Discussions By Condition: I cannot get a diagnosis.

DESPERATE - 17 doctors - no diagnosis

Posted In: I cannot get a diagnosis. 11 Replies
  • Posted By: Tara_the_Terror
  • May 27, 2011
  • 06:53 AM

Hi all,

I am a 40 yo female with seronegative RA for last 5 years.

7 months ago, I started developing massive bilateral pitting edema in my legs. At first, I assumed it was just my RA again, as a flare produces painful swelling in my feet.
This wasn't as painful, nor did I have the associated malaise with a flare.
I went to my RA, he dismissed me as I have a number of fibromylagic complaints, and he thinks we're all fakers, essentially.
Referral to another Rheumatologist. This doc had moved into MY RA's office the week before, and followed suit with my doc...

He didn't examine me, but rather glanced at my feet, telling me that it couldn't be RA, because "RA is only in the hands" (Really? Someone get this guy a medical journal), and that the swelling was "caused because I was fat".
WHAAT? He then prescribed me Cymbalta for the fibro and sent me on my way.

Frustrated, further humiliated and depressed the swelling proceeded to get so bad, I couldn't walk, bend my legs or really do anything without extreme pain. One night the swelling had filled me up to my abdomen - we went to emerg - the doc wouldn't treat me because he "didn't know what it was". AAARGH. He tested my heart and lungs=fine. Sent me home.

Went to my GP in desperation - prednisone prescribed. Slight improvement over several days. When I stopped the swelling returned with a vengeance.

Back to emerg by ambulance when I started having shortness of breath. Another doc unwilling to treat me because he didn't know what "it" was.

Referral to their "Rapid Assessment Team". Their "Doctor House" equivalent. Spent an entire week getting every major test/scan under the sun. Heart, Kidney, Liver function is all good. I was low in calcium which made no sense as I drink about a liter of skim milk a day. (Addicted). They found nothing....and they just kinda stopped looking and shrugged shoulders.
Oh - first Doctor(s) to prescribe anything = diuretics.
And sure, they helped with 'some' of the swelling.

Back to my GP. Screaming in frustration, he is equally frustrated. It has now been 7 months and the swelling isn't going anywhere. He scheduled ultrasounds of abdo and pelvis to look for a "mass". I had those today.

DEAR GOD WHAT DO I HAVE? PLEEEEEASE HELP ME, I FEEL LIKE NO ONE IS LISTENING OR HELPING ME. I have literally been trapped in my own body and house for 7 months and I am desperate.

Thanking you in advance if you can shed any light.

~Tara

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11 Replies:

