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I have unexplained symptoms, any help or input is welcome (1/2)

Hi, I'm Peter, 28 yo and I'm from the Netherlands. I’m here to share my story in the hope of finding someone who could help me in identifying my mysterious illness.

Until about two years ago, I was a healthy person with no physical complaints at all. I was enjoying my life and doing what people normally do: working, spending time with my GF, family and friends, and exercising my hobbies.  

However, early 2017 my life completely turned up side down. After a dinner with friends at a local restaurant, I suddenly started to develop sharp/stabbing pains in my epigastric area (right upper quadrant pain under ribs). In the two weeks that followed, the pain intensified and got accompanied with feeling nauseas, diarrhoea, dizziness, pain in my shoulder blades and feeling full after a few bites. I remember that every time I ate something in those two weeks, even just a little bite of something, the pain would increase severely.

At the end of those two weeks, I passed out (not sure wha happened or how) and my family called the ambulance in panic. Shortly after, I woke up in the ambulance while driving to the hospital and I thought that I was dying, since I was very cold, my hands looked pale and I felt tingling sensations on my lips and fingertips. Luckily that wasn’t the case, and soon I was brought to the ER and hospitalised a few hours later.

That same week doctors started all kinds of examinations, including regular bloodwork, ultrasound, gastroscopy, etc. They could’t find anything until a CT scan revealed severe narrowing of the third part of the duodenum. Wilkie syndrome aka SMA syndrome. I was told that the only effective treatment would be a surgical intervention and since I wanted to understand the effectiveness of the surgery, I Googled the syndrome and found that the condition is mostly diagnosed in people with very low BMI, people with EDS, mainly woman and that one of the major symptoms is vomiting. Since vomiting was not one of my symptoms and I had overweight before the symptoms started instead of underweight, plus I don’t have EDS, I was skeptical of the diagnosis and asked for an second opinion. Although somewhat reluctant, the doctors finally agreed and accepted my wish for a more thorough look at a specialised medical centre. My medical file was sent upfront and I would receive word from the hospital in two weeks after a review of my admission request.

Meanwhile, I got a jejunal feeding tube since I had lost 8KG and couldn’t eat anything without any severe pain. Also, I received antibiotics treatment (pantoprazol/claritromycine/amoxicilline) for an overgrowth of Helicobacter pylori bacteria found in my stomach. The pain decreased somewhat and I thought that the worst part was over. However, two weeks passed and I got news from the hospital: the best doctor in the Netherlands in the field of vascular compressions told me that I didn’t had Wilkie syndrome based on reviewing the CT scan images and declined my admission to the hospital. Around the same time, my symptoms flared up again and now I also started to develop burning pain in my throat and in my chest on both sides, which at that time I believed was the result of the feeding tube running through my oesophagus, causing an some sort of irritation reaction.  

Due to intensifying pain, I ended up in the hospital again a few weeks later and got more examinations done (e.g., MRI small intestine, blood work, ultrasonic endoscopy, etc). The doctors again could’t find the cause and ultimately diagnosed me with irritable bowel syndrome. I was given medications including a lot of pain opioids, my feeding tube was pulled out and I received nutritional supplemental drinks to continue with.

During that hospital stay, my situation went from bad to worse. Now, I also started to develop (to me then) absurd sensations in my abdomen: cold and warm sensations, tingling/pins and needles and horrific pain, which felt like my intestines were being squeezed and tearing. Since the doctors already made their diagnosis of IBS, I received no further examination or treatment and got dismissed from the hospital still in pain.

Back at home, now having both old and new complaints, the pain continued and I remember that at one night the pain got so severe that it radiated to my left foot. After the pain attack, I could’t move my left foot anymore and again went to ER. At the hospital some neurological checks were done and also a blood test on Lyme disease. All the results came back negative, except for some loss of feeling in my left foot. Since it was not considered severe enough, I was dismissed from the hospital and sent home.

Going forward a month, I started to develop even more odd symptoms like burning pain other vague sensations all over, sore throat/barbed wire feeling in throat, red eyes, hair loss/brittle hair, fungus infection toe nails, yellow crusted and peeling lips, stiff limbs, rigid muscles, cracked and white tongue, dry and flaky skin, brittle nails, cracking joints with every move and insomnia. The following months I noticed loss of subcutaneous fat all over, thinning skin, tinnitus, muscle loss and stretchy/elastic skin in neck and face, old looking hands and slow healing wounds. And as months passed by, the list of symptoms would grow considerably. Some symptoms eventually decreased or even disappeared entirely, other would come and go, but most would stay and I realised that my life would never be the same as before…

Fast forward to the current situation. I’m devastated, my body feels like it’s finished. The main symptoms I’ve steadily experienced over the past two years include:
⁃ Progressive muscle loss and muscle weakness all over
⁃ Abdominal pain
⁃ Continuing loss of subcutaneous fat, mainly from torso and above, but gained fat in my abdominal area
⁃ Chronic sore throat (and white patches on tonsils)
⁃ Pain sensations all over (pins and needles, tingling, warm/cold, etc.)

Other symptoms/complaints I still have:
⁃ Slurred speech at end of day, dry and flaky skin, brittle nails and hair, peeling lips after water exposure, when eating or drinking warm/lukewarm I develop large blood blisters in my mouth, the cartilage in my ears and and nose is getting weaker/softer, stretchy skin face/neck, varicose veins in left feet, slow wound healing, dry mouth, fungus toenails, tinnitus, cracked tongue and exercise intolerance. Although I try to be as precise as possible I might have missed a symptom or two.

