Genetic testing

[Golendoodle]

Had anyone had to get genetic testing to see if their fatty liver is a genetic factor instead of diet? The doctor is also sending me for another ultrasound instead of fibroscan because I have a loop recorder. Any advice would be greatly appreciated.

[MINTVCX]

Interesting I have never heard of such genetic testing regarding fatty liver. Do you know the disease? Or the name of gene that you are testing?

[Golendoodle in reply to MINTVCX]

alpha one I have a family history of cirrhosis and my brother died at 49 and his daughter just passed away at 33 and a cousin passed away at 29 . Several of us have fatty livers so when I meet with the liver specialist she Was concerned because so many of us have it. She ordered all kinds of blood work . She has ordered hepatic liver panel and cbc and anti mitochondrial and edif .

[nash2 Partner]

There are several genetic liver diseases that they can test for and it is part of a workup if the doc is unclear about what is happening with you. There are also racial differences that some docs might consider testing so the testing is not routine but not uncommon either.

[MINTVCX in reply to nash2]

Yes I know about some genetic diseases that can affect your liver. However I meant about specific one that is responsible for NALFD.

I think it is still being sought.

ncbi.nlm.nih.gov/pmc/articl...

[Golendoodle in reply to MINTVCX]

My aunt went to the doctor today and he told her there was a blood test that can tell if your liver disease will progress what it is I don’t know. The doctor I saw yesterday never mentioned it to me.

[nash2 Partner in reply to Golendoodle]

I don't know what test that would be. Depending on the situation and the mechanism of disease there are a lot of tests that can be done but I don't believe there is a general test that predicts progression. If there is I hope someone will fill us in.

[nash2 Partner in reply to MINTVCX]

You are correct. The data is clear that there is a genetic component but it is quite complex and still a subject of considerable debate. There are several pathways involved and the relationships are pretty complicated and involve the entire gut and digestive system.

[Golendoodle in reply to nash2]

I’m praying this fatty liver and that’s all and can be reversed! It’s nerve racking waiting on all these test to come back.

[nash2 Partner in reply to Golendoodle]

Fatty liver which hasn't progressed to NASH is generally considered to be reversible. Not easily necessarily but lots of people have been successful.

[Golendoodle in reply to nash2]

I’ve had a fatty liver since 2013 but wasn’t told . I found out yesterday when she went back through my medical records. When I went to Cleveland Clinic for a lung evaluation they discovered the liver was enlarged and fatty and then I had to have a ultrasound. Now I’m at OSU getting this work up . I’m scheduled for a special ultrasound on Monday.

[tgk62 in reply to Golendoodle]

Have you been tested for Alpha 1 Antitrypsin Deficiency? It's a simple blood test.

[Golendoodle in reply to tgk62]

I was just tested and my results fall in the normal category.

[TNWONDER]

Yes! I would encourage EVERYONE with a fatty liver or any form of liver disease to have their ferritin levels and saturation levels checked. Thankfully my doc is really a belts and suspenders gal and after my ultrasound showed fatty liver she investigated further and my ferritin was at 660! (Normal is 50-300). So we then did genetic testing and i was shocked to learn that I'm a compound heterozygote (1 C282y gene / 1 H63D gene) for hemochromatosis!! I immediately had to go through a series of phlebotomy treatments (ie blood donation) to lower the iron levels in my blood. Now i have it under control and just need around 2-3 phlebotomies per year but if i never knew i had this, it is likely i would have developed severe liver disease and maybe even cirrhosis over time.

[Golendoodle in reply to TNWONDER]

My doctors dropped the ball when I did fine out I had fatty liver the only thing he said to me was watch your diet.

[nash2 Partner]

Management of liver disease is very spotty. We are doing a project through the Fatty Liver Foundation with Pfizer to create an education module for primary care docs to help teach them how to look for and manage liver disease. Most importantly when to refer a person to a specialist. The 500,000 primary care docs get almost no training in liver in medical school.

[Golendoodle in reply to nash2]

I’m really glad your doing this because your right doctors seem to know very little . I had to ask to be be referred to a specialist and only after I did all of her required testing would she schedule me an appointment and I had to wait over two months to see her only to get no more information than I already had and now further testing.

[Golendoodle in reply to Golendoodle]

The doctor also wanted me to have a fiber scan but since I have a loop recorder I’m not eligible for that test so hoping this new ultrasound will be just as good.

[Sawsee24]

Yes! I have tested an I’m a Alpha-1 carrier, so is my daughter. You can get free confidential testing here:

alpha1.org/newly-diagnosed/...

[Golendoodle in reply to Sawsee24]

So does this mean I’m a carrier because it was 130?

[Sawsee24]

No. Only way to know is to get tested for the gene