Another Rare Disease Delayed Diagnosis: Extra Adrenal Pheochromocytoma
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- เผยแพร่เมื่อ 3 มี.ค. 2017
- At Rare Disease in Washington DC, we talked with Brian Wood about the years of being unable to properly get a diagnosis of extra adrenal pheochromatocytoma.
As Brian explains in this interview, the years of high blood pressure, emergency visits, seizures, sporadic episodes of excessive strength and fatigue were not relieved until he was able to get a proper diagnosis and have the tumor surgically removed. - วิทยาศาสตร์และเทคโนโลยี
I cannot imagine what I wouldn't give to have a legit full body scan, read by a non-biased, legit radiologist. I have all the symptoms of a pheochromocytoma, with hyperaldosteronism, refractory hypertension, etc. I feel like I'm living on borrowed time. It's terrifying.
I really appreciate listening to your story. I have a pheo on my right adrenal gland and I'm having a adrenalectomy at Ucla next month. I on blood pressure meds and I have to go way up in dose to have the surgery. The thing that is so bizarre about this tumor, is the rage, anger and anxiety I've had for the last 4 years. Most medications for depression would make me fly off the handle, and I would have these sporadic moments where I would want to go crazy on somebody, even in my mind if I were alone. These high levels of metanephrines explain the anger fits.
This guy is super smart. He sounds better than 95% of licensed doctors I've dealt with... It's absolutely NUTS that they didn't give you an MRI originally. They're very easy, I can't understand that at all. So glad you're doing OK!
Unfortunately, and it is the fact that thy did not order an a scan because insurance would not pay for it and PH/PGs are not immediately life threatening. Totally sucks that money can dictate diagnosis and treatment.
I am so happy to see this information for these tumors. I had pheo, and had been in and out of E.R for 8 years. High blood pressure difficult to keep down, palpitations when lying flat, on my side and bending over diagnosing with Takotsubo cardiomyopathy. Very painful back pain and finally anxiety. The medical family wanted to home in on the anxiety then, but I knew it was more than that. I told an e.r. physician I was not leaving until they found the core reason of all of my symptoms. After two hours of looking over all 8 years of my c t. scans of my heart, my adrenal was just in view and he noticed a growth getting slightly larger each time. He suspected pheochromocytoma the testing was done. This doctor saved my life. 6 months later I had life saving surgery taking a very large mass out that had grown up two heart veins and taking out the offending adrenal gland. This is all very rare partly because people die from the high blood pressure with heart attack and stroke and the problem is found after death. Thank God for sending this physician to think back on his medical student days and doing the research.
What was tha size of the mass ?
@@CloudMadeEasy Several inches. . Had a rogue growth right above my kidney a year later about 5cm. Was removed and have been clear now for almost 2 years.
@@dbentleyto95 Good to hear that.. Had same issue for me.. Have a 7mm growth , pheo test is partially positive.. I got HTN at 27age and not good response with medication .But India getting a good endocrine surgeon is very difficult.. Let's see
@@CloudMadeEasy I wish you success and pain free days soon.
@@dbentleyto95 thnx from past 6yrs suffering from HTN..Doctors are not even identified the problem.. One of the nephrologisg did MRI and metanephrine test hence comes out.. Got some confidence on surgery after seeing people are doing good after having the surgery.. tc sir
I had classic symptoms, but my doctor did not diagnose it. She suggested that I see a shrink. Three days later, I was in an ER. The tumor had ruptured. I was at a teaching hospital. No doctor there had seen one and I almost died in surgery. They did not remove all the tumor or adrenal gland, so three months later I went to M.D. Cancer hospital and they did the second surgery. That was 16 years ago.
Wow, that must have been so scary. I was so relieved when at least I was diagnosed. So happy that you were able to get the help you needed.
MD Anderson? Who was the lead?
Thank you Brian Wood, from a fellow paraganglioma (extra adrenal pheochromocytoma) patient.
