CFS Misdiagnosis Dr Mirza's tests detail
This is a more detailed explanation of why Dr Mirza methods explained in The myth of chronic fatigue syndrome by Shirwan A Mirza http://www.bmj.com/content/334/7605/1221.extract/reply and NICE and CDC miss the boat by Dr Shirwan A Mirza http://www.bmj.com/content/335/7617/446.extract/reply pick up so many misdiagnoses, with links to additional information
The first thing to note is that Doctor Mirza is an Endocrinologist, therefore a Specialist, which means that his patients are referred to him by family doctors, who for them to do this, must of taken their patients reasonably seriously, and done a reasonable amount of testing, which explains why he is not claiming to be finding a large amount of conditions like missed HIV, Hep C, liver, kidney diseases etc. Most GPs who bother to look can find these things. He is also just explaining the most common misdiagnoses, obviously there are other less common things that get misdiagnosed as CFS but the tests he explains will pick up the majority of the misdiagnosed!
One of the main reasons Dr Mirza is able to find a so much higher percentage of misdiagnosed people then the 40% found in this article http://www.rcpe.ac.uk/journal/issue/journal_40_4/newton.pdf is because he is using the new correct reference ranges for the likes of TSH (Thyroid) Glucose, Vitamin D and B12.These are not his opinions that the reference ranges are wrong, they are scientific facts, established by leading researchers, which are unfortunately being ignored by laboratories and the majority of doctors are completely unaware of it, It is the use of wrong reference ranges that is leading to so many people being told that their tests are fine, so it can only be CFS, when the reality is there tests when measured against the correct reference ranges show that they are very sick.
1 As an example he is saying that the reference range for TSH should be between 0.3 and 2.5 because researchers have found that when the original reference range of 0.5 to 5.0 was decided on, they had failed to exclude people with mild hypothyroidism which had lead to the reference range being seriously skewed. This has lead to a situation where people get tests results like TSH 3.7 the doctor says its under 5.0 so its fine; when the reality is the patient has a thyroid problem and is misdiagnosed.
These researchers have then worked out how many people are having their thyroid diseases missed, when the TSH level is set at 5.0 it is estimated that 13 million Americans have Hypothyroidism. If the reference range for TSH was reduced to 2.5 it is estimated that approximately between 23 and 28 million extra Americans would be diagnosed with hypothyroidism and that these people are not getting the medication they should. Info on this here http://thyroid.about.com/od/gettestedanddiagnosed/a/tshtestwars.htm
So whats been happening to all these millions of people? Their being misdiagnosed with CFS, or given some bogus Psychiatric diagnosis like depression etc, and put on psyc meds. Information on further testing that may need to be done to properly diagnose thyroid problems T3; T4 etc can be found here http://thyroid.about.com/od/gettestedanddiagnosed/a/testdiagnose.htm Dr Mirza explains more about treating thyroid problems in the article Unveiling the mysteries of the Thyroid found here http://www.bmj.com/content/337/bmj.a801.extract/reply#bmj_el_200193
2 The same situation is happening with Vitamin D, the old reference range that said that Vitamin D deficiency occurred at levels under 20ng/ml (50nmol/L) was established because at levels below this people were at risk of developing Rickets; this reference range has nothing to do with the levels needed for optimum health. Current research shows that people should have levels between 50ng/ml - 80ng/ml (125nmol/L - 200nmol/L) well over double the old range, so once again people are being tested and the diagnosis is being missed, and even when they fail the test under the old ranges they are only given enough treatment to get them above 20ng/ml so they arent given enough to be cured.
It is important to know that Vitamin D isnt a vitamin, its a Secosteriod Hormone, and a lack of it is a massive problem that can ultimately lead to death. It has so far been found to have over 200 roles in the body; you need it to absorb Phosphorus without it your ATP wont work! ATP is like little batteries inside every cell in your body definition of it here http://www.ihealthdirectory.com/adenosine-triphosphate/ without sufficient Vitamin D every cell in your body is not working properly!
Mild symptoms of vitamin D deficiency include insomnia, blurry vision, mouth and throat pain, drastic weight loss and mood swings. Vitamin D deficiency can also mess up your digestive system, leading to stomach problems such as constipation and diarrhea. Because of the chemical imbalance that it brings, people suffer from irritability and mood changes which might lead to depression over the long haul.
