Discussions By Condition: I cannot get a diagnosis.

Multiple conditions - can't get diagnosis

Posted In: I cannot get a diagnosis. 20 Replies
  • Posted By: Voltrael
  • February 5, 2008
  • 06:58 PM

My wife has several conditions which affect her quality of life, make her unable to work, and affects her ability to do what she wants to do as a wife and mother. We believe she may have multiple diseases or conditions, and that they possibly are affecting each other.

Her basic symptoms:

She has pain, mainly in her joints. She started having pain when she was about 10 years old. She is now 29. Unmedicated the pain is great enough to keep her from being able to perform almost any task. The pain is most pronounced in her feet, knees, hips, and hands.

She has had some doctors tell her she had arthritis, osteo and/or rheumatoid. She has had other doctors tell her she doesn't.

She displays many symptoms of lupus. She has flares where her joints become even more painful. She will get a rash on her face. She goes through periods where she loses a significant amount of hair, and her hair grows much slower. She has sun sensitivity. She gets ulcers in her mouth at times. She has constant fatigue, and far less energy than a "normal" person. However, she always tests with a negative ANA, so doctors all rule out lupus.

She gains water weight. In the span of a couple days, she can gain 30 pounds due to retained water. The more active she is, the more water she retains. To lose the water she always needs to take diuretics, and lie down for up to half a day.

She has hidradenitis suppurativa.

She has chronically low potassium and magnesium. This is made worse by using diuretics, but her levels are still clinically very low even when she stays off the diuretics for a while. Her and her mother have both been diagnosed with Gitelman's syndrome.

No matter what medication she might need, she always seems to need a much higher dosage than "normal" for it to be effective. She has trouble digesting food, and will sometimes find whole, undigested pills in her stool.

We currently seem to bounce around, from doctor to doctor, hoping to find someone that can actually help. Her pain issues are the toughest to get anyone to address. She started taking narcotics for pain about 9 years ago, and at this point requires levels that most doctors are not comfortable prescribing.

Any ideas anyone might have on what might be the underlying condition or conditions causing the problem would be appreciated.

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20 Replies:

  • Hi there!I looked up Gitelman's syndrome in Pub Med. There's one journal article listed that links it to a condition called Calcium Pyrophosphate Dihydrate Crystal Deposition, which seems to be some kind of arthritis. So I did another search on the CPDCD and here's an abstract for an article on it. It's in medical terms, but perhaps you can pick out some useful things or bring it to her rheumatologist. It sounds like your wife definitely has some kind of rheumatologic process going on. You might want to try another rheumatologist who can zero in on a correct diagnosis for her, if her current one is unwilling or unable. Here's the clip from Pub Med:"Calcium pyrophosphate dihydrate deposition (CPPDD) disease is the term used to describe a group of common and potentially severe metabolic arthropathies. In these, CPPD crystals form and are deposited in the cartilage matrix (chondrocalcinosis) and induce inflammatory and/or destructive mechanisms. Most cases are idiopathic, but hyperparathyroidism, hemochromatosis, hypomagnesemia and hypophosphatemia can promote or cause chondrocalcinosis. Early disease (with onset before the age of 60 years) thus requires that the patient be examined for these metabolic conditions, particularly hemochromatosis. The prevalence of CPPDD disease in the general population increases with age, being 10-15% in the age group 65-75 years and more than 40% in the over-80s. Although frequently asymptomatic, chondrocalcinosis can involve severe acute attacks of inflammatory arthritis (pseudogout) and also various types of chronic arthropathy including pseudorheumatoid arthritis, pseudo-osteoarthritis, and pseudoneuropathic joint disease. CPPD crystals can also be deposited in the bursae, ligaments, and tendons and generate inflammation and/or ruptures. The diagnosis is based on synovial fluid analysis (positively birefringent CPPD crystals visualized by compensated polarized light microscopy) and X-rays (punctate and linear radiodense areas in fibrocartilage and hyaline cartilage). Treatment is primarily symptomatic, since there is no known drug that can prevent progression of the joint destruction). Nonsteroid anti-inflammatory drugs (NSAIDs) and intra-articular or systemic glucocorticoids (amounts must be only small if use is prolonged) are the most useful treatments. Colchicine can be effective in recurring pseudogout, and magnesium can be used prophylactically. In a small uncontrolled series methotrexate was effective and aroused interest; it can be used when other treatments fail."It's from the following source:Z Rheumatol. 2007 Nov;66(7):573-8.I din't show the name of the article linking Gitelman's to the above condition, but if you do a pub med search on Gitelman's you will find it.Good Luck getting a more solid answer!
    Anonymous 42789 Replies
    • February 6, 2008
    • 02:12 AM
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  • She has had some doctors tell her she had arthritis, osteo and/or rheumatoid. She has had other doctors tell her she doesn't." Ive not a clue about your wifes problem but osteo and/or rheumatoid arthritis can be ruled out or confirmed by tests.. rheumatoid can usually be confirmed via blood test and osteroarthritis via xrays. So Im wondering why her doctors seem to be guessing at what is causing what. She has chronically low potassium and magnesium. " Magnesium is needed for more than 300 biochemical reactions in the body. It helps maintain normal muscle and nerve function, keeps heart rhythm steady, supports a healthy immune system, and keeps bones strong. Magnesium also helps regulate blood sugar levels, promotes normal blood pressure, and is known to be involved in energy metabolism and protein synthesis 2-3]." maybe the low magnesium is causing some of her problems. If she cant absorb it properly why isnt her doctor giving it to her intravenously???
    taniaaust1 2267 Replies
    • February 6, 2008
    • 11:40 AM
    • 0
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  • Hi again, I just thought I'd provide the link that I left out last time, in case you or your wife would like to see the link between Gitelman's syndrome and the crystal deposition disease listed above. Also, from the abstract for the crystal deposition arthritis, it sounds like to make a diagnosis, there are two tests they can do: take some joint (synovial) fluid out and look at it under the microscope (sounds painful!), and X-rays. Your wife has probably already had X-rays done, so maybe you can compare the report to the expected findings for CPPD:For the synovial fluid analysis, they will see positively birefringent CPPD crystals visualized by compensated polarized light microscopy if your wife has this disease, and on X-ray, the may see punctate and linear radiodense areas in fibrocartilage and hyaline cartilage.Here's the listing for the journal article linking the Getelman's and the crystal deposition disease (there is no abstract given):Volpe A, Caramaschi P, Thalheimer U, Fava C, Ravagnani V, Bambara LM, Biasi D.Familiar association of Gitelman's syndrome and calcium pyrophosphate dihydrate crystal deposition disease--a case report.Rheumatology (Oxford). 2007 Sep;46(9):1506-8. Epub 2007 Jul 31. No abstract available. PMID: 17666441 Your wife's low magnesium is called hypomagnesemia and may be what is causing her to collect the painful crystals in her joints, if that is what's going on.To do a pub med search on your own, go to:http://www.ncbi.nlm.nih.gov/sites/entrezand type in either Gitelman's syndrome, or, better yet, Calcium Pyrophosphate Dihydrate Crystal Deposition.I hope this helps somehow.I hope you and your wife find an answer and relief from her chronic pain.