Excellent Video! Excuse me for chiming in, I would appreciate your thoughts. Have you considered - Dinanlinson Rebooting Health Approach (search on google)? It is a good one of a kind product for getting rid of chronic fatigue syndrome without the hard work. Ive heard some decent things about it and my cousin got astronomical success with it.
Hi, my name is Greg.
The muscles in my legs, wrist and hands atrophied in the Summer of 1976, when I was twelve (I'm now 59).
Over the next 47 year Drs. ruled out the following: MS, MD, Duchene, Kennedy's, CMT, HSP, FSP, and Silvers. There were probably more, but I can't remember them.
I was first seen, for a week of testing, by Dr. Jerry Mendell in Columbus, Ohio. This was in the summer of 1980. In the summer of 1984, I spent a week at the Mayo Clinic in Rochester, Minnesota.
For the past 20 years, I have seen Dr. John Fink at the University of Michigan. I see Doc every 12-18 months. This past year Dr. Fink again brought up the option of having gene sequencing done. This time we followed through and in December of 2022, we received the diagnosis of SORD Deficiency. It was nice to see the description of SORD's presentation. Finally, a disorder which nailed my personal experience.
You have the great advantage of having world class treatments on this disorder. Here in Oregon, forget it, the patient is screwed.
Thank you for sharing your story. I was misdiagnosed (they believe) possibly two decades. Right Pheochromocytoma, it hemorrhaged, and I had two reverse takotsubos which lead to ending up in ICU and finally full body imaging (misdiagnosed anxiety/perimenopause/agoraphobia at one point) Thanks to one registrar, they clicked onto what was happening and they discovered the 11cm tumor. I am extremely lucky to be here today. The worst symptoms are gone but nearly two years down the track I still struggle.
I'm with you, I have a pheochromocytoma and I'm having an adrenalectomy next month. I also have had agoraphobia for many years and I'm excited to feel calmer after the tumor is removed. ❤🩹
@@bobhanover4841 I have a lot of hope for you, you will not feel the same way after. So glad they found it for you, wishing you a uneventful adrenalectomy and full recovery and a whole new world :D
@@nannajaysadventures Thank you so much sweetheart!!
@@bobhanover4841 how did you go and how are you feeling now?
Can someone tell me if high platelets,low metanephrines,low growth hormone could be symptoms or any other test rhat show up high or low ?
Symptoms like that have wrecked my life and cost me my home and family. A few times.
I was just diagnosed but it’s been 18 years. Began at age 17 in 2004. Also have ACTH dependent Cushings. Nightmare. I don’t even remember what healthy feels like. I have zero quality of life.
Hi Brian. We’ve talked in the Mast Movement Facebook group. I’ve been thinking about you, and just came across this. I hope that you are doing well.
I still have mine on my left kidney recent dx. grew 1CM in 2 months. For 2 years I've had seizures without loss of consciousness(convulsions) with no diagnosis. They blamed all of my symptoms as relating to my PTSD. If it weren't for severe abdominal pain I had a few months ago I would still have no explanation. Now they want to take it out but I'm feeling so tired of doctors that part of me doesn't care that it's gonna kill me if I don't. It's like getting used to symptoms and that's my normal now. There's a small lesion on my right kidney as well but I feel like just saying f it and letting nature take its course. I don't know. I just wanted to tell someone. That's why I am posting this.
I get how you feel. I will be tested, but I do feel like giving up.
I feel your pain I've just been diagnosed with a pheo after 6 blood samples and two 24-hour hour urine test.
Anytime I do anything the slightest bit laborious I sweat profusely. While in the hospital for a other procedure I was asked by my surgeon if I had ever taken methamphetamines because my heart rate was almost 150 beats per minute resting
So hope you are feeling better now.
I'm so glad you got through all this. Take care ❤ I may be dealing with it now, too. I haven't been tested yet.