Other mild symptoms associated with low levels of vitamin D are fatigue, weak bones, feeling tired even after a long nights sleep, and muscle pain. You might feel painful throbbing of the limbs and experience gradual tooth decay. There is a lot of evidence linking it to being a cause of Depression and Mental illness.
If left untreated for a long period of time, these symptoms will graduate into something far more serious. Like osteoporosis and Rickets, News research is showing it to be a likely cause of numerous Cancers, Heart disease, Diabetes and auto immune diseases such as Lupus. Dr Mirza explains more about Vitamin D in his article Vitamin D deficiency found here http://www.bmj.com/content/336/7657/1318.extract/reply#bmj_el_198052
One of the most interesting thing that was discovered recently is researchers found that the T cells rely on vitamin D in order to activate and they would remain dormant, 'nave' to the possibility of threat if vitamin D is lacking in the blood. So no Vitamin D no immunity hence the likely cause of all the chronic EBV, CMV etc infections more info here http://www.sciencedaily.com/releases/2010/03/100307215534.htm more info on correct Vitamin D levels here http://www.thorne.com/altmedrev/.fulltext/13/1/6.pdf and here http://www.vitamindcouncil.org/health/deficiency/am-i-vitamin-d-deficient.shtml
Vitamin D deficiency is exceedingly common because of the tendency in the western world to work in side and to use sunscreen, even in Australia using the out of date reference ranges its estimated that half the population is deficient, and one fact that the majority of doctors have never got there head around, is that sick people tend to not be able to get outside in the sun, so their Vitamin D levels are guaranteed to drop into severe deficiency. Dr Mirza States that nearly 70% of fibromyalgia is actually misdiagnosed vitamin D deficiency, information about this here http://www.easy-immune-health.com/fibromyalgia-and-vitamin-d.html#axzz16q2gPmFV other diseases that get misdiagnosed as fibromyalgia can be found here http://www.wrongdiagnosis.com/f/fibromyalgia/misdiag.htm
3 Again with B12 the reference ranges are wrong in most labs, leading to people being misdiagnosed. B12 deficiency should be diagnosed if below 300pg/ml but most labs say 180, Like Vitamin D, B12 deficiency is not a minor illness it will ultimately lead to death, symptoms of B12 deficiency; Studies have shown that a deficiency of vitamin B12 can lead to abnormal neurologic and psychiatric symptoms. These symptoms may include: ataxia (shaky movements and unsteady gait), muscle weakness, spasticity, incontinence, hypotension (low blood pressure), vision problems, dementia, psychoses, and mood disturbances. Researchers report that these symptoms may occur when vitamin B12 levels are just slightly lower than normal and are considerably above the levels normally associated with anaemia.Other symptoms can be found here http://vitamins.lovetoknow.com/Vitamin_B12_Deficiency_Symptoms and here http://www.essortment.com/all/vitaminbdefi_rndj.htm info on reference range being wrong here http://webcache.googleusercontent.c...+b12+referance+range&cd=2&hl=en&ct=clnk&gl=nz
4 The situation with Glucose testing is that the recommendations for reference ranges have been to lower them to the levels that Doctor Mirza explains, this has started to happen over the last few years, but anyone who has them done needs to check that the new reference ranges are being used. And anyone who has had them done more than a few years ago will have to get their results checked against the new reference ranges because the correct diagnosis may of been missed, Another Vital point that Doctor Mirza makes is that the Fasting Glucose test is not sufficient to detect glucose intolerance and the 2 hour glucose tolerance test (OGTT) must be done, otherwise the diagnosis will be missed, unfortunately most people only get the given the fasting glucose test. The correct reference ranges can be found here http://www.networkreferencelab.org/nrl_content.aspx?id=3233 the symptoms of pre diabetes can be found here http://www.diabitieslife.com/diabetes/diabetes-care/type-1/causes-and-symptoms-of-pre-diabetes.htm
5 Although Dr Mirza doesnt state this in his articles the reference ranges used to check for Hemochromatosis are also wrong in a lot of labs. The range used for Transferrin saturation in a lot of labs can be as high as 55% the correct range is 44%, some labs range for Ferritin are around 400 it should be 150 otherwise the diagnosis can be missed. Correct information for diagnosing hemochromatosis can be found here http://www.ironoverload.org/Diagnosis.htm
Until 1996 hemochromatosis was considered to be an extremely rare fatal disease that mainly affected old men, even though it was known both how to test for, and treat it. In 1996 researchers discovered the genes that caused it and then tested large populations for these genes and discovered that it is the most common serious genetic illness in the world and effects about 1 in every 250 people and that millions of cases of it had been missed and lots of people had died needlessly.