    Anonymous 42789 Replies
    • February 6, 2008
    • 09:53 PM
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  • CanLyme - Click on symptoms: http://www.canlyme.com/ When to Suspect Lyme: http://www.angelfire.com/biz/romarkaraoke/whento.htm Lyme Disease - A Hidden Epidemic: http://www.freewebs.com/teenswithlyme/index.htm Lymenet: http://flash.lymenet.org/ubb/ultimatebb.php Every one of her symptoms, even her deficiencies, are classic of chronic Lyme/coinfections. Please have her join Lymenet and post that she needs to find a Lyme Literate Medical Doctor in her area and a reliable lab - even if she's been negative. I walked around for decades in distress - even an ID doc missed mine. She's been tested for Lyme disease multiple times, and doesn't have it. Thank you for this suggestion, though. We kind of wish it was Lyme, since then we'd have a course of treatment.
    Voltrael 2 Replies
    • February 8, 2008
    • 02:06 PM
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  • I did a little bit more research on the Calcium Pyrophosphate Dihydrate Crystal Deposition, and it apparently is also called "Pseudogout". It is often mistaken for both osteoarthritis and rheumatoid arthritis.I don't think it explains the other symptoms of hair loss, rash, hidradenitis suppurativa, etc. But perhaps these could be related to the Gitelman's in some way. For example, perhaps by losing magnesium and other nutrients in her kidneys (urine), your wife may not have the appropriate nutrients to nourish her hair follicles and so her hair is thinning. I don't know, it's just a hypothesis.I did not do an extensive Pub Med search for the other symptoms and the Gitelman's. You might want to try doing one for Gitelman's and Hiradenitis suppurativa, or Gitelman's and allopecia.I imagine that the need for increased medications may be from renal loss, but am not sure.Not sure if any of this, or the above, is helpful.I hope you guys get better answers soon.
    Anonymous 42789 Replies
    • February 9, 2008
    • 01:01 AM
    • 0
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  • Hello, This may not help but it seems that she has several symptoms of hypothyroidism. This would account for most of her symptoms, except for the ulcers and another one. Just wanted to let you know that the symptoms seemed familiar.
    Rourensu 2 Replies
    • February 11, 2008
    • 03:55 AM
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  • So if they have ruled out Systemic lupus erythematosus, then they must have ruled out Porphyria also?
    TerryG 120 Replies
    • February 11, 2008
    • 00:47 PM
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  • What kind of hair loss is she experiencing? I'm currently suffering from severe canker sores, last week I had 13 at one time; and alopecia.
    Anonymous 42789 Replies
    • February 11, 2008
    • 08:19 PM
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  • So if they have ruled out Systemic lupus erythematosus, then they must have ruled out Porphyria also?There aren't any neurological symptoms for it to be porphyria. Also doesn't explain joint pain or weight gain.
    Rourensu 2 Replies
    • February 11, 2008
    • 08:40 PM
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  • I looked up Gitelman's syndrome on this site (WD), and they list chronic dermatitis as a symptom of Gitelman's...Also, I looked up the symptoms of magnesium deficiency and they can include fatigue, poor appetite, irritability, insomnia, muscle tremors/twitching, apathy, confusion, poor memory, rapid heartbeat, numbness, tingling, muscle spasms, delerium, psychosis, and arterial spasm including the coronaries which supply the heart.Not sure if any of this applies to your wife.
    Anonymous 42789 Replies
    • February 12, 2008
    • 03:55 AM
    • 0
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  • Regarding her arthritis, Has she or is she taking Methotrexate for the pain? or which medication? How bad is the sun sensitivity, blisters? For how long has she been suffering from the lupus like symptoms? Not all porphyria is neurological.
    TerryG 120 Replies
    • February 12, 2008
    • 05:17 AM
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  • Or is your wife on Naproxen?
    TerryG 120 Replies
    • February 12, 2008
    • 00:41 PM
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  • Elke, Went off on a different tangent to you but ended up at pseudogout, CPPD crystals, Gitelman's syndrome also. I believe I have some answers for this gentleman, just need the name of the possibly NSAID med to fill in the gaps. If we haven't heard from him tomorrow will explain without it.
    TerryG 120 Replies