Bless you
My hematologist is so helpful, he knows so much- outside of his direct field of practice. I'll try asking him for help.
I have been diagnosed with an inoperable carotid paraganglioma and am about to start radiation therapy to try and slow tumor growth. Has anyone here experienced this and what was your outcome? Working in the dark here as this is an extremely rare tumor.
I have bilateral Paragangliomas on my carotids. I saw Dr. Carol Fakhry at Johns Hopkins. I’m undergoing some genetic testing and scans to get more information. Mine is a Shamblin I.
@@aleetajohnson6286 I hope you are able to get the answers for you diagnosis and treatment. Since posting I have had genetic testing and determined that I do not have a genetic mutation so my tumor seems to be a spontaneous. Undetected for many years although health issues for many years. I have undergone 30 radiation treatments to attempt to slow the growth of tumor since it has been determined too dangerous to operate due to size and location. My tumor has not shrunk and continues to impact my health. I do not know what the next steps might be. Also found a tumor on my thyroid which is not cancerous so dealing with that as well. I wish you luck and health. Don't give up and continue to seek the right help. I feel very fortunate as my medical team ( 6 specialist) have been so proactive and caring.
Diagnosis with same .. Looking for a good surgen here in India for surgery but unfortunately it seems hard to find some good endocrine surgeon
I'm a type 1 diabetic, and have been since I was 14 (30 now). I've had odd symptoms getting worse and worse the older I get. I get frequent migraines that have only gotten worse over the years, even with significant treatment, which is usually the opposite of what migraines do. They often get better the older one gets. Now I sweat profusely with minor exertion, I have almost constant headaches, my resting pulse is anywhere between 100 and 120, and I don't have any dip blood pressure when I sleep. I've started throwing yesterday's food up on occasion, my right flank hurts occasionally and it feels like my intestines "stop" periodically as well (get blocked up on my right side). I also get explosive increases in blood sugar without any reason, and I have periods of what feels like anxiety where I don't leave the house for days.
Due to me having diabetes, some doctors just said it was autonomic neuropathy, but my serum noradrenaline (norepinephrine) was high the first time I took the test. A CT scan was ordered and nothing was wrong. The abnormal blood test was brushed off and said it was because of a drug I take for migraines. When I went to see if I have gastroparesis later on, with another doctor, due to me vomiting, she tested it one more time, and it was at the same level as the first time. I went off the drug for 2 weeks, tested again and there was no change in the serum concentration at all.
Due to me only vomiting a few times every couple of months, which isn't normal for gastroparesis (it's more regular vomiting), and all the other symptoms combined, I am now scheduled for a PET scan with F-DOPA, which should have been the first test all along. CT scans are horrible at catching pheochromocytomas. They are specifically looking for a pheochromocytoma now. I'm pretty excited, actually, because a pheo can literally explain all the symptoms I'm having, except the type 1 diabetes, obviously. Even though it's not something I want to have, I would actually be happy if they find one, because it would be an answer to my problems.
@Isabella Buchanan I don't just have hyperglycemia, I have destroyed beta cells, so I don't produce any natural insulin anymore, and have had it since I was 14 (30 now), so it's unlikely anything else other than autoimmune diabetes (type 1).
Anyway, I've had CT/PET scans of my entire body with two different tracers specifically made for finding pheos and paragangliomas down to 1 millimeter in size. There were none to be found... I was/am very disappointed.
The treatment for me now is much more complex than a surgery. I do indeed seem to have gastroparesis - early stages, so was difficult to diagnose, as well as early stage autonomic neuropathy.
I believe I MAY have pheochromocytoma. I've experienced the profuse sweating for almost 8 years now. In addition, I have fatigue and lethargy, headaches, upper left stomach pain (in the area where my spleen is located). I've had a couple of outbursts. The last outburst involved me having a knife in my hand (no one got injured at all). My concern is that my doctor may not even test me for pheochromocytoma. I have an appointment with a hematologist in a month due to having elevated white blood counts, which I've had for at LEAST 10 years.
