Hi @kariulrich thank you for sharing your experience! That is very helpful. I have no idea what to expect from my appointment but I really do hope they do the whole genome sequencing. That would be very interesting and if my genetic makeup can help others, that would make all of this worth it :). I work in biomarker research so as a scientist I would be equally as fascinated to see the results.

I've been evaluated for Marfan twice. First by a cardiologist in 2014 who said it was possible was not conclusive and a rheumatologist in 2017 who also said the same thing you did - that I have characteristics of several connective tissue disorders but not all the symptoms of one in particular, so he also was leaning towards Marfans. And yes, spontaneous pneumos are more prevalent in people with Marfan Syndrome so that's the most likely cause. However, it could also be a mutation of a gene that is not known yet or well understood, which would be frustrating but maybe we'll all learn something new 🙂

I have been diagnosed with MALS, however it has proved to be a very controversial diagnosis. If you are a member of MALS Pals on FB, my story will sound familiar. I went to Cleveland Clinic in 2016 specifically to be evaluated for MALS after years of running-induced stabbing pain under my right rib that no doctor or PT could figure out. I was diagnosed with MALS via CTA and a diagnostic celiac plexus block, even though my arterial velocities were just barely above normal (207). My symptoms were/are atypical as I don't have pain with eating; my pain was and still is exercised-induced. There have been a few papers published on MALS in athletes that suggest that pain with exercise is the primary symptom in athletes (Brody et al 2017, Brody et al 2016, Davies et al 2017), but most MALS experts still believe that postprandial pain needs to be present to conclusively diagnose MALS. Dr. Park did think that surgery would work but I opted against it at the time since the success rates are not that great and some patients end up with GI issues post-op that weren't present pre-op and I wasn't willing to go through surgery at that time unless my symptoms progressed. When I developed pain in May 2017 that radiated from my back around my ribs and into my abdomen/chest, I thought my MALS was progressing so I reached out to a local vascular specialist to discuss my options (Dr. Park is no longer at Cleveland Clinic so I had to find someone else). The vascular specialist I saw in Skokie agreed with the diagnosis and wanted me to have a nerve ablation first before surgery. The interventional radiologist who performs the ablations disagreed with the diagnosis, reviewed my case with the medical board and they would not agree to the nerve ablation without an arteriogram to confirm MALS. He was correct in questioning the diagnosis and during the arteriogram, it was found that I do NOT have a celiac artery. Typically the celiac trunk branches into 3 arteries: the splenic (going to the spleen), left gastric (going to the stomach) and common hepatic (going to the liver). With no celiac artery, my arteriogram showed that my splenic artery comes right off my aorta, my left gastric artery comes right off my aorta and my common hepatic artery comes off my superior mesenteric artery. It's the rarest form of vasculature but with no celiac artery, I "technically" don't have MALS, however, I do have a compression on my splenic artery which is what both Dr. Park and the other vascular specialist saw on my CTA's and assumed was my celiac artery. Sorry that was lengthy! But it's been quite the diagnostic journey.

After my right lung collapsed and the surgeon went in to repair it, she did say that the location of the bleb (back of the middle lobe) would absolutely cause the radiating back/rib pain I've experienced and I'm waiting patiently to see if perhaps it was the lung bleb all along causing the pain under my rib that I've had for years. It's entirely possible that the compression on my splenic artery is causing no symptoms at all, which is why my case is so difficult. I just started running again last week so I don't know yet if that pain under the right rib still exists or will be gone now that the lung is fixed. While my primary goal of coming to Mayo is to find out if I have a connective tissue disorder, it would be interesting to pick their brains about the splenic artery compression since there is absolutely nothing in the published literature about it.

Was your MALS surgery successful? How were you diagnosed? And how did they conclude you had EDS without the gene? Or do you have hEDS?

Thanks so much! Sharing experiences is highly valuable and I appreciate it!

Katie

Katie, You might be interested in following these MALS-related discussions and EDS-related discussions that Kari mentors in the Digestive Health group:
* Post-MALS surgery https://connect.mayoclinic.org/discussion/post-mals-surgery/
* Median Arcuate Ligament Syndrome (MALS) https://connect.mayoclinic.org/discussion/median-arcuate-ligament-syndrome-mals/
* Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/

Katie, I am very familiar with MalPals! I do not get over there as much as I would like to. They have a fantastic person running it, I am sure you know Robin. Her and I have been through the same types of MALS surgeries around the same time. So interesting about your spenic artery, with my first MALS surgery they checked the surrounding arteries intraoperatively, and found my hepato-spenic artery also stenosed and opted to do an patch angioplasty on that artery after bypassing my celiac. I believe my fibromuscular dysplasia (FMD) contributed to that and having to repeat the MALS surgery. I do continue to have symptoms after the second surgery. I also have exercise induced pain along with postprandial pain. I was diagnosed with my FMD while training for a half-marathon. Running and my body do not get along, so I walk when I feel up to it. I do miss the runner's high I would get at mile 10! LOL I was diagnosed wit EDS at the National Institute of Health by a researcher who was studying connective tissue disorders that included FMD, EDS, Marfans, Sticklers, they all overlap in some ways. May confirmed it, yes it is hypermobile so no testing, just based on clinical manifestations. I have a variant of the TNXB gene, however the genetics doctors at Mayo did not know the significance of that at the time. They consulted some of the top EDS docs in genetics and did not have any answer for me. (This was many years ago, I believe they have found out more about this gene now). It does not change how I am treated for symptoms, It is just validating to know. Especially for the sake of my children! I am so happy you found Mayo Connect and I look forward to following your journey. My vascular surgeon at Mayo Rochester is Gustavo Oderich, he is familiar with vascular disease with underlying connective tissue disease, in case they want to address your Splenic Mals.