I have my answer! FINALLY
Hi everyone!
I finally have my diagnosis. Thanks to member CrustyG for pointing me in the right direction and UCLA for believing in me. I now have have my WHY!
In late December 2022 I had an invasive Cardiopulmonary Exercise Test. It revealed cardiac pre-load failure but they did not know why. After doing some research I found an obstructive heart failure preserved ejection fraction phenotype caused by NAFLD. I presented this to UCLA and they agreed with me. So yesterday I had another heart Cath and exercise test, but this time they measured pressures across the hepatic veins. It showed subclinical portal hypertension. This paired with my other symptoms showed that my hypothesis was correct. There is no cure, it's rare, they don't know why but I FINALLY have my answer. Preload failure due to NAFLD which in turn presents as an obstructive HFpEF phenotype also caused by NAFLD.
This is obviously not the best news, but it goes to show what a little self-educating and self-advocating can do. I'm so sick of all these docs with their egos who think just because I am not a doctor, how could I possibly know. Well guess what, this guy taught everyone involved at UCLA today! I also plan to take all the data back to every doc who turned me away and give them a piece of my mind. Yes I'm being petty, but you all know what we've gone through. These docs need to start taking us more seriously. I can't believe it took almost 4 years to get here.
So what's the plan moving forward you may ask? Well that's still up for debate. Weight loss, dietary changes and exercise are on the forefront for sure. I'm just relieved that I proved to all these top docs that this really was happening to me. It wasn't in my head. The doctor told me yesterday that I taught him something and I've earned an MD title. He also said now he suspects many more of his patients to have similar. That made me happy because if this can help others, then my work is done. Ok that's my rant for today. Hope everyone is doing well.
Alejandro
Link again for reference. Scroll down to where it says HEART-LIVER PRELOAD RESERVE IMPAIRMENT
https://www.ahajournals.org/doi/10.1161/CIRCHEARTFAILURE.120.007308
4 Comments
Finally a diagnosis
by Gemita - 2023-06-29 20:46:39
NAFLD (Non alcoholic fatty liver disease)
Sub clinical portal hypertension
Obstructive heart failure with preserved ejection fraction
Alejandro, I can sense your relief and hopefully now that you have some answers, you can move forward and take better care of yourself in the knowledge that you know what you are dealing with. It will make such a difference. A heavy burden has been lifted but it was worth the battle, wasn't it to get a confirmed diagnosis?
I am glad crustyg gave you that all important lead. That is all it sometimes takes and what a difference it has made. You sound positive about the future already.
I will have a read of the link you provided over the weekend and send you a private message with all my thoughts and my news too dear Alejandro. It is a complex diagnosis to have been given but at least the search is finally over. I am sorry if we all gave you lots of questionable diagnoses over the years, but we were only trying to help
Pleased for you
by crustyg - 2023-06-30 03:40:26
It's very satisfying to have a cause for our health problems, and as you say, there is something that you can do yourself which is good (even if not easy).
Please go easy on your medical advisers who you feel have let you down in the past - they are only human and not all of them are in the top 10% of the profession: I know I never was. In any case, I think you've already made a positive difference with the doc who told you that you'd earned an MD in his eyes. I think it's highly likely that you will be the subject of a Grand Rounds case presentation within the next few months (assuming that this old fashioned teaching method is still used). The real benefit of presenting rare diseases is to make everyone aware that sometimes hoof-beats really do mean zebras and not horses.
Best wishes.
You know you're wired when...
Friends call you the bionic woman.
Member Quotes
The experience of having a couple of lengths of wire fed into your heart muscle and an electronic 'box' tucked under the skin is not an insignificant event, but you will survive.
good work
by new to pace.... - 2023-06-29 20:24:46
Glad you hear you have solved what is going on with yourself, Doc. You have taught me and i am sure the others. That we really do have to advocate for ourselves.
New to pace