Who do I talk to that will take my health serious. It's hereditary in my family an my uncle died at 34 of the same thing an my drs aren't taking it serious
I'm 20 I got diagnosed with kidney disease when I was 19 but I feel like I have the same symptoms as this guy. I have been lifting weights for 6 years but recently I feel depressed because I've been getting baaad sleep and I can't recover from my exercises properly. I also have dog poop anxiety, stress, and like a adrenaline rush when I get stressed out. Washington doctors suck because they found marijuana in my piss test and they ultimately thought I was a drug feen trying to get attention. Hopefully someday I will get through this🦍 -Anthony
I have had symptoms over ten years and I have had to go to a ton of drs for different reasons and none of them had a clue what is wrong. Then my ferritin levels kept going up so i went to see a hemotologist who I mentioned my symptoms to and right away hr said he was testing me for these tumors. Im still waiting for results.
My husband almost died from a pheo back in 1988. We’ve been trying to figure out our daughter’s health issues for several years now. Finally had pituitary surgery this summer but it wasn’t a cure. Her symptoms since are more reminiscent of my husband’s pheo symptoms. We are very concerned about her & working on more testing.
And way to go YOU for finally helping yourself! So glad you are better!!
Have you done genetic testing for the MEN genes? Or other endocrine genetic diseases?
Very informative. I got off all my BP meds and suddenly have extremely high blood pressure. Dr blames salt so I did 0 sodium and that did nothing. Went out and had the saltiest meal and my BP was very low the next day. I have these symptoms and they started after a surgical procedure. Who evaluates you for this?
I just finished doing the blood plasma test on Metadrenaline with Blue Horizon lab in London both of the hormones came back normal but in low ranges, one was 17 the other was 30.
I think I should have done instead the 24-hour urine sample test instead it would also have measured the Dopamine hormone, I suspect I have had this illness all along.
An ultrasound of my kidneys showed the left one lopsided & enlarged they even mentioned a small lesion but not sure what this means now they suggested a Drumdary Hump kidney in size.
Any suggestions on what I should do next? thanks for your story Brian Wood it opened my eyes to my recent blood test & kidney results, thank you all
Sorry if this is my third comment. Did you do the genetic test? SDH complex mutations (mitochondrial succinate dehydrogenase). I have the SDHB mutation, most aggressive of the five that can be inherited from either mother or father. Others are paternal line only (SDHA, SDHC, SDHD, and SDHAF2). C, D, AF2 and I can't remember other one are ULTRA rare. Like less than a handful of recorded cases since 1998.
My nephrologist said I have a lesion on each kidney that needs an mri.Could these lesions be this?I have symtpoms of cushings ,but have been having trouble getting any help for many years.Also,can low metanephrines be a sign of this?My metanephtines were on the very low end of normal.
My sister couldn’t get an MRI because she didn’t have prolactin in her blood, but was eventually given an mri and found a pituitary tumor
I also had undiagnosed pheocromocytoma for 9 years
Is it possible for this to be caused or exacerbated by taking a large dose of Prednisone? And is it possible for the only symptom to just be a high heart rate?
Researchers don't know exactly what causes a pheochromocytoma. The tumor develops in specialized cells, called chromaffin cells, located in the center of an adrenal gland. These cells release certain hormones, primarily adrenaline (epinephrine) and noradrenaline (norepinephrine), t
Yes and yes, initially
Paragangliomas are the same tumors as pheochromocytoma except they develop in the neck, cartid artery, vagus nerve, etc. Genetic mutation testing is strongly recommended. If you do have a mutation in one of the mitochondrial succinate dehydrogenase (SDH) complex, in SDHA, SDHB, SDHC, SDHD, or SDHAF2, tumors start growing when mutated cell deletes a good one. Like you said, nobody knows what causes them to start 'deleting'. @@dbentleyto95
My daughter has almost all the symptoms for Pheochromocytoma. Endocrinologist tested for Pheochromocytoma and said her blood and urine are all normal. I can’t believe that. Where do we go next? We’re in northwest Arkansas. The ER trips for very high pulse rate, blood pressure, & glucose.... in addition to severe headaches and sweating are really wiping her out. Any suggestions? All her cardio tests came back normal as well except some BUN level came back low. Feeling helpless here.