    • February 14, 2008
    • 11:51 AM
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  • has she had a provoked heavy metal urine screen?
    Anonymous 42789 Replies
    • February 14, 2008
    • 01:10 PM
    • 0
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  • Its quite possible she suffers from a condition called Pseudoporphyria which would explain the lupus like symptoms."Pseudoporphyria is a cutaneous phototoxic disorder that can resemble either porphyria cutanea tarda or erythropoietic protoporphyria . tetracycline, furosemide, voriconazole and naproxen have been implicated. the eruption may begin 1 day to 1 year after initiation of therapy. PCT pseudoporphyria is characterized by sun sensitivity, skin fragility, blister formation and scarring in areas exposed to the sun.it occurs with normal porphyrin metabolism.The second clinical pattern mimics EPP and presents as cutaneous burning, erythema, vesiculation, angular scars and waxy thickening of the skin." I believe this is very rare, affecting 1 to 2 percent of people. As you can see many drugs have been implicated http://www.thedoctorsdoctor.com/Diseases/pseudoporphyria.htmAs you can see a high number of children developing PP while taking Naproxen for juvenile arthritis. http://arthritis-research.com/content/9/1/R10I'm only using Naproxen as an example, they do warn of the chances of developing pseudoporphyria and also pancreatitis. I did find a association between erythropoietic protoporphyria and acute pancreatitis but it could be because of the meds This would possibly explains the digestion, malabsorption issues.When it comes to weight gain in a short period of time you have to look at the meds. eg: Naproxen states- "Stop taking and seek medical attention immediately if swelling or rapid weight gain occurs". Finally, to do with the possible pseudogout, has she had her iron levels checked? excees iron points to hemochromatosis which increases the risk of developing CPPD crystal deposits. http://patients.uptodate.com/topic.asp?file=arth_rhe/5179Hope this helps. Regards.
    TerryG 120 Replies
    • February 16, 2008
    • 05:46 AM
    • 0
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  • Its quite possible she suffers from a condition called Pseudoporphyria which would explain the lupus like symptoms."Pseudoporphyria is a cutaneous phototoxic disorder that can resemble either porphyria cutanea tarda or erythropoietic protoporphyria . tetracycline, furosemide, voriconazole and naproxen have been implicated. the eruption may begin 1 day to 1 year after initiation of therapy. PCT pseudoporphyria is characterized by sun sensitivity, skin fragility, blister formation and scarring in areas exposed to the sun.it occurs with normal porphyrin metabolism.The second clinical pattern mimics EPP and presents as cutaneous burning, erythema, vesiculation, angular scars and waxy thickening of the skin." I believe this is very rare, affecting 1 to 2 percent of people. As you can see many drugs have been implicated http://www.thedoctorsdoctor.com/Diseases/pseudoporphyria.htmAs you can see a high number of children developing PP while taking Naproxen for juvenile arthritis. http://arthritis-research.com/content/9/1/R10I'm only using Naproxen as an example, they do warn of the chances of developing pseudoporphyria and also pancreatitis. I did find a association between erythropoietic protoporphyria and acute pancreatitis but it could be because of the meds This would possibly explains the digestion, malabsorption issues.When it comes to weight gain in a short period of time you have to look at the meds. eg: Naproxen states- "Stop taking and seek medical attention immediately if swelling or rapid weight gain occurs". Finally, to do with the possible pseudogout, has she had her iron levels checked? excees iron points to hemochromatosis which increases the risk of developing CPPD crystal deposits. http://patients.uptodate.com/topic.asp?file=arth_rhe/5179Hope this helps. Regards. My wife takes large amounts of diuretics, due to her idiopathic edema. She doesn't take naproxen at all. She does take large amounts of advil, since without a diagnosis doctors are hesitant to give her sufficient doses of narcotics to manage her pain.
    Voltrael 2 Replies
    • February 21, 2008
    • 05:12 PM
    • 0
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  • Read- What are the possible side effects of Advil?http://www.drugs.com/advil.htmlRead- Non-steroidal anti-inflammatories.http://www.lupus.org/education/topics/cutaneous_side.htmlI'm not saying I'm right, I'm just looking at this from a completely different angle. If Advil useage predates all other symptoms other than arthritis/gout then I suggest this be considered.
    TerryG 120 Replies
    • February 22, 2008
    • 02:11 AM
    • 0