  • Are both legs equally bad? Did they rule out pulmonary embolism when you were short of breath in the ER? It's a long shot, but could it be something vascular?There is a condition called May-Thurner syndrome. It is when the right iliac artery compresses the left iliac vein against the spine. This causes the blood to congest in the left leg because it can not normally pass the compression on its way back to the heart. It does not necessarily results in the pain at the compression site (if it does it gives a lower back pain); most often it causes pain or swelling or both in the left leg and/or buttock. (Sometimes the anatomical structures are different and this can happen on the right side). If you have a compression like this, after a while your circulatory system is trying to develop alternative veins. They are called collateral veins. Most often there are transpelvis collaterals (horizontal ones from left to right in pelvis), but some patients can develop them near the spine or even inside it. Then it can give pressure on nerves and give numbness and tingling sensation in legs. Another typical symptom is ambulating pain, the pain moves around depending on where the pressure is high at the moment. Also, the pain subsides when you lay down. This condition is vastly underdiagnosed. It is impossible to discover with ultrasound and even difficult to discover with venography (phlebography). The only certain way to discover it is by means of intravascular ultrasound (IVUS) where the probe is inside the vein. The best research has been done by Neglén and Raju in Jackson, Miss. The treatment is to put a stent inside the vein at the site of the compression. The typical patient is a young – middle-aged woman, previously healthy where the doctors have not found other explanation for the symptoms. If left untreated, there is a big risk of thrombosis either at the compression site in the left common iliac vein or in the left leg, which can result in pulmonary embolism. Could this possibly help? The best of luck!
    Felsen 510 Replies Flag this Response
  • Felsen: Are both legs equally bad? Did they rule out pulmonary embolism when you were short of breath in the ER? It's a long shot, but could it be something vascular?_____Thank you so much for your response - both legs are equally bad, yes.The ER did a chest x-ray and blood test, said it wasn't my heart or lungs - and sent me home.I 'have' been reading about vascular issues, however - and I can't recall the name of the condition - but the veins in the legs become stretched, resulting in the blood not being able to be pumped back up to the heart as efficiently, resulting in fluid build-up. The treatment is much as you described, too, coincidentally.I should be getting the results of my ultrasounds early next week - if nothing shows - I will be following up with the vascular lead.Thank you so much for your input.Regards,~Tara
    Tara_the_Terror 4 Replies Flag this Response
  • low in calcium, yet drinks tons of milk. vitamin D enables you to absorb calcium.it acts more like a hormone than a vitamin, and has a part in most every system in your body. i was having dizzy spells from being deficient, as well as headaches, nausea, vertigo (not the same as dizziness), chest pain, you name it.this is not necessarily a solve-all suggestion, but vitamin D deficiencies have very strange symptoms in a body, and especially effect women.
    olde one 2 Replies Flag this Response
  • vitamin D enables you to absorb calcium.it acts more like a hormone than a vitamin, and has a part in most every system in your body. i was having dizzy spells from being deficient, as well as headaches, nausea, vertigo (not the same as dizziness), chest pain, you name it. this is not necessarily a solve-all suggestion, but vitamin D deficiencies have very strange symptoms in a body, and especially effect women ___________Thanks for your response. And yes, vitamin D deficiency seems to be far more common than people realize. It's also one of the things they look for, and monitor, when being diagnosed with RA. I take vitamin supplements, and have a balanced diet.I'll also throw in that I have normal to low blood pressure, also.Oh - and since the onset of the swelling, I have seen rapid weight gain - :mad::confused: I have gained about 70 lbs since August. You read that correctly.If I was a horse, I'd be dog food already.
    Tara_the_Terror 4 Replies Flag this Response
  • Do really consider what olde one said in regards to calicum and vitamin D. Vitamin D as olde said is actually a hormone and is doctors are still learning the importance of it. Back to emerg by ambulance when I started having shortness of breath. Another doc unwilling to treat me because he didn't know what "it" was. Its can be near impossible to treat someone if one dont know what is causing the issues. Unfortunately there are so many different illnesses and doctors usually only really know about illnesses in their own fields (eg general practioners tend to know about common things).So that leaves us with rarer symptoms often hunting for a long time to work out what we have and then find the right specialist for....... Your line of thinking of maybe along the lines of vascular may be correct as your swelling makes me think of the area of swelling in POTS which some think happens due to there being some kind of vascular issue (they still dont know what exactly the issue is) where the veins arent getting the fluid back up the body, so blood can pool in the legs and abdomen causing flushing of the legs and swelling. You thou dont appear to have POTS as you dont have symptoms of the low blood volume (hypovolemia) and tachycardia which happen in POTS but just have this comparative swelling thing in lower body so possibly thou you dont have POTS.. you could have a similar thing in another way physiologically going on as far as "vascular" or whatever it is going