FH has many faces and many stories. I have homozygous FH (HoFH) which means that I inherited it from both my parents. As a matter of fact, both genes that came from them are the same exact gene, although my parents are not related, in any way, by blood.
My grandparents all came from huge families
(think 10+ children). My parents have so many cousins they have not met all of
them. This also means I have a lot of people on both sides of my family who have
FH. And every one of them has a different story. A different story of their
diagnosis, of their treatment, or lack thereof, of what the disease ultimately
leads to. There are no two stories alike, and there are no two people that
chose the same path in managing this disease (or not).
I see a lot of people with FH who are
asking good questions about what to do when they are diagnosed; people who
display all sorts of emotions, from sheer panic and depression to a nonchalance
that I envy, in some ways, although I know that is not the proper course for a
healthy and good-quality life when you have FH.
FH has been in my family’s life for
generations – no one is shocked when they are diagnosed anymore. We’re all
pretty much aware of what it is and what it can do to us: many of our aunts and
uncles have suffered heart attacks, strokes, angioplasties, complications from diabetes
and fat liver disease. Although we know all these things all too well, not all
of us choose to receive treatment. More in the notes I drew below about my
immediate family and their individual, unique stories.
My grandfather
Current age:
deceased at age 65
Diagnosis age: as a young adult, after several of his older relatives and
brothers and sisters were formally diagnosed with FH. At that time, they just
spoke of “familial hypercholesterolemia” and did not dissociate between the
HeFH and HoFH types. We believe he had heterozygous FH (HeFH).
Cholesterol levels: no one remembers for sure, but my parents think the total
cholesterol stayed between 300-400 mg/dl.
Treatment: reduced
fat diet; no drug treatment was available for cholesterol in Romania before 1990
when he died.
Complications: first stroke at 48, major stroke at 50 which left him paralyzed in
one half of his body. He died at 65 after a massive stroke after having lived
bed-ridden since he was 50 with the effects of the stroke and complications
from diabetes. He also had coronary artery disease and high blood pressure.
My aunt
Current age:
71
Diagnosis age: as a young adult. At that time, they just spoke of “familial
hypercholesterolemia” and did not dissociate between the HeFH and HoFH types.
We believe she has HeFH.
Cholesterol levels: currently, the total cholesterol is between 200-300 mg/dl.
Treatment: no
special diet, no treatment, by choice.
Complications: angioplasty (stent placement) in her thigh and upper-leg arteries
in her 50’s; massive small-brain stroke at 67; high blood pressure, a-fibrillation,
tachycardia.
My father
Current age:
69
Diagnosis age: in childhood, due to the fact that his father already knew about
his diagnosis, my father was a sickly kid, and his mother (my grandmother) was
a registered nurse who tested him for everything. At that time, they just spoke
of “familial hypercholesterolemia” and did not dissociate between the HeFH and
HoFH types. We believe he has HeFH.
Cholesterol levels: currently, his total cholesterol is 326 mg/dl.
Treatment: no
special diet, no treatment, by choice.
Complications: several mini-strokes starting in his 40’s. High blood pressure in
his 40’s. Diagnosed with coronary artery disease, peripheral atherosclerosis, peripheral
neuropathy in his 50’s. His condition is further complicated by diabetes.
My mother
Current age:
68
Diagnosis age: 63. My mom’s cholesterol levels were in the upper 200’s all the
way into her 50’s. She maintained that her cholesterol is not genetic, like my
dad’s and it’s caused simply by bad eating habits. When she was 63, I had a
genetic test that confirmed that I had Homozygous FH (HoFH). This was the clear
indication that she, too, must also have FH. She suspects she inherited it from
her father who died when she was 7. She had no further relationships with his
surviving family, so the knowledge on her side of the family is very limited.
Cholesterol levels: currently, her total cholesterol is 313 mg/dl.
Treatment:
no special diet, no treatment, by choice.
Complications: aortic valve stenosis, coronary artery disease, stroke at the age
of 67. The cause for the stroke was unclear as she was also undergoing chemo
treatment for lung cancer at the time. The doctor could not determine the cause
of the stroke for sure – whether it was vascular or a complication of the
chemo. She suspected it could be either one.
Myself
Current age:
46
Diagnosis age: 8. My pediatrician felt an enlarged liver when I complained of pain
in my upper abdomen. She sent me to get a complete liver and lipid profile, also
knowing my family’s history of FH at the time. My mother found out the
cholesterol level, as a hospital biochemist. At that time, they just spoke of “familial
hypercholesterolemia” and did not dissociate between the HeFH and HoFH types.
At age 40, following a genetic test, I was diagnosed
with HoFH.
Cholesterol levels: currently, my LDL is 107 mg/dl (the lowest it’s ever been). Before
I started drug therapy at the age of 23, my LDL was 475 mg/dl. My total
cholesterol was 526 mg/dl.
Treatment: no
fat, vegan + fish diet, Lipitor, Zetia, Praluent, Nexletol.
Complications: diagnosed with tachycardia and arrythmia in my early 20’s; coronary
and carotid artery disease at age 30; aortic valve stenosis at age 36.
Open-heart surgery at age 40 to replace the aortic valve, ascending aorta,
repair the aortic arch and repair and bypass four main coronary arteries.
My sister
Current age:
43
Diagnosis age: 38. Although she knew her cholesterol was elevated, my sister did
not get officially diagnosed and treated until this age. This was after my
open-heart surgery which rang a bell of alarm for everyone in the family, I
think.
Cholesterol levels: currently, her LDL is 108 mg/dl (total cholesterol is 201 mg/dl).
Treatment: low
fat, white meat and fish diet, intense jogging (she is the runner in our family
as she has been spared heart disease so far), Lipitor.
Complications: no complications so far.
My nephew
Current age:
10
Diagnosis age: 7.
Cholesterol levels: last test showed an LDL of 170 mg/dl.
Treatment: all-inclusive
diet, with less fried foods and lower fat, white meat.
Complications: no complications so far.
Whatever your story may be, what I believe firmly is this: it all starts with awareness: knowledge is power. You may choose not to do anything at all, but at least you know about the train that’ll be coming rather than one day be caught completely by surprise, way too late, when there might not be anything left to do or know anymore.
To honor the FH Awareness Day, these are the faces and stories of my FH family. What are yours? Do you know?!
Happy health, you all!
