Familial Hypercholesterolemia private test? How to find?

[oberst]

Hello,

My partner has FH, along with his brother who has unfortunately just died suddenly due to his heart (he was 36).

We are now needing our daughter to be tested due to the 50% chance that she has jt also.

My partners consultant (NHS) has put her forward for a blood test for September at the genetics paed department but she has private healthcare and I am wondering how I'd find a consultant who could do this instead?

I haven't used her private healthcare so I am a little unsure how to find a consultant for such a test.

Thank you!

I’m not sure if many geneticists or paediatricians do private work but as you’ve already been referred the best bet might be phoning every few days to try to get a cancellation.

Hello, my DH and two DC have FH. The DC were tested by oral swab not bloods. In my experience treatment wouldn’t start before the age of 8 (and in my eldest he was 12 due to age at diagnosis) so if they are young I wouldn’t rush as it won’t make a difference to treatment starting. As far as I know there is only one centre in the UK that does all the screening for FH so doubt it could be accessed privately?

I can understand that you would rather know but even with our family history the endocrinologist wasn’t concerned to test our youngest till they were 3 despite their siblings already having a diagnosis.

Hello, thanks for getting back to me.

I'm in Southampton, and my daughter is 2.5; she's already been given an appointment with the NHS for September. It's with the Paediatric Genetics Department here.

My partners brother has just died a month ago at 36 elated to FH.

My partners and his brothers consultant said they tested at 2, and if there's family history of young deaths or if the child has extremely high LDL then they'd look at starting medication earlier than the usual age. But if it comes back okay, they'd retest every two years.

She has private healthcare so I was just curious if this was something we could get done privately; because if she does have it then at least she's covered etc.

We spoke to a paed cardiologist at Spire and he would like to see her, in May, but I haven't cancelled our NHS app in Sept just in case.

Sorry to hear about your BIL, my DH has also been through the same with his DB.

From what we were told all the tests go to one lab but I have no idea if they take private referrals, could you call and ask?

We have had several young deaths in our family prior to diagnosis. One of my DC started on meds at 8, no issues. The other one has had a much harder time and was taken of meds several times as the risks from the side effects he had outweighed the benefits. He's been back on them for a few years now but his cholesterol is very high at the minute and they are trying to get it under control, possibly due to the massive change in his height and the crossover of being treated with a paediatric dose despite being a 6 ft young adult.

It’s a horrible place to be in, there is more information out there now than there was when we started on our journey, the BHF nurses are helpful too and they have a helpline.

Hello,

Sorry for the late reply.

My youngest has her first appointment this Friday with the consultant (I think he runs the inherited metabolic disease clinic).

My partners other two children are having swabs sent in the post due to them not living locally.

Do you know if or what they'd do at my daughter's appointment on Friday? Desperate to find out if she has FH or not. They know my partner has it obviously, so I am hoping they will test her then and there.

Just if anyone else comes on here at a later date; my daughter was tested today. They are checking her cholesterol levels and then sent bloods off to see if she has the gene.

The doctor was amazing, said he'd call over the weekend with her cholesterol results as if they are high, it most likely indicates she has FH.