Desperate to know what these results mean

[L_avender]

Also -adult onset congenital adrenal hyperplasia is another differential diagnosis for PCOS. This can be tested for with a blood test. I assume the endocrinology teams your daughter has already seen will have ruled it out, but you can always double check by requesting the blood test results.

I was misdiagnosed with PCOS for many years.

Hi CantThink, the endocrinology team she has seen only did minor testing, see below. These are hospital test results (in Dutch sorry, but probably not hard to decipher and no reference values) from 2010 until 2013. I can't find their referencee values anywhere.

 

[L_avender]

Having seen three endocrinologists it would seem highly unlikely (to me) that there's a straightforward endocrinological issue that would have been missed by the practitioners that you have seen. Feel free to look into the testing the other posters have mentioned but I'd look for somewhere with a multi-disciplinary team (if there is one in the Netherlands, and you can afford it) if I were in your shoes.

As much as I would like to say that they have looked into everything, the thing is, I feel that they haven't. I was with her when she went to see them and - as all visits were in the same hopital group - they looked at her previous results, did not see anything alarming and did another set of tests, but not many as you can see from the list in one of my previous posts. While she was sitting there clearly looking very ill, and with symptoms that were clearly pointing at hormonal problems (hirsutism, no periods, hairloss amongst other things), they did not seem to feel the need to explore any further and just referred her to the gynaecologist, the same loop she made before, who presribed the contraceptive pill,which she did not want to take. Going round in circles. I have an idea why they don't take my daughter's problems serious actually. When she first went to hospital in 2006 or 2007 in connection with her PCOS, which at that stage had not been diagnosed, they discovered she was also in treatment for depression. From that moment on, they wanted to get rid of here very quickly. Work on your mental issues first, that might solve most of your physical problems was what one person told her when she went for a scan of her ovaries. That has upsetting her very much, because, this of course could also be a chicken or egg situation. Also they denied she had PCOS in 2006/2007, while, at her last hospital visit the endocrinoligst actually admitted that she probably did have PCOS back then as well looking at her results. After three years of no periods she was advised to take DCI (D-Chiro Inositol) by an alternative GP. She started taking this supplement and after a few months, her periods started again. It became clear to me that under the right circumstances and with the appropriate supplements, there can be positive changes.

Just to be clear, I am personally not against conventional medical treatment at all. My ideal picture would be if they would cooperate more with professionals who work in a less traditional way if and when necessary (I know, keep on dreaming). If I show her list of results from the labs to an endocrinologist or other specialist, (s)he might indeed think it was a waste of money and effort, and consider them useless. I myself am not in any way medically educated and can't judge who's right or wrong, I just know she needs help and whatever we try is not working which makes me think the true cause of her problems has not been found.

I feel that she might benefit from a multi-disciplinary team in a university hospital as they tend to do more research. But before we invest in more expensive tests, we will look into the many suggestions posted here and talk them over with her current specialist.

 

[L_avender]

I do not agree with dismissing these abnormal results you have shared as not ME related, but I do agree with repeating abnormal tests with a clinically validated test and accredited lab IF the results are indicative of disease and treatment requiring further investigation.

Thank you Research 1st, for your huge post with a lot of useful information. Repeating the test in a more conventional lab is exactly what I would like to do. I am going to study your post in detail. Thanks again!

 

[L_avender]

@Research 1st, thanks for taking the time to review all these tests

Exactly, thanks so much for that

 

[dan062]

@L_avender: I can only say that I'm going through the exact same thing as your daughter, although in a different country, and have to admit that I am somewhat jealous that you are such a zealous advocate on her behalf!

Many of us young enough to have living parents end up with them also believing that we are crazy and being openly antagonistic to the idea of us being sick, which just makes a bad situation worse. So even though her physical conditions sounds bad she is lucky to have you fighting on her side.

Reading your post above, I would still say that there is no harm in working on the 'mental issues' her doctor described. I also hate specialists playing amateur psychologist but I'm sure that we all have them with this -- the sheer stress of being sick and un-diagnosed is immense, as is the power of the mind body connection. Use it to your benefit while you search for the answer, as it could take a while.

Hope some of the suggestions other posters have made will be useful to you and that your daughter has success in obtaining a diagnosis -- and more importantly, some relief of her symptoms.