You would think that this would of lead to a massive change in attitude and knowledge of it amongst the medical community, however most doctors including some of those that specialise in it still know very little about it. It is estimated that an average physician will see an unrecognized case of it every two weeks and yet they are unlikely to diagnose a single case in their career. It is believed that only 2% of the people in the world, who have it, have actually been diagnosed. To make matters worse most doctors even if they do suspect it, are under the false belief that ferritin levels have to be very high, , in a lot of people high ferritin is a very late sign, the most accurate test is transferring saturation which if this is high on two occasions, then it is 98% diagnostic of hemochromatosis a lot of doctors never test this, A lot of doctors also rely on genetic testing to diagnoses Hemochromatosis, but only two of the most common genes are tested for, there are another 40 genetic variations that dont get tested, it is estimated that 10 to 15% of the people who have hemochromatosis have the genetic variations that dont get tested for and the diagnosis gets missed! An Article about how it is easily misdiagnosed as CFS here http://www.haemochromatosis.org/chronic-fatigue-syndrome-fibromyalgia.html some more of the vast array of symptoms that it can cause in different people can be found here http://en.diagnosispro.com/disease_...manifestations-hemochromatosis/14667-104.html It can also cause Diabetes, Adrenal insufficiency, heart failure and liver failure, it is fatal if not treated.
6 The situation with Celiac Disease is that although there is no problem with reference ranges, there is however an average of a ten year delay in diagnosis simply because doctors dont think of it, even though it affects about one in every hundred Caucasians. The situation is further complicated by the fact that the blood test for it has a high false negative rate, a small bowel biopsy should be done by endoscopy if there is any doubt, but unfortunately this isnt done in a lot of cases and the diagnosis is missed. Dr Mirza explains Celiac disease in more detail in the article Celiac Disease The Great Imitator found here http://www.bmj.com/content/338/bmj.a3058.short/reply
Info on how to diagnose celiac here http://celiacdisease.about.com/od/diagnosingceliacdisease/a/celiacdiagnosis.htm Another complication is that even when diagnosed, because of the continual use of wrong reference ranges for Vitamin D and B12 the patients are not aggressively supplemented to cure the nutritional deficiencies caused by the celiac and can continue to suffer from these. Symptoms of celiac can be found here http://celiacdisease.about.com/od/symptomsofceliacdisease/a/celiacsymptoms.htm
7 Adrenal Insufficiency although it shouldnt, often presents a major diagnostic dilemma, caused by the fact that a lot of doctors knowledge on how to diagnose it is limited to say the least, the major problem is they dont know that cortisol readings within the normal range do not rule out Adrenal insufficiency. They will get tests results back with results saying something like Cortisol 15mcg/dl (reference range 9-25mcg/dl) and say the patient is fine when the reality is the patient may be dying. Here is what should be being done When adrenal insufficiency is suspected, blood for an AM cortisol level along with an ACTH level and an aldosterone level is drawn. With a normal range of 9-25, mcg/dl, blood cortisol levels higher than 19 generally rule out the possibility of adrenal insufficiency. Levels lower than 3 suggest adrenal insufficiency, and levels between 3-19 are indeterminate. In primary adrenal insufficiency, the blood ACTH level is high. A low cortisol with a high ACTH is sufficient to diagnose primary adrenal insufficiency; a low ACTH with a low cortisol level is seen in secondary adrenal insufficiency. Further tests can be used to differentiate pituitary from hypothalamic causes in secondary conditions.