When the new set of symptoms first started to appear nearly 2 years ago, I first thought that it was the result of the poor state of my body after nearly two months of intensive examinations, hospital stays and poor nutrition. But once I started having normal food intake again, regular exercise, relaxing, etc. I expected that my body should go back to normal after a while. Since that didn’t happen and the list of symptoms was growing every month, I decided to put matters into my own hand and approached specialised doctors and hospitals all over Europe, from Germany to Belgium and even in Tbilisi, Georgia. Also, I continued visiting hospitals in the Netherlands in the hope of finding a cure for my now mysterious illness.
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1081992 tn?1389903637
Hi, Peter. Have you heard the saying that to a hammer, everything looks like a nail? That can happen when seeing a series of specialists, no one tries to tie it all together - they just see their own view.

Would you like to go back and forth here for a bit try to construct an overview? Using a lot of logic, referring to the details but not getting too bogged down in the details.

Let's begin at the beginning, that fateful meal. Either it contained a bad pathogen (like a mystery virus or even a parasite), or else it provoked an odd immune system reaction that cascaded into all your problems.

Was it a fatty meal that provoked a release of bile? Were bile ducts blocked? Was your gallbladder scanned? They would have easily seen stones, but did they look for acalculous cholecystitis (inflamed gallbladder without stones)?

Immune cells can do very mysterious things when they run amok. Some people are genetically predisposed to having overly reactive immune systems.

"Meanwhile, I got a jejunal feeding tube since I had lost 8KG and couldn’t eat anything without any severe pain."
Have you heard of Eosinophilic Esophagitis and other eosinophilic disorders?  When you had the endoscope, did they snip out some biopsy samples and specifically test for eosinophils in your GI tract? Were your supplemental drinks of the type called Elemental Nutrition, sort of pre-digested to avoid triggering a reaction via IgE on eosinophils or mast cells?

Have mast cells ever been discussed by docs with you? You can think of them as 'master' immune cells that orchestrate other immune cells and can stir up severe inflammation and thereby create a huge variety of symptoms.

I can tell you that mast cell disorders often take years to diagnose, and are  made even worse when eosinophils also get involved.

Helpful - 0
Hi Ken, thank you very much for your reaction.

The way you reason is exactly what I expected what doctors do before I became ill. I saw them as medical detectives focused on tracing and curing diseases; I was naive and didn't have any experience with the medical world. Instead, they only look into what they already know or have been learned, just as you describe.

I believe it was a fatty meal, but not sure to be honest. I ate and drank very unhealthy during that period and went out for dinner almost 4 to 5 times a week... so lifestyle definitely played a role, but, I don't know to what extent.

They looked into my gallbladder and indeed didn't find any stones but in my report there is a remark about dubious material in my gallbladder. Not sure what it means.

And yes they took biopsy samples but only to check for Helicobacter Pylori bacteria, so not for checking other pathogen. Also not sure about my supplemental drinks, I think it was pre-digested. I believe it was this one: https://www.nutriciamedischevoeding.nl/Catalogue/Nutrison/Nutrison%20Concentrated#tab-properties

Nope, mast cells have not been discussed. I've read a lot about it, but as explained in my post, my medical history and file is blocking me in doing further research. When reading my file, most doctors almost immediately tell me that I've already had a lot of examinations. And if I try to have a discussion about what it might be, I get flippant remarks...
Avatar universal
I have a friend that has SMA Syndrome and that sounds exactly like what you have. She also has Nutcracker Syndrome and May-Thurner Syndrome which you may possibly have as well. Unfortunately very few doctors understand these conditions. There is a doctor in Germany considered one of the best in the world at diagnosing these Vascular Compression Syndromes. Have you heard of Prof Thomas Scholbach? It might be worth a visit to him if possible.
Helpful - 0
I ran across this, which appears to support what JohnnyRocket says about it being somewhat nebulous:
"There remains some controversy surrounding a diagnosis of superior mesenteric artery syndrome since symptoms do not always correlate well with abnormal anatomic findings on radiologic studies, and symptoms may not resolve completely following treatment... Furthermore, the diagnosis may be confused with other anatomic or motility-related causes of duodenal obstruction..."

It's very recent, but mostly paywall.
1081992 tn?1389903637
Peter, I'm trying to get a better understanding here. Wilkie syndrome (aka SMAS) is a mechanical constriction. Do I understand you correctly that the "severe" constriction is no longer present on scans?

However, if the constriction is still there, then there shouldn't be any reason to look elsewhere, right? If the constriction is still there, then the doctors wouldn't have done all the subsequent investigations, as they'd be superfluous. They also wouldn't accuse you of something like anorexia nervosa ("all in your head") if a proven physical cause is still present.

"...the best doctor in the Netherlands in the field of vascular compressions told me that I didn’t had Wilkie syndrome based on reviewing the CT scan images"
Was he saying that there was no compression, or that there was no *vascular* compression caused by arteries, as in Wilkie's? Or that there is still severe constriction, but it isn't causing your symptoms?

Both the original doc(s) and the top specialist based their opposite opinions on the same CT. What did the subsequent MRI say about the narrowing?

If the constriction was gone or lessened, then maybe it was some transient smooth muscular contraction that caused the intestinal constriction. Maybe that has now returned. That could also explain being sudden onset originally.  (It's hard to imagine that causing severe narrowing, though.)

Or maybe the first major episode caused some permanent damage which is getting worse recently.
Helpful - 0
1081992 tn?1389903637
Here is an FFT from PMC, that also includes a case report that is sudden onset (but no mention of prior weight loss or not):

Co-occurring superior mesenteric artery syndrome and nutcracker syndrome requiring Roux-en-Y duodenojejunostomy and left renal vein transposition: a case report and review of the literature

"A 20-year-old white woman presented to the Emergency Room complaining of sudden onset severe left flank and lower left quadrant abdominal pain, nausea, and vomiting."


This case is the more typical, with prior weight loss and not sudden onset:
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