 

[L_avender]

The preliminary evidence of a mold infection (elevated Aspergillus antibodies) in a patient suggests possibility for the development for a serious lung disorder such as Pulmonary Aspergillosis that requires X-Ray. Add in other factors such as immune suppression or asthma and this could be fatal if left untreated.

Research 1st, she has serious stabbing pains in her chest area and sometimes trouble breathing, but this always starts when her tension rises, so we have not related this to Aspergillus as yet, more to a stress response. We certainly will look into the aspergillus aspect soon.

 

[Valentijn]

@L_avender - Getting any medical treatment in the Netherlands is very hard once the ME/CFS label has been applied. The Nijmegen "fatigue" clinicians/researchers take a strong psychosomatic stance regarding ME/CFS, and the government seems happy enough to follow along and spread it as gospel. Not treating us at all is the cheapest approach, and "think happy thoughts" therapy is also quite cheap. Much cheaper than real medical treatment.

I don't know if KDM in Brussels knows much about endocrinology, which seems to be an unusually prominent problem for your daughter. But there are other private endocrinologists in Belgium which are known for giving the middle finger to foreign governments, and investigating and treating problems more aggressively.

Regarding the university hospitals, I had fairly bad experiences with those. When trying to get my OI diagnosed, the cardiologist referred me to a neurologist who specializes in telling people with unexplained symptoms that they obviously aren't sick, and that investigating and treating their symptoms won't help them. My huisarts (GP) also tried to refer me to a well-known MS doctor who takes a multi-system (neurological, immune, etc) approach to MS, but they weren't interested in getting a patient with the ME/CFS label.

 

[Kati]

@L_avender your daughter is moderately anemic, which could cause shortness of breath and perhaps chest oain as well. A normal hemoglobin for a woman ranges from 12 to 16.

Hemoglobin transports oxygen from the lungs to the cells. Less hemoglobin= body has to work harder/faster to transport oxygen, through increased heart rate and increase respiratory rate.
While other conditions need to be ruled out, and perhaps your dr could check out ferritin, hemolytic anemia, etc... most anemias are due to diet, lack of iron stores. This can be corrected through supplementing. i myself take ferrous sulfate, one tablet a day, because I eat low amount of red meat in my diet and because i have heavy periods. Iron tablets causes constipation in the begining, which is a real drag. But if you stick with it for a few month, the body adjusts. i have been on iron pills for 2 decades now.

 

[L_avender]

If the labs are accurate, she has low free carnitine but high acylcarnitine. That is not a typical ME finding. Neither is it a primary carnitine deficiency sign. It is found typically in people with a fatty acid oxidation disorder. It is unwise to suggest treating with carnitine based simply on finding low carnitine without finding out what is actually wrong.

Thanks for your post Sea, it might have something to do with her vegetarian/vegan diet (roughly seven years), but I'm no expert. She isn't vegan / vegetarian anymore but only consumes small amounts of meat in the shape of bone broth and some fish and eggs. One of her supplements is Acetyl-L-Carnitine. She took this up to two weeks before the amino acid test (June 2014), and so it could have influenced the outcome. According to her doc it should be okay after two weeks omission. Her taurine levels also shot up from way below the minimum level required to way above. With minimal intake of taurine. I know the body produces taurine itself (liver?) but her 24-hour urine test, shows quite an excess of it, as if she were eating meat or drinking energy drinks all day long...

 

[L_avender]

I don't know if KDM in Brussels knows much about endocrinology, which seems to be an unusually prominent problem for your daughter. But there are other private endocrinologists in Belgium which are known for giving the middle finger to foreign governments, and investigating and treating problems more aggressively.

My daughter was treated by dr. Musarella in Zeist, also one of their diciples. He was the one who ordered all tests that were done early this year, all done in laboratories in Belgium and I suspect that they are also used by other physicians mentioned here. Musarella told me that he didn't think much of the Dutch labs and he preferred the ones in Belgium. Despite his extensive testing and treatment or maybe because of it, my daughter started to feel so awful, even more than before. Her current phycisian thinks the Cytozyme AD was making her extremely agitated. Cytozyme-AD is made from neonatal bovine adrenal that is processed from 1 to 3 day old calves (veal).

