Genetic clinic to test for FH

[Clericus]

I have an appointment to confirm if I have FH which has been diagnosed but not clinically proven. Has anyone else been through the process and any pointers

[BryanDobson]

Agree with Traci. Apart from a blood test (and you are probably well used to those by now) its a painless but interesting process. Potentially the most difficult part is convincing family members to get tested to...

[Clericus]

Mid April appointment. The clinic have asked for family details, contact no's etc. with six siblings and three children I have my homework!

[sandybrown in reply to Clericus]

What are your cholesterol now if I may ask.?

[Clericus in reply to sandybrown]

Varies upwards from 6.5 - 9.6.

Did a drug trial in 2013/14 that got the reading down to 4.6

Because cholesterol problems and treatment has been relatively recent history of my parents is not known.

[deepblue]

I was genetically tested about 3 years ago for FH but they couldnt find the "normal" gene and said they thought I have a condition very similiar to FH or that I had FH but with a yet undiscovered gene. Personally I dont think I have it as my cholesterol although very high (8.9) was only 6.5 in my thirties and apparently FH is high cholesterol from birth and has to be over 7.5. I have an uncle who has been diagnosed with Familial Hyperlipidaemia and I think I have the same. This is a more benign condition that manifests as either high LDL or Triglycerides. There is also no early heart disease in my father's side of the family, despite very high cholesterol (some have 10.0 and 14.0!)

[Aliwally]

Hi Clericus,

Do you live in England? If so, you are fortunate if that is the right word to be offered a genetic test for FH, as funds are limited and I had an awful time fighting to get one but I won't bore you with the details!!

Like Deepblue above, they could not detect the gene and my history is almost identical , high levels now but not so in the past. I have taken statins, fibrates and cholestagel but nothing for the past 6 months or so. I have decided to take my chances without medication and just live as healthy a lifestyle as possible.

However, if they had detected the FH gene, I think I would have a different attitude and go for some medication, but not statins as they caused me endless side effects plus I have a family history of motor neurone disease (my mum).

Hope this helps.