GeneChat

Need help with Fry and Smelcer, Johnson side of family


#1

Hello, I have had some medical problems and the doctors want some history. I do not know how to read some of my reports. I have had blood clots in my legs for some time now even had the veins stripped a few years back to see if it would help. This week I have a long one from halfway of the calf to halfway up the thigh. The docs had never seen this before. How do I know if this is a genetic disorder or disease with my DNA? How do I know which disorder or disease is producing it?


#2

I too have had DVTs… one following a surgery and then, 8 yrs later without clearly defined trigger. Since then, a brother has had a DVT in left leg.

Following my 2nd one, to see what risk factors i might have, I did a lot of review of my genomic info. Using my raw (processed) DNA data file i’d downloaded from Ancestry.com to Livewello, first, and then to Promethease, I was able to look more carefully and developed a list of SNPs associated with risk for DVT.
First, there are a number of genes named F1, F2…F13 (FI…FXIII ) which control the clotting cascade. I have 3 homozygous SNPs in F11 … which while associated also with haemophilia (the reverse problem) are also strongly associated with DVT - for reasons I have not yet deciphered.
I also had 3 heterozygous SNPs in F5, predisposing for thrombophilia (tendency towards blood clots); was not genotyped for the best-known mutation in F5 (factor V Leiden) rs6025, but a lab test for Factor V Leiden activity was negative.

Also, there are other genes associated with DVT. Some are connected to factors that while not directly involved in the coagulation cascade, have influences that are associated with thrombophilia. For example, it is known that elevated serum homocysteine (Hcy) is associated with DVTs, though the association hasn’t been completely explained. (It is known however that it is pro-inflammatory and could lead to vascular inflammation that might be conducive to blood clots.)
Elevated Hcy itself can be the result of folate pathway & other metabolic defects.

One gene for which i have homozygous SNP ( MTRR A664A (rs1802059)) is strongly associated with elevated homocysteine and related conditions. There are several others.

Blood lab showed that I did have elevated serum homocysteine (Hcy). While it is not proven that lowering serum Hcy will protect against DVT, it is definitely worth keeping it in range…especially if there are other potential risk factors.

I suggest getting serum Hcy tested (if it hasn’t already been), and if it’s above ref. range, it can be lowered by: a) supplementation with: i. folate, ii. B6(as P-5-P), iii. B-12 (I use hyroxycobalamin) and iv. TMG (TriMethylGlycine, or Betaine); b) reduce coffee intake ; and likely other steps. I recommend searching for information on this, and consulting with knowledgeable doctor as needed. In any case, I did manage to bring my Hcy level down to “normal” ref. range.

Furthermore, I recommend that if you haven’t already done so, it is worth uploading your processed DNA file to both Livewello.com and Promethease.com . You can use those side by side, because each has its advantages and one can help clarify any ambiguities in the other. The Promethease tool is downloaded (to your pc / laptop) after you upload your data there and it is processed by Promethease. You then run the XML program anytime you want on your pc (in a browser).
It allows you to filter for certain diseases or conditions (like Deep vein thrombosis)… and will display your results for the relevant hits.

In fact, as I get it, I’ve entered all such information in a personal database that I’ve created using Excel spreadsheet; each time I query Livewello (by SNP) or Promethease (by gene or other filters, I enter the information in my db…noting which conditions it may be associated with, entering hyperlinks to research articles, etc.

It’s a lot of work but many people find that with certain diseases, we have to take a lot of responsibility to do our own investigation … and feed our doctors as much relevant information as possible. Most have only at best a passing and general knowledge of the influence of various genes, for example.

Good luck.