Regardless of the cortisol level, if adrenal insufficiency is highly suspect, an ACTH stimulation test is performed. In this test the patient is given an injection containing cosyntropin, a synthetic form of ACTH. Cortisol levels are tested prior to administering the drug and at 30 and 60 minutes after the ACTH is given. In adrenal insufficiency the rise is blood cortisol levels is negligible. A longer version of the test can be used to determine if abnormal results are due to pituitary or adrenal disease. Full article here http://www.suite101.com/content/adrenalinsufficiency-a1543
8 Sleep Apnea is often missed for the simple reason that it often isnt even being considered as a possible diagnosis, how to diagnose Sleep Apnea can be found here http://www.nhlbi.nih.gov/health/dci/Diseases/SleepApnea/SleepApnea_Diagnosis.html Symptoms can be found here http://www.nhlbi.nih.gov/health/dci/Diseases/SleepApnea/SleepApnea_Signs.html An important thing that is often missed, is to find the underlying cause of the sleep Apnea there are many of them which if they are missed the patient will continue to be sick even when the sleep Apnea has been treated. Causes of Central Sleep Apnea can be found here http://en.diagnosispro.com/differential_diagnosis-for/sleep-apnea-central-type-causes/11648-154.html Causes of Obstructive sleep Apneia can be found here http://en.diagnosispro.com/differen...-apnea-obstructive-type-causes/11638-154.html A lot of these conditions are very serious and need to be diagnosed and treated if the patient is to get better.
9 Benign Paroxysmal Positional Vertigo is an imbalance of the inner ear that causes symptoms such as dizziness, vertigo, imbalance, nausea and nystagmus ( involuntary eye movements) information on it can be found here http://www.dizziness-and-balance.com/disorders/bppv/bppv.html please dont try things like the Epley manoeuvre used to treat it without first consulting with a doctor, just in case you have something else that doing this may make worse. Information on the Romberg test that Dr Mirza mentions for testing for it can be found here http://www.neuroexam.com/neuroexam/content.php?p=37 again make sure you get a doctor to do this, this test can also be useful for testing for true M.E but be aware failing it can indicate numerous conditions some of which can be found here http://www.wrongdiagnosis.com/p/parry_romberg_syndrome/book-diseases-2a.htm
It is important to note that a lot of people will have combinations of these illnesses as this review by one of Dr Mirzas patients shows http://www.insiderpages.com/doctors/Shirwan-A-Mirza-MD-Auburn , most people who have been sick for a long time with anything will also be Vitamin D deficient because of lack of sun exposure, People with celiac will also have B12, Vitamin D deficiencies, iron etc People with hemochromatosis may have Adrenal insufficiency and Diabetes because it can cause all these, People with hypothyroidism may also have B12 deficiency and Benign Paroxysmal Positional Vertigo etc, etc.
Added to this a lot of people are being prescribed a lot of medications that they dont need because the correct diagnosis has been missed e.g. sleep meds, pain meds, anti depressants etc all of which have side effects and interact with each other, they are also often taking large amounts of supplements which can have side effects, react with other medication and depending on what the true condition is may be extremely detrimental to their health. As an example of how bad some supplements can be, even Vitamin C which is almost universally considered harmless, if it is given for a long period of time to someone with undiagnosed hemochromatosis because vitamin C dramatically increases the absorption of iron it can knock decades of the life of someone with Hemochromatosis. So all these meds and supplements often worsen the patients health.
Because people with these kind of long term illnesses often have impaired immune systems they also get Chronic EBV, CMV,HHV6 infections etc, plus colds, flues pneumonias etc, end result of all this is very sick people! Plus the understandable depression, stress and anxiety symptoms that go with being so sick.
The effect of Vitamin D deficiency on the immune system has already been discussed, however most of the diseases mentioned in Dr Mirzas articles have been found to also profoundly affect the immune system and cause measurable NK cell dysfunction.