 

[L_avender]

Regarding the university hospitals, I had fairly bad experiences with those. When trying to get my OI diagnosed, the cardiologist referred me to a neurologist who specializes in telling people with unexplained symptoms that they obviously aren't sick, and that investigating and treating their symptoms won't help them. My huisarts (GP) also tried to refer me to a well-known MS doctor who takes a multi-system (neurological, immune, etc) approach to MS, but they weren't interested in getting a patient with the ME/CFS label.

That doesn;t sound very promising, I have to say! Sorry to hear this Valentijn.

 

[CFS_for_19_years]

@L_avender your daughter is moderately anemic, which could cause shortness of breath and perhaps chest oain as well. A normal hemoglobin for a woman ranges from 12 to 16.

This is a normal hemoglobin. What's throwing you off is the units of measure. In the US, hemoglobin is reported in gm/dl, not mmol/l. I didn't have to get out my calculator and do the math for this, as I could see that her hematocrit of 41%, is perfectly fine as are her erythrocyte (RBC) levels.

A good rule of thumb when estimating hematology values goes like this: RBC x 3 = hemoglobin; hemoglobin x 3 = hematocrit. Example: RBC's are 5. Multiply x 3, you'll get a hemoglobin of 15. Multiply the hemoglobin of 15 x 3 and you'll get a hematocrit of 45. This is only useful for the units of measurement used in the US. It won't work when hemoglobin is reported in mmol/l.

I'm a medical technologist who had to take an unplanned early retirement due to CFS/ME.

 

[Sea]

Thanks for your post Sea, it might have something to do with her vegetarian/vegan diet (roughly seven years), but I'm no expert. She isn't vegan / vegetarian anymore but only consumes small amounts of meat in the shape of bone broth and some fish and eggs. One of her supplements is Acetyl-L-Carnitine. She took this up to two weeks before the amino acid test (June 2014), and so it could have influenced the outcome. According to her doc it should be okay after two weeks omission. Her taurine levels also shot up from way below the minimum level required to way above. With minimal intake of taurine. I know the body produces taurine itself (liver?) but her 24-hour urine test, shows quite an excess of it, as if she were eating meat or drinking energy drinks all day long...

Diet (and supplements) may make a difference but I wouldn't rule it out without further testing. Acetyl-L-carnitine is not the same as Acylcarnitine and is unlikely to result in elevations in the Acylcarnitine profile. If anything it could contribute to a raised free carnitine but this value is low in your daughter's results. Other pointers to a problem with fatty acid oxidation and/or organic acid disorder are the elevations in the organic acid urine test. Nothing there is specific to a particular disorder but they are worth pursuing further.

What does the practicioner who ordered the tests say about the out of range results? If they don't know what to do with them you need someone else who does understand what they might point to and what tests to follow up with. Simply supplementing whatever is found to be low does not address causes and if that is all a doctor was wanting to do I would be looking for someone else.

Was the high Taurine result after she was supplementing with Taurine? If so it is probably just a reflection of that.

The B12 injections that she was getting, do you know what form the B12 was? Being vegetarian/vegan often results in a B12 deficiency, even worse if you have genetic or malabsorption issues. Some people with particular genetic variations cannot convert cyanocobalamin or hydroxycobalamin to the active forms the body needs so if those people have a deficiency they need to supplement with methylcobalamin.

 

[CantThink]

It does not appear that your daughter has been tested for Cushing's (beyond the one off cortisol measurements) or adult onset CAH.

From what I can tell without ranges - her ferritin looks on the lowish side (this can be a cause of or exacerbate hair loss - especially of she is shedding a lot of hair: telogen effluvium).

Her thyroid results - the free T4 looks on the lower side of normal, although it is difficult to tell as we don't know the ranges (just going by the usual ranges in the UK). Plus I noticed her TSH rose to 4.24. It would probably be worth keeping an eye on those levels and free T3 if you can get that tested also. Thyroid UK forum might be helpful (you don't have to be from the UK).

Regarding the treatment of PCOS - there are options for addressing it. An endocrinologist should be treating her PCOS, not a gynaecologist. Perhaps you can find a PCOS specialist?

 

[Helen]

Hi @L_avender,

I couldn´t see that anyone has commented the results from ferritine, TSH and vitamin B12 but apologize if I missed it.
I would ask for reference values for ferritine as 40 seems to be very low to me. Endocrinologists wanted me to have 70-100 with the reference ranges from the lab they used.

