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  • PD2112

    Hey everyone. I just found out I'm homozygous FBN1, Do I have MARFANS?

    - 10 years, 3 months ago

    Like   Favorite  1037 views   4 comments    Respond

    • EQ1204  

      can someone help read my report i am sure i have marfans from my father https://livewello.com/snps/share?index=1641069241&id=4939975455670272

      - 3 years, 5 months ago.  

    • PD2112  

      Thanks for your replies! I do have some good reasons to believe MARFANS may be an issue but nothing too clear cut. EDS doesn't seem to fit. Thanks again :)

      - 10 years, 3 months ago.  

    • UX6175  

      I don't think that most of the SNPs involved in a Marfan diagnosis are covered by the test, and I know the diagnosis can be a little complicated, so probably not.
      BUT, it would be good to investigate. Marfan.org has some great screening information.
      I know there is Marfan in my family, but I don't think I have enough of the risk alleles to qualify. I definitely do qualify with EDS, type(s) to be determined via formal genetic testing. (Usually, folks just have one type, yes, but I have a couple on each side of family and have at least some risk alleles and physical signs for several variants. Joy.)
      Anyway, check out the site, and if you get a high score on the screening thing, take the info to your doc and get a referral for eval. Good luck!

      - 10 years, 3 months ago.  

    • KF3936  

      Do you have reason to believe you do outside of this? It's usually a pretty straight forward clinical diagnosis, so you'd probably know (google the clinical stuff as a starting point). That said, I have Ehlers-Danlos Syndrome, which is a connective tissue disorder due to faulty collagen that people sometimes confuse with Marfans (although it's a different mechanism). Many (but not most) EDSers have marfanoid features, but we don't have Marfans. I don't have the Marfans facial features, but I do have extremely long appendages and digits like Marfans. Again, though "just" Ehlers-Danlos. If you're hypermobile, I'd look into EDS first.

      - 10 years, 3 months ago.