Here are some scientific articles on this
B12 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1905232/
Hemochromatosis http://www.ncbi.nlm.nih.gov/pubmed/11045759?dopt=Abstract
Adrenal insufficiency http://onlinelibrary.wiley.com/doi/10.1002/eji.200526128/abstract
Celiac http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1954856/
Sleep Apnea http://ajrccm.atsjournals.org/cgi/reprint/168/2/242.pdf
Thyroid diseases http://www.ncbi.nlm.nih.gov/pubmed/1581468
All the best
This is a more detailed explanation of why Dr Mirza methods explained in The myth of chronic fatigue syndrome by Shirwan A Mirza http://www.bmj.com/content/334/7605/1221.extract/reply and NICE and CDC miss the boat by Dr Shirwan A Mirza http://www.bmj.com/content/335/7617/446.extract/reply pick up so many misdiagnoses, with links to additional information
The first thing to note is that Doctor Mirza is an Endocrinologist, therefore a Specialist, which means that his patients are referred to him by family doctors, who for them to do this, must of taken their patients reasonably seriously, and done a reasonable amount of testing, which explains why he is not claiming to be finding a large amount of conditions like missed HIV, Hep C, liver, kidney diseases etc. Most GPs who bother to look can find these things. He is also just explaining the most common misdiagnoses, obviously there are other less common things that get misdiagnosed as CFS but the tests he explains will pick up the majority of the misdiagnosed!
One of the main reasons Dr Mirza is able to find a so much higher percentage of misdiagnosed people then the 40% found in this article http://www.rcpe.ac.uk/journal/issue/journal_40_4/newton.pdf is because he is using the new correct reference ranges for the likes of TSH (Thyroid) Glucose, Vitamin D and B12.These are not his opinions that the reference ranges are wrong, they are scientific facts, established by leading researchers, which are unfortunately being ignored by laboratories and the majority of doctors are completely unaware of it, It is the use of wrong reference ranges that is leading to so many people being told that their tests are fine, so it can only be CFS, when the reality is there tests when measured against the correct reference ranges show that they are very sick.
1 As an example he is saying that the reference range for TSH should be between 0.3 and 2.5 because researchers have found that when the original reference range of 0.5 to 5.0 was decided on, they had failed to exclude people with mild hypothyroidism which had lead to the reference range being seriously skewed. This has lead to a situation where people get tests results like TSH 3.7 the doctor says its under 5.0 so its fine; when the reality is the patient has a thyroid problem and is misdiagnosed.
These researchers have then worked out how many people are having their thyroid diseases missed, when the TSH level is set at 5.0 it is estimated that 13 million Americans have Hypothyroidism. If the reference range for TSH was reduced to 2.5 it is estimated that approximately between 23 and 28 million extra Americans would be diagnosed with hypothyroidism and that these people are not getting the medication they should. Info on this here http://thyroid.about.com/od/gettestedanddiagnosed/a/tshtestwars.htm
So whats been happening to all these millions of people? Their being misdiagnosed with CFS, or given some bogus Psychiatric diagnosis like depression etc, and put on psyc meds. Information on further testing that may need to be done to properly diagnose thyroid problems T3; T4 etc can be found here http://thyroid.about.com/od/gettestedanddiagnosed/a/testdiagnose.htm Dr Mirza explains more about treating thyroid problems in the article Unveiling the mysteries of the Thyroid found here http://www.bmj.com/content/337/bmj.a801.extract/reply#bmj_el_200193
2 The same situation is happening with Vitamin D, the old reference range that said that Vitamin D deficiency occurred at levels under 20ng/ml (50nmol/L) was established because at levels below this people were at risk of developing Rickets; this reference range has nothing to do with the levels needed for optimum health. Current research shows that people should have levels between 50ng/ml - 80ng/ml (125nmol/L - 200nmol/L) well over double the old range, so once again people are being tested and the diagnosis is being missed, and even when they fail the test under the old ranges they are only given enough treatment to get them above 20ng/ml so they arent given enough to be cured.
It is important to know that Vitamin D isnt a vitamin, its a Secosteriod Hormone, and a lack of it is a massive problem that can ultimately lead to death. It has so far been found to have over 200 roles in the body; you need it to absorb Phosphorus without it your ATP wont work! ATP is like little batteries inside every cell in your body definition of it here http://www.ihealthdirectory.com/adenosine-triphosphate/ without sufficient Vitamin D every cell in your body is not working properly!
Mild symptoms of vitamin D deficiency include insomnia, blurry vision, mouth and throat pain, drastic weight loss and mood swings. Vitamin D deficiency can also mess up your digestive system, leading to stomach problems such as constipation and diarrhea. Because of the chemical imbalance that it brings, people suffer from irritability and mood changes which might lead to depression over the long haul.