How old is your daughter my boyfriend also have a bunch of symptoms hes in diagnosis process now
Go to M.D. Anderson in Houston Texas. They removed mine. I had one surgery in Lubbock, Texas...they did not get all the tumor. Repeat surgery at M.D. Anderson. that is not real far from Arkansas. Good Luck.
Ronafel Begino 21 years old
Dreaming Ok thank you!
Dysautonomia syndromes like pots can cause those symptoms. Mastocytosis is another rare disorder that can cuases those symptoms. Histamine intolerance can cuase thoose symptoms. Adrrnal medullary hyperplasia mimics that disorder. Also if your daughter blood and urine was tested at a time the tumor is not active it won't show a an increase in catocholamines.
I'm undergoing testing for this, when you listed off the symptoms I was like fuck... I have all of that including excessive tachycardia :(
do you have it?
@@maximum2918 I put off doing the labs for it for a while because I just wanted to live a normal life with the meds, but after doing the labs it did show excessive adrenaline and noradrenaline, doing an MRI later this month.
@@ProChargedLS2 okk well good luck. I'm a major hypochondriac so I can't tell how likely it is I actually have this condition but I guess I should get checked anyway
@@maximum2918 you have the symptoms I'm assuming? It's pretty easy to do the labs for it, you just get some blood drawn to check your catacholamines and a 24 hour urinalysis.
I just done adrenalectomy. both my adrenal glands were removed completely because of bilateral pheos
After 9 years of pheocromocytoma I have type 1 diabetes and a tumor in my ear causing complete hearing loss in my right ear😢 I understand azatrine can cause this pheocromocytoma
We must be so rare. I have been diagnosed with pheochromocytoma.
We are rare! 3 in a million on average. If you have a paraganglioma, Carotid, Vagal, upper spine, basically anywhere in the neck, secreting paragangliomas are another 3 in a million on top of that.
Did you do a genetic test to check for mutations? About 40% of PH/PG diagnoses come with and SDH mutations. A, B, C, D, AF2. C, D, and AF2 are ultra rare. SDHA can only be passed by a father, SDHB is an aggressive on and can be passed from a mother or father. Its a cheap test. Takes three + weeks. Most are send away. If you have been diagnosed, do the test and if positive (I have a linear SDHB mutation), test your kids. Mutation only goes to the next generation. God willing kids are clean, it will die with us. Stay strong.
@@Koopyspappy You have really been through allot. Did you have surgery or chemotherapy? Mine speed from the adrenal gland on my kidney to inside the bone of my hip. I had surgery in December to remove the tumor off my kidney. I'm one of the even more rare that my pheochromocytoma is cancerous. I feel many of the same symptoms you described, but mine got allot better after the surgery. I would love to stay in contact with you. I may never know another person on the planet with this condition. Please write to me on my channel. Let's be TH-cam friends.
I suspect that I may have a pheochromcytoma/para.. I've been sick for so long.. I recently took a plasma metanepherine test, my results were normal, I feel so defeated.
Get an MRI
Go for #vma if metanephrine is normal !
I've been diagnosed pheochromocytoma.
Pradeep, how are your metanephrine levels?
What is “vma ”?
vanillylmandelic acid
I had 0 symptoms, my blood work for adrenal glands were excelent. I found out i have a tennis ball sized pheo when doing randome MRI for my back… got lucky…
Do ur eyes itch and ur head
Hey Love you
I had this at 15 and the size of a grapefruit,