Lipoprotein Lipase Deficiency (LPLD) Community

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Lipoprotein TESTING

Hi, I was wondering if anyone has had some sort of test done in regards to this actually illness. I had a test done around 6/7 months ago but they still haven't received the results. It takes a long time to get the results apparently..

jill
moderator

Hi, which hospital organised the test for you?

I think they do take a while, I know of someone else having the test and it taking months, which seems far too slow. Not sure why that amount of time is needed.

Do you have an appointment booked to see the specialist to get your results? It might be worth chasing them up.

Jillx

It was at the Hallamshire Hospital in Sheffield,

Oh I see, I haven't been to see my specialist yet but have spoken to them over the phone and they haven't received the results as of yet.

I'll just have to wait a little longer I suppose.

jill
moderator

Frustrating!

Out if interest who is your specialist?

sandyketronvowell
moderator

Since I was diagnosed as a baby, I'm not aware of what testing actually is done for a proper diagnosis. I know it was probably a more complicated genetic testing than now, surely... because that was back in 1961.

Can't believe it really takes this long to get an official diagnosis.
Is that true Jill?

Perhaps its a money issue, more than a diagnostic issue...

jill
moderator

It does seem a long time but I'm aware of someone else who has had a test and is still awaiting the results months later. I'm not sure it's a finance issue if the test has been done.

I'll check with a consijltant who may be able to shed light

X

It's Dr.Delaney from the Northern General Hospital, Sheffield.

I'll keep you updated when and if the results arrive.

Hi Dean,

Today I received the Gene Profiling test results for my daughter Julia. We live in Argentina and had to send the blood sample to Spain. It must have taken overall 2 months to get the results and a bit more than us$1000.

We hesitation at the moment of deciding which genes to study, with different doctors and labs recommending different types of genes. We finally went for the APOC2, GPIHBP1,
LPL genes, which supposedly were the most probable ones because of Julia's trygliceride levels (max she had 1,000, and dieting we can keep her under 350).

The results indicate that these three genes are fine, with no signs of mutation. So I guess it is good news in one sense, but back to ground zero once again. The lab suggested to conduct further testing on other genes: APOA5, APOB, GCKR, GPD1, LMF1

Now we are wondering what to do and if Julia actually has LPLD. We still need to discuss the results with Julia's doctor

If someone can give us directions would be appreciated

jill
moderator

Hi Matias,

That must be very frustrating (and expensive) for you.

As far as I'm aware the genes which have been recognised to cause LPLD and the related conditions that comprise familial Chylomicronemia Syndrome are APO CII, APO A5, GP1HB1, LMF1 genes (1) (2). It seems that of the suggestions the two that would tally are APOA5 and LMF1 (1) and (2). I don't know anything about what the other genes cause (APOBM GCKR and GPD1). It might be worth asking the lab about what they know about them before paying for more expensive tests.

But can I ask what value there will be in having a genetic diagnosis for Julia at this time?

My thinking behind this question is that the possible treatments that are out there for LPLD/FCS (Glybera, and maybe volanesorsen in the future) have not been trialed on children. I can't remember how old Julia is but I think that any child who might be offered volanesorsen (should the trail results be positive) would need to be at least 12, if not an adult (I have to admit to not being 100% positive that it would even be given to a 12-year-old). Glybera - which has been authorised - is only for adults.

It might be worth waiting until there is reason to do more testing as knowledge in this area is increasing so fast that things may be clearer at that point in the future.

I say this having not been genetically tested for most of my life, and now with a genetic diagnosis it hasn't changed anything in terms of how I live my daily life or what I eat.

I also recognise that it can feel very important to have a definitive diagnosis so I'm by no means saying don't test if it is something that you feel you need to do.

I hope this has been helpful!

With best wishes

Jill

Hi, I did the test for the following Genes
LPL, APOA5, APOAC2, LMF1 and GPI-HBP1 and the defect was only in APOAC2 gene. According to what I understood from my doctor, my body produce the LP lipase but it is not active and the APOAC2 is in charge of activating the lipase. Note: I did the test in london end of 2015 and was diagnosed in 1984.
My doctor prescribed Lopid 600 for me but i sure it has zerof effect so i stopped since there was no change in my TGL.

jill
moderator

Hi Rayaad, do you manage to keep well and how much fat do you eat each day? I'm curious to understand the differing levels of ability to metabolise fat we all seem to show,which I can't help but think must be down to which genes are causing the problem. When you were diagnosed in 1984 what were you told you had and which hospital were you seen at? (Sorry for all the questions!)

Hi Jill,
I am originally from Sudan and my father was doing his residency at London hospital which is the place where i was diagnosed with hyberlipidemia tybe 1 when i was 3 years old. We moved back to Sudan after one year and i was on strict diet of 15 g of fat per day. As for now, i am not that much responsible in keeping strict diet due to the nature of my work where i travel almost every week however when I am home i eat a max of 20 g per day. I did a test 2 years where it showed that my body produces the lipase and i always thought that i had a bad LPL gene so this is why i went to London by end of 2015 to do the genatic testing. I went back to my docror in Saudi Arabia (where i am living now) and showed him the result and the defect in APoac2 and he prescribed for me Lopid 600 as i mentioned earlier. I tried to google and researche if Lolid works with my exact case (APoac2 defect) with no luck. On anonther note, i can not get my TGL these days below 500 no matter how hard i tried to stick to my diet.