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  • Stills Disease? My wife has several conditions which affect her quality of life, make her unable to work, and affects her ability to do what she wants to do as a wife and mother. We believe she may have multiple diseases or conditions, and that they possibly are affecting each other. Her basic symptoms: She has pain, mainly in her joints. She started having pain when she was about 10 years old. She is now 29. Unmedicated the pain is great enough to keep her from being able to perform almost any task. The pain is most pronounced in her feet, knees, hips, and hands. She has had some doctors tell her she had arthritis, osteo and/or rheumatoid. She has had other doctors tell her she doesn't. She displays many symptoms of lupus. She has flares where her joints become even more painful. She will get a rash on her face. She goes through periods where she loses a significant amount of hair, and her hair grows much slower. She has sun sensitivity. She gets ulcers in her mouth at times. She has constant fatigue, and far less energy than a "normal" person. However, she always tests with a negative ANA, so doctors all rule out lupus. She gains water weight. In the span of a couple days, she can gain 30 pounds due to retained water. The more active she is, the more water she retains. To lose the water she always needs to take diuretics, and lie down for up to half a day. She has hidradenitis suppurativa. She has chronically low potassium and magnesium. This is made worse by using diuretics, but her levels are still clinically very low even when she stays off the diuretics for a while. Her and her mother have both been diagnosed with Gitelman's syndrome. No matter what medication she might need, she always seems to need a much higher dosage than "normal" for it to be effective. She has trouble digesting food, and will sometimes find whole, undigested pills in her stool. We currently seem to bounce around, from doctor to doctor, hoping to find someone that can actually help. Her pain issues are the toughest to get anyone to address. She started taking narcotics for pain about 9 years ago, and at this point requires levels that most doctors are not comfortable prescribing. Any ideas anyone might have on what might be the underlying condition or conditions causing the problem would be appreciated.
    TaylorDeelwithit 382 Replies
    • February 23, 2008
    • 10:15 PM
    • 0
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  • I was thinking porphyria also... another .... on hypothyroid and porphyria (check both out)especialy the porphyria with that rash from childhood on. and stills disease ulcers can happen with both as both conditions you can see slowed down GI motility at times including gastroparesis So if they have ruled out Systemic lupus erythematosus, then they must have ruled out Porphyria also?
    TaylorDeelwithit 382 Replies
    • February 23, 2008
    • 10:18 PM
    • 0
    Flag this Response
  • My wife has several conditions which affect her quality of life, make her unable to work, and affects her ability to do what she wants to do as a wife and mother. We believe she may have multiple diseases or conditions, and that they possibly are affecting each other. Her basic symptoms: She has pain, mainly in her joints. She started having pain when she was about 10 years old. She is now 29. Unmedicated the pain is great enough to keep her from being able to perform almost any task. The pain is most pronounced in her feet, knees, hips, and hands. She has had some doctors tell her she had arthritis, osteo and/or rheumatoid. She has had other doctors tell her she doesn't. She displays many symptoms of lupus. She has flares where her joints become even more painful. She will get a rash on her face. She goes through periods where she loses a significant amount of hair, and her hair grows much slower. She has sun sensitivity. She gets ulcers in her mouth at times. She has constant fatigue, and far less energy than a "normal" person. However, she always tests with a negative ANA, so doctors all rule out lupus. She gains water weight. In the span of a couple days, she can gain 30 pounds due to retained water. The more active she is, the more water she retains. To lose the water she always needs to take diuretics, and lie down for up to half a day. She has hidradenitis suppurativa. She has chronically low potassium and magnesium. This is made worse by using diuretics, but her levels are still clinically very low even when she stays off the diuretics for a while. Her and her mother have both been diagnosed with Gitelman's syndrome. No matter what medication she might need, she always seems to need a much higher dosage than "normal" for it to be effective. She has trouble digesting food, and will sometimes find whole, undigested pills in her stool. We currently seem to bounce around, from doctor to doctor, hoping to find someone that can actually help. Her pain issues are the toughest to get anyone to address. She started taking narcotics for pain about 9 years ago, and at this point requires levels that most doctors are not comfortable prescribing. Any ideas anyone might have on what might be the underlying condition or conditions causing the problem would be appreciated.Sounds alot like my symptoms. I have all of the above. Fibromyalsia(spelling is probably wrong). Tell her to read the book-from fatigued to fantastic like a bible. it has great info
    Anonymous 42789 Replies Flag this Response
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