Author Topic: Newly diagnosed - S50N?  (Read 317 times)


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  • Posts: 2
  • Reason for joining: I have hereditary ATTR-CM and S50N
  • Diagnosed: 2021
Newly diagnosed - S50N?
« on: October 19, 2021, 03:58:54 pm »
Hey guys, I’m Ricky and new to the group, thanks for accepting :)

I was recently diagnosed with ATTR-CM amyloidosis affecting the heart as well as another rarer strain I’m not too familiar with S50N.

I was wondering whether anyone on here new anything about S50N? I can’t seem to find anything online about it.


Do you happen to know what the average time frame from diagnosis to consultant appointment is? I was diagnosed on the 28th July and have yet to receive any further information.

Thank you in advance :)

Miriam Vered

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Re: Newly diagnosed - S50N?
« Reply #1 on: October 20, 2021, 05:09:44 pm »
Hi Ricky,
Welcome to the forum. I'm sorry to hear about your illness. S50N denotes a rare mutation in the TTR gene. Hereditary ATTR amyloidosis can be triggered by more than 100 different mutations in the TTR gene, and there is less information available about the rarer mutations.
Do you know if your doctor has referred you to the National Amyloidosis Centre in the Royal Free Hospital, London? If not, you should ask to be referred.