History – second degree

TC 13 TC 11.3

28 y 25 y 22 y 13 yTC >12

30 yTC 428 y

TC 4.1TC 4.6

J JSMD

H

†76y †75y

II

I

KH

?chol

Index Case

K B

E

?chol

K JR

54 y 52 y 50 y

?chol?chol

P J

†4y †36 y 55 y

III

Family History – second degree

TC 13 TC 11.3

28 y 25 y 22 y 13 yTC >12

30 yTC 428 y

TC 4.1TC 4.6

J JSMD

H G

TC 429 y

†76y †75y