Other mild symptoms associated with low levels of vitamin D are fatigue, weak bones, feeling tired even after a long nights sleep, and muscle pain. You might feel painful throbbing of the limbs and experience gradual tooth decay. There is a lot of evidence linking it to being a cause of Depression and Mental illness.
If left untreated for a long period of time, these symptoms will graduate into something far more serious. Like osteoporosis and Rickets, News research is showing it to be a likely cause of numerous Cancers, Heart disease, Diabetes and auto immune diseases such as Lupus. Dr Mirza explains more about Vitamin D in his article Vitamin D deficiency found here http://www.bmj.com/content/336/7657/1318.extract/reply#bmj_el_198052
One of the most interesting thing that was discovered recently is researchers found that the T cells rely on vitamin D in order to activate and they would remain dormant, 'nave' to the possibility of threat if vitamin D is lacking in the blood. So no Vitamin D no immunity hence the likely cause of all the chronic EBV, CMV etc infections more info here http://www.sciencedaily.com/releases/2010/03/100307215534.htm more info on correct Vitamin D levels here http://www.thorne.com/altmedrev/.fulltext/13/1/6.pdf and here http://www.vitamindcouncil.org/health/deficiency/am-i-vitamin-d-deficient.shtml
Vitamin D deficiency is exceedingly common because of the tendency in the western world to work in side and to use sunscreen, even in Australia using the out of date reference ranges its estimated that half the population is deficient, and one fact that the majority of doctors have never got there head around, is that sick people tend to not be able to get outside in the sun, so their Vitamin D levels are guaranteed to drop into severe deficiency. Dr Mirza States that nearly 70% of fibromyalgia is actually misdiagnosed vitamin D deficiency, information about this here http://www.easy-immune-health.com/fibromyalgia-and-vitamin-d.html#axzz16q2gPmFV other diseases that get misdiagnosed as fibromyalgia can be found here http://www.wrongdiagnosis.com/f/fibromyalgia/misdiag.htm
3 Again with B12 the reference ranges are wrong in most labs, leading to people being misdiagnosed. B12 deficiency should be diagnosed if below 300pg/ml but most labs say 180, Like Vitamin D, B12 deficiency is not a minor illness it will ultimately lead to death, symptoms of B12 deficiency; Studies have shown that a deficiency of vitamin B12 can lead to abnormal neurologic and psychiatric symptoms. These symptoms may include: ataxia (shaky movements and unsteady gait), muscle weakness, spasticity, incontinence, hypotension (low blood pressure), vision problems, dementia, psychoses, and mood disturbances. Researchers report that these symptoms may occur when vitamin B12 levels are just slightly lower than normal and are considerably above the levels normally associated with anaemia.Other symptoms can be found here http://vitamins.lovetoknow.com/Vitamin_B12_Deficiency_Symptoms and here http://www.essortment.com/all/vitaminbdefi_rndj.htm info on reference range being wrong here http://webcache.googleusercontent.c...+b12+referance+range&cd=2&hl=en&ct=clnk&gl=nz
4 The situation with Glucose testing is that the recommendations for reference ranges have been to lower them to the levels that Doctor Mirza explains, this has started to happen over the last few years, but anyone who has them done needs to check that the new reference ranges are being used. And anyone who has had them done more than a few years ago will have to get their results checked against the new reference ranges because the correct diagnosis may of been missed, Another Vital point that Doctor Mirza makes is that the Fasting Glucose test is not sufficient to detect glucose intolerance and the 2 hour glucose tolerance test (OGTT) must be done, otherwise the diagnosis will be missed, unfortunately most people only get the given the fasting glucose test. The correct reference ranges can be found here http://www.networkreferencelab.org/nrl_content.aspx?id=3233 the symptoms of pre diabetes can be found here http://www.diabitieslife.com/diabetes/diabetes-care/type-1/causes-and-symptoms-of-pre-diabetes.htm
5 Although Dr Mirza doesnt state this in his articles the reference ranges used to check for Hemochromatosis are also wrong in a lot of labs. The range used for Transferrin saturation in a lot of labs can be as high as 55% the correct range is 44%, some labs range for Ferritin are around 400 it should be 150 otherwise the diagnosis can be missed. Correct information for diagnosing hemochromatosis can be found here http://www.ironoverload.org/Diagnosis.htm
Until 1996 hemochromatosis was considered to be an extremely rare fatal disease that mainly affected old men, even though it was known both how to test for, and treat it. In 1996 researchers discovered the genes that caused it and then tested large populations for these genes and discovered that it is the most common serious genetic illness in the world and effects about 1 in every 250 people and that millions of cases of it had been missed and lots of people had died needlessly.