on. "Patients with POTS or CFS frequently display acrocyanosis and swelling (pooling) in their lower extremities. The literature contains a number of potential explanations for abnormal venous pooling and fluid collection in POTS, including impaired innervation of the veins or in the veins' response to sympathetic stimulation. These potential explanations include the following: An autonomic neuropathy that predominantly affects the lower extremities, resulting in alpha1-adrenergic denervation hypersensitivityDecreased beta1-receptor sensitivityAlpha1-receptor supersensitivityAltered venoconstrictionIncreased capillary filtrationAlpha1-adrenergic control of venous filling in response to baroreflex stimulation during orthostasis is important, however, only in the splanchnic circulation in humans, while involvement of skeletal muscle beta1-receptors remains controversial. Alpha-adrenergic effects may also alter venous filling but only indirectly through arterial vasoactivity. Stewart has shown that blood pooling in patients with POTS and CFS is caused by a defect in arterial vasoconstriction that may be baroreflex sensitive in some cases and baroreflex insensitive in others. Increased venous filling and enhanced microvascular filtration during orthostasis result in pooling. Blood is redistributed peripherally and redistribution is enhanced during orthostasis, producing increased microvascular filtration and dependent edema. Central hypovolemia causes reflex tachycardia. POTS results in a circulation at high risk for simple fainting because of an underfilled thoracic vascular bed. The physiology resembles hemorrhage or hypovolemia in many ways because the tachycardia and malperfusion are noted first but can proceed to hypotension, loss of consciousness, or both. Jacob et al provided strong support for a defect in adrenergic vasoconstriction and recently demonstrated reduced norepinephrine spillover in patients with POTS consistent with defective innervation of the periphery. Findings were accentuated in the lower extremities. POTS likely has many etiologies. The recent discovery by Robertson et al of an aberrant gene for the norepinephrine reuptake transporter protein is an example. This aberration produced alternating hypertension and hypotension in a set of twin sisters that was dependent on the state of norepinephrine stores. Although this gene now seems confined to a single family, the study results indicate a variety of neurovascular abnormalities that could potentially cause postural tachycardia and associated symptoms of orthostatic intolerance. The importance of active venoconstriction to the orthostatic response is uncertain. Venous capacitance properties in POTS could be abnormal because of altered vascular structure, altered muscle tone, or both. An example may occur in the Ehlers-Danlos syndrome (EDS). Perhaps paradoxically, excess lower extremity pooling seems uncommon in common variants of EDS (eg, type 3). Preliminary data also indicate no change or even a decrease in venous distensibility compared to reference ranges. The chronic elaboration of cytokines with potent vasoactive consequences, such as interleukin (IL)-1, IL-6, and tumor necrosis factor alpha (TNF-alpha), is a potential link between altered vasoreactivity and antecedent inflammatory disease. Such a link seems established in the type of CFS in which POTS and orthostatic intolerance frequently occur. "
    taniaaust1 2267 Replies Flag this Response
  • I thought olde one gave you some good advice on the calicum and D as he/she said D and calicum work together and D isnt a vitamin as such but a hormone. Ive found that most doctors dont know much at all about vitamin D and just how important it can be.. that info is still getting out. Ive been doing some research on the type of swelling you have as Ive found your case interesting. "Idiopathic edema is the abnormal retention of fluid that, after a thorough clinical examination and laboratory investigation, has been found to have no known cause. Orthostatic edema, the most common form of idiopathic edema, is a generalized systemic disorder that has a wide variety of presentations and many associated symptoms. Weight gain typically occurs throughout the day, with excessive increments from morning to evening. The edema is most evident in the legs, feet, or abdomen after prolonged sitting or standing, but may occur in other areas." " Case 1A 12-year-old girl was evaluated in an adolescent medicine consultation setting for a 10-month history of swelling in both lower extremities. The swelling started in both feet shortly after menarche and gradually extended up to the knees. It was progressively worse toward the end of each day. The patient also had nocturnal enuresis. Results of the following laboratory studies were within normal limits: complete blood count, erythrocyte sedimentation rate, electrolytes, serum albumin and total protein, liver enzymes, serum thyroxine and thyroid-stimulating hormone, urinalysis, antinuclear antibody, rheumatoid factor, C3 and C4 complement, creatine kinase, C1 esterase inhibitor level (qualitative and quantitative), and chest radiography. She was not in heart failure. No evidence of lymphedema praecox or other lymphatic abnormality was detected when lymphoscintigraphy was performed. Orthostatic edema was diagnosed, and treatment with ephedrine 25 mg orally in the morning was initiated" both the above quotes are from http://pedsinreview.aappublications.org/cgi/content/extract/26/4/115..... The above sounded to me what you have. I know POTS (postural orthostatic tachycardia syndrome) patients which is an orthostatic issue can get blood pooling in both the legs and abdomen as just one of the symptoms of that disorder. (You certainly dont sound like you have POTS as you only have that one symptom of it thou but I keep thinking your issue may be an "orthostatic" one esp if you get