TSH (4.28 earlier) was high enough for getting treatmment if symptoms of hypothyroidism, but low at the latest test. T3 was a bit low in the test result on your first page. I think TSH, free T4 and free T3 should be checked again as they are basic tests for thyroid function. Maybe I missed current results from endocrinologists. KDM asks for these results.

Serum B12 = 242 is probably in reference range but is regarded as low among B12 specialists. Homocysteine and methylmalonic acid tests are reliable if positive, but not if negative (also according to B12 specialists).

If your daughter would have low iron, a low thyroid function and (most probable) have a B12 deficiency this could cause many of the serious symptoms you have described as they affect every organ in the body. I have been through this and studied testing and treatment and finally I found knowledgeable doctors that gave me optimal, and not only suboptimal, treatment so at least I can exclude these deficiencies. I wish you best of luck for your daughter.

 

[Kati]

This is a normal hemoglobin. What's throwing you off is the units of measure. In the US, hemoglobin is reported in gm/dl, not mmol/l. I didn't have to get out my calculator and do the math for this, as I could see that her hematocrit of 41%, is perfectly fine as are her erythrocyte (RBC) levels.

A good rule of thumb when estimating hematology values goes like this: RBC x 5 = hemoglobin; hemoglobin x 5 = hematocrit. Example: RBC's are 5. Multiply x 5, you'll get a hemoglobin of 15. Multiply the hemoglobin of 15 x 5 and you'll get a hematocrit of 45. This is only useful for the units of measurement used in the US. It won't work when hemoglobin is reported in mmol/l.

I'm a medical technologist who had to take an unplanned early retirement due to CFS/ME.

I shall stand corrected.

 

[CFS_for_19_years]

I shall stand corrected.

I later realized I used the wrong multiplier of 5 - it should have been 3! All I could think of was 5's because everything ends in a 5 Brain fog moment! I corrected my post so it now reads:

A good rule of thumb when estimating hematology values goes like this: RBC x 3 = hemoglobin; hemoglobin x 3 = hematocrit. Example: RBC's are 5. Multiply x 3, you'll get a hemoglobin of 15. Multiply the hemoglobin of 15 x 3 and you'll get a hematocrit of 45. This is only useful for the units of measurement used in the US. It won't work when hemoglobin is reported in mmol/l.

 

[L_avender]

Hi @L_avender,

I couldn´t see that anyone has commented the results from ferritine, TSH and vitamin B12 but apologize if I missed it.
I would ask for reference values for ferritine as 40 seems to be very low to me. Endocrinologists wanted me to have 70-100 with the reference ranges from the lab they used.

TSH (4.28 earlier) was high enough for getting treatmment if symptoms of hypothyroidism, but low at the latest test. T3 was a bit low in the test result on your first page. I think TSH, free T4 and free T3 should be checked again as they are basic tests for thyroid function. Maybe I missed current results from endocrinologists. KDM asks for these results.

Serum B12 = 242 is probably in reference range but is regarded as low among B12 specialists. Homocysteine and methylmalonic acid tests are reliable if positive, but not if negative (also according to B12 specialists).

If your daughter would have low iron, a low thyroid function and (most probable) have a B12 deficiency this could cause many of the serious symptoms you have described as they affect every organ in the body. I have been through this and studied testing and treatment and finally I found knowledgeable doctors that gave me optimal, and not only suboptimal, treatment so at least I can exclude these deficiencies. I wish you best of luck for your daughter.

Hi Helen,

Thank you so much for sharing this info.

In the last tests (Jun/Jul 2014) this was the outcome of the ferritine and iron (blood):
Ferritine 22 ------ ------ ng/ml 16 - 280 (so within the range but very low)
Iron 23.5 ------ ------ μmol/l 14.0 - 36.0 (normal)
Iron measured in 24 hr urine was:
Iron------ <5 ------ μg/24u <= 1200 (low)