You would think that this would of lead to a massive change in attitude and knowledge of it amongst the medical community, however most doctors including some of those that specialise in it still know very little about it. It is estimated that an average physician will see an unrecognized case of it every two weeks and yet they are unlikely to diagnose a single case in their career. It is believed that only 2% of the people in the world, who have it, have actually been diagnosed. To make matters worse most doctors even if they do suspect it, are under the false belief that ferritin levels have to be very high, , in a lot of people high ferritin is a very late sign, the most accurate test is transferring saturation which if this is high on two occasions, then it is 98% diagnostic of hemochromatosis a lot of doctors never test this, A lot of doctors also rely on genetic testing to diagnoses Hemochromatosis, but only two of the most common genes are tested for, there are another 40 genetic variations that dont get tested, it is estimated that 10 to 15% of the people who have hemochromatosis have the genetic variations that dont get tested for and the diagnosis gets missed! An Article about how it is easily misdiagnosed as CFS here http://www.haemochromatosis.org/chronic-fatigue-syndrome-fibromyalgia.html some more of the vast array of symptoms that it can cause in different people can be found here http://en.diagnosispro.com/disease_...manifestations-hemochromatosis/14667-104.html It can also cause Diabetes, Adrenal insufficiency, heart failure and liver failure, it is fatal if not treated.
6 The situation with Celiac Disease is that although there is no problem with reference ranges, there is however an average of a ten year delay in diagnosis simply because doctors dont think of it, even though it affects about one in every hundred Caucasians. The situation is further complicated by the fact that the blood test for it has a high false negative rate, a small bowel biopsy should be done by endoscopy if there is any doubt, but unfortunately this isnt done in a lot of cases and the diagnosis is missed. Dr Mirza explains Celiac disease in more detail in the article Celiac Disease The Great Imitator found here http://www.bmj.com/content/338/bmj.a3058.short/reply
Info on how to diagnose celiac here http://celiacdisease.about.com/od/diagnosingceliacdisease/a/celiacdiagnosis.htm Another complication is that even when diagnosed, because of the continual use of wrong reference ranges for Vitamin D and B12 the patients are not aggressively supplemented to cure the nutritional deficiencies caused by the celiac and can continue to suffer from these. Symptoms of celiac can be found here http://celiacdisease.about.com/od/symptomsofceliacdisease/a/celiacsymptoms.htm
7 Adrenal Insufficiency although it shouldnt, often presents a major diagnostic dilemma, caused by the fact that a lot of doctors knowledge on how to diagnose it is limited to say the least, the major problem is they dont know that cortisol readings within the normal range do not rule out Adrenal insufficiency. They will get tests results back with results saying something like Cortisol 15mcg/dl (reference range 9-25mcg/dl) and say the patient is fine when the reality is the patient may be dying. Here is what should be being done When adrenal insufficiency is suspected, blood for an AM cortisol level along with an ACTH level and an aldosterone level is drawn. With a normal range of 9-25, mcg/dl, blood cortisol levels higher than 19 generally rule out the possibility of adrenal insufficiency. Levels lower than 3 suggest adrenal insufficiency, and levels between 3-19 are indeterminate. In primary adrenal insufficiency, the blood ACTH level is high. A low cortisol with a high ACTH is sufficient to diagnose primary adrenal insufficiency; a low ACTH with a low cortisol level is seen in secondary adrenal insufficiency. Further tests can be used to differentiate pituitary from hypothalamic causes in secondary conditions.