progressively worst over the day hence did search on swelling and orthostatic which lead to the above quotes). So Im going to take a guess and from the info I just found say it sounds like Idiopathic Edema and to maybe research that area. ....... Tests for Idiopathic Edema"Morning and Evening Weights: Patients should weigh themselves nude and with an empty bladder before food or fluids in the morning and at bedtime. A mean weight gain >0.7 kg is consistent with idiopathic edema.Water Load Test: After avoiding diuretics for at least 10 days, the patient drinks 20 mL/kg body weight (maximum 1500 mL) uniced water over 20 minutes, sometime between 7:30 AM and 9:00 AM. The patient collects urine every hour, starting 1 hour before the oral fluid load and ending 4 hours after. On the first day, the patient should be walking slowly or standing during this 4-hour period. On the second day, the patient repeats the fluid load and urine collection, but should be recumbent during the 4-hour period. In patients with idiopathic edema, less than 55% of water load is excreted in the upright position and more than 65% in the recumbent position."
    taniaaust1 2267 Replies Flag this Response
  • Hi all, I am a 40 yo female ""Idiopathic Edema. Idiopathic edema occurs only in menstruating women and is most common in the 20s and 30s. Synonyms include fluid-retention edema, orthostatic edema, cyclical edema, and periodic edema. However, the symptoms persist throughout the menstrual cycle, and idiopathic edema should be distinguished from premenstrual edema. Idiopathic edema leads to pathologic fluid retention in the upright position, and women typically notice a weight gain of >1.4 kg as the day progresses. However, the weight gain may be as little as 0.7 kg. ""........ " Idiopathic edema is a pitting edema of unknown cause that occurs primarily in pre-menopausal women " http://www.medicinenet.com/edema/page6.htm
    taniaaust1 2267 Replies Flag this Response
  • " Case 1A 12-year-old girl was evaluated in an adolescent medicine consultation setting for a 10-month history of swelling in both lower extremities. The swelling started in both feet shortly after menarche and gradually extended up to the knees. It was progressively worse toward the end of each day. The patient also had nocturnal enuresis. Results of the following laboratory studies were within normal limits: complete blood count, erythrocyte sedimentation rate, electrolytes, serum albumin and total protein, liver enzymes, serum thyroxine and thyroid-stimulating hormone, urinalysis, antinuclear antibody, rheumatoid factor, C3 and C4 complement, creatine kinase, C1 esterase inhibitor level (qualitative and quantitative), and chest radiography. She was not in heart failure. No evidence of lymphedema praecox or other lymphatic abnormality was detected when lymphoscintigraphy was performed. Orthostatic edema was diagnosed, and treatment with ephedrine 25 mg orally in the morning was initiated" both the above quotes are from http://pedsinreview.aappublications.org/cgi/content/extract/26/4/115..... The above sounded to me what you have. So Im going to take a guess and from the info I just found say it sounds like Idiopathic Edema and to maybe research that area. ____________________________Tanya - awesome post - I definitely think you're onto something there. I do, however, have a sed rate of 550 and I know my Ck level is high - both due to my RA.I am definitely making this case known to my GP as soon as possible.Thank you SO much for taking the time and effort - it means so much to me - truly.Kind regards,~Tara
    Tara_the_Terror 4 Replies Flag this Response
  • Me again.Update: My GP says no to the idiopathic orthostatic edema, as I already have one source of the edema: my RA - and therefore thinks it's 'another' auto-immune condition. He didn't explain his rationale in his email.Is this common? Can people have, for example, Lupus and MS, or RA? How rare/common is it for patients to have multiple auto-immune conditions?Incidentally, both my pelvic and abdominal ultrasounds came back clean - meaning I am back at square one with testing.____________________________I appreciate I am not a doctor, as that is why I am here - but something that I have had throughout my entire life, are inflammatory conditions:Chronic ear-aches until age 11Chronic tonsilitis to this dayBronchitisPleurisy x 1Pneumonia x 3EndometriosisAsthmaHayfeverSero-negative RADoes anyone think this is worth looking at holistically, or one has nothing to do with the other?ANY ideas are SO appreciated.Thank you, again,~Tara
    Tara_the_Terror 4 Replies Flag this Response
  • Me again. Update: My GP says no to the idiopathic orthostatic edema, as I already have one source of the edema: my RA - and therefore thinks it's 'another' auto-immune condition. He didn't explain his rationale in his email. Is this common? Can people have, for example, Lupus and MS, or RA? How rare/common is it for patients to have multiple auto-immune conditions? It is true that ones with a auto-immune condition have a much higher chance of getting another one then someone who hasnt got an autoimmune issue. I thou havent ever read of the exact stats thou for it so cant give you what percent the risk raises by.
    taniaaust1 2267 Replies Flag this Response
  • I know you probably don't want to hear this but keep looking for new doctors, even though you've already done that. Years ago I nearly died from an infection in my nasal cavity that threatened to spread to my brain. I had several doctors just scratch their heads. Luckily, I kept on looking and found a doctor who knew what I had almost immediately. He treated me on the spot and I got better fast. Someone definitely knows, it's just that you need to find that person.Travel if you must, but don't stop looking!
    Anonymous 42789 Replies Flag this Response
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