ENDOCRINOLOGY IN URINE (the total picture)
T3 ------ 691 ------ pmol/24u 800 - 1800
T4 ------ 1937 ------ pmol/24u 1800 - 3000
T3 % average ref.value------ 53.2 ------ %
T4 % average ref.value------ 80.7 ------ %
T3/T4 ratio ------ 0.36 ------ ratio 0.63 - 1.00
Reverse T3 ------ 62 ------ pmol/24u 46 - 130
T3/RT3 ratio ------ 11.1 ------ ratio 10.0 - 20.0
TSH (u) ------ 19 ------ μU/24u 14 - 60
Cortisol (u) ------ 82 ------ nmol/24u 58 - 248
2-OH-Oestron (E1) ------ 4.5 ------ μg/24u 1.9 - 15.8
4-OH Oestron ------ 7.9 ------ μg/24u 4.4 - 18.7
16-OH-Oestron ------ 3.4 ------ μg/24u 1.7 - 5.8

Vitamine B12 >997 ------ ------ ng/l 540 - 2702 (blood)
Baring in mind that in the preceding six months she had B12 injections every week for 10 weeks and then every month. So this result might not give a true picture of her deficiency as I understand B12 suppletion in any shape of form stays in your body for quite some time.

I am glad you found a knowledgeable doctor. CanI ask you what you mean by: "optimal, and not only suboptimal, treatment"?

L_avender

 

[L_avender]

Was the high Taurine result after she was supplementing with Taurine? If so it is probably just a reflection of that.
The B12 injections that she was getting, do you know what form the B12 was? Being vegetarian/vegan often results in a B12 deficiency, even worse if you have genetic or malabsorption issues. Some people with particular genetic variations cannot convert cyanocobalamin or hydroxycobalamin to the active forms the body needs so if those people have a deficiency they need to supplement with methylcobalamin.

Yes her taurine result was after, but she only started just before the testing, so I was surprised to see such elevated levels in such a short period of time.

The B12 she injected was hydrocobamin 1000 mcg. (Oops! Is that the same as hydroxycobalamin??). The months following the injections she was on Vitakruid Vitamine B12 (methylcobalamin) 3000 mcg one tablet per day and now she has started Jarrow Formulas Methyl B12 (methylcobalamin) 5000 mcg one tablet per day.

Her doctor is looking into several things, like her malabsorption issues, her low cortisol and high P5P (act. B6) which seems to just be there and not do anything etc.

L_avender

 

[L_avender]

It does not appear that your daughter has been tested for Cushing's (beyond the one off cortisol measurements) or adult onset CAH.

When she last visited the endocrinologist last year, I asked him if she could be suffering from Cushing's. She has many symptoms although she misses a number of vital ones.

Just copied the list of common symptoms of the Mayo Clinic website:
Common signs and symptoms involve progressive obesity and skin changes, such as:

• Weight gain and fatty tissue deposits (yes but she doesn't move much and the weight gain has stopped and reversed due to dietary changes she made), particularly around the midsection yes and upper back (no) , in the face (moon face) no, and between the shoulders (buffalo hump) no
  
• Pink or purple stretch marks (striae) on the skin of the abdomen, thighs, breasts and arms yes but as far as I understand this could also be due to her vegan diet.
  
• Thinning, fragile skin that bruises easily no
  
• Slow healing of cuts, insect bites and infections no
  
• Acne no

Women with Cushing syndrome may experience:

• Thicker or more visible body and facial hair (hirsutism) yes
  
• Irregular or absent menstrual periods yes

Other signs and symptoms include:

• Fatigue yes
  
• Muscle weakness no
  
• Depression, anxiety and irritability yes
  
• Loss of emotional control yes
  
• Cognitive difficulties yes
  
• New or worsened high blood pressure no
  
• Glucose intolerance that may lead to diabetes not sure yet but looks that way
  
• Headache yes
  
• Bone loss, leading to fractures over time - don't know, one thing though, she used to have perfect teeth, now she told me she feels they're getting more sensitive. A visit to the dentist is coming up. But again, this we put down to her vegan diet as many long term vegans develop issues with their teeth/bones.

The trouble is that these symptoms are part of many disorders and not specifically to Cushin's

As for adult CAH the same applies, yes certain aspects she has, loss of hair, hirsutism and trouble with her monthly cycle as well, but masculin features such as deepening of voice or change in genitals growth ...she has one breast larger (about one or two cup sizes) than the other (I know.. nothing to do with genitals, but it just made me think...) One would be an A size and the other a C. This started when she developed breasts. But possibly totally unrelated. Just had did quick google search and can't find a connection. Not a lot on the reason why this happens, just that estrogen might be the cause.

L_avender