Regardless of the cortisol level, if adrenal insufficiency is highly suspect, an ACTH stimulation test is performed. In this test the patient is given an injection containing cosyntropin, a synthetic form of ACTH. Cortisol levels are tested prior to administering the drug and at 30 and 60 minutes after the ACTH is given. In adrenal insufficiency the rise is blood cortisol levels is negligible. A longer version of the test can be used to determine if abnormal results are due to pituitary or adrenal disease. Full article here http://www.suite101.com/content/adrenalinsufficiency-a1543
8 Sleep Apnea is often missed for the simple reason that it often isnt even being considered as a possible diagnosis, how to diagnose Sleep Apnea can be found here http://www.nhlbi.nih.gov/health/dci/Diseases/SleepApnea/SleepApnea_Diagnosis.html Symptoms can be found here http://www.nhlbi.nih.gov/health/dci/Diseases/SleepApnea/SleepApnea_Signs.html An important thing that is often missed, is to find the underlying cause of the sleep Apnea there are many of them which if they are missed the patient will continue to be sick even when the sleep Apnea has been treated. Causes of Central Sleep Apnea can be found here http://en.diagnosispro.com/differential_diagnosis-for/sleep-apnea-central-type-causes/11648-154.html Causes of Obstructive sleep Apneia can be found here http://en.diagnosispro.com/differen...-apnea-obstructive-type-causes/11638-154.html A lot of these conditions are very serious and need to be diagnosed and treated if the patient is to get better.
9 Benign Paroxysmal Positional Vertigo is an imbalance of the inner ear that causes symptoms such as dizziness, vertigo, imbalance, nausea and nystagmus ( involuntary eye movements) information on it can be found here http://www.dizziness-and-balance.com/disorders/bppv/bppv.html please dont try things like the Epley manoeuvre used to treat it without first consulting with a doctor, just in case you have something else that doing this may make worse. Information on the Romberg test that Dr Mirza mentions for testing for it can be found here http://www.neuroexam.com/neuroexam/content.php?p=37 again make sure you get a doctor to do this, this test can also be useful for testing for true M.E but be aware failing it can indicate numerous conditions some of which can be found here http://www.wrongdiagnosis.com/p/parry_romberg_syndrome/book-diseases-2a.htm
It is important to note that a lot of people will have combinations of these illnesses as this review by one of Dr Mirzas patients shows http://www.insiderpages.com/doctors/Shirwan-A-Mirza-MD-Auburn , most people who have been sick for a long time with anything will also be Vitamin D deficient because of lack of sun exposure, People with celiac will also have B12, Vitamin D deficiencies, iron etc People with hemochromatosis may have Adrenal insufficiency and Diabetes because it can cause all these, People with hypothyroidism may also have B12 deficiency and Benign Paroxysmal Positional Vertigo etc, etc.
Added to this a lot of people are being prescribed a lot of medications that they dont need because the correct diagnosis has been missed e.g. sleep meds, pain meds, anti depressants etc all of which have side effects and interact with each other, they are also often taking large amounts of supplements which can have side effects, react with other medication and depending on what the true condition is may be extremely detrimental to their health. As an example of how bad some supplements can be, even Vitamin C which is almost universally considered harmless, if it is given for a long period of time to someone with undiagnosed hemochromatosis because vitamin C dramatically increases the absorption of iron it can knock decades of the life of someone with Hemochromatosis. So all these meds and supplements often worsen the patients health.
Because people with these kind of long term illnesses often have impaired immune systems they also get Chronic EBV, CMV,HHV6 infections etc, plus colds, flues pneumonias etc, end result of all this is very sick people! Plus the understandable depression, stress and anxiety symptoms that go with being so sick.
The effect of Vitamin D deficiency on the immune system has already been discussed, however most of the diseases mentioned in Dr Mirzas articles have been found to also profoundly affect the immune system and cause measurable NK cell dysfunction.
Here are some scientific articles on this
B12 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1905232/
Hemochromatosis http://www.ncbi.nlm.nih.gov/pubmed/11045759?dopt=Abstract
Adrenal insufficiency http://onlinelibrary.wiley.com/doi/10.1002/eji.200526128/abstract
Celiac http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1954856/
Sleep Apnea http://ajrccm.atsjournals.org/cgi/reprint/168/2/242.pdf
Thyroid diseases http://www.ncbi.nlm.nih.gov/pubmed/1581468
All the best
