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Dr. Andrew Rynne

Family Physician

Exp 50 years

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Diagnosed with Upper Airway Resistance Syndrome. Undergoing Continuous positive airway pressure. Suggest

Answered by
Dr. Luchuo Engelbert Bain

General & Family Physician

Practicing since :2009

Answered : 3094 Questions

Posted on Wed, 27 Nov 2013 in Medicines and Side Effects
Question: I've been in the NHS system (UK) for 3 or so years and the doctors have literally run out of ideas. I'm looking for outlandish ideas, clues or hints that pop into people's heads. Good luck. Male, 21, health was perfect until ~13, was an elite athlete. First noticed a decrease in exercise tolerance around 13, if I hit a certain threshold of exercise my heart rate would just sit at 180/200 at not come down for ages. Accompanied with breathlessness. Cardio was the only symptom until 19 when I picked up pneumonia for a month. I was extremely ill and living on my own was too ill to even get help. Lasted about a month, no treatment. After that everything else described below started one after another. Most crippling thing is overbearing, extreme exhaustion. Randomly lets up a few hours a week with no pattern. Cardio: * Threshold decreased from ages 13-20 until *anything* would cause a rapid heart rate and breathlessness. * Holtier monitors show no arythmia, ECG clear, exercise tests confirm symptomns. * Treated with ivabradine 5mg 2xdaily, is a tradeoff with exhaustion. * Working diagnosis is sinus tach, awaiting EPS study to see if there is an 'easy' fix. Neurology: * Almost permanent migraine, rear left * Can't find any trigger other than being awake * Ineloquence/forgetting words. “Mental cloudiness” * ANS functions done, ice water, tilt table and 3 min grip passed * Brain MRI done: "Few very small non-specific white dots in the brain substance" * Neurologist dismissive Sleep: * Diagnosed with UARS, although CPAP suggests central SA * Undergoing CPAP * CPAP suggests central sleep apnoea * AHI varies periodically in weeks between 0-1 and 2-3. Short periods between sleep cycles removed. * Breathing stops for 16-30 seconds, no restriction of flow or leakage * Sleep clinic has a 9 month waiting list for next appointments, can't rely on anything from them Eyes: * Very strong photophobia * Constant 'white noise', like interference on an old tv * Physiology of eyes fine, all tests passed * Light sensitivity and white noise varies dramatically * Maximum focal distance shifts inwards at random. Sometimes can't focus after 5m, sometimes 20m, 50m, other days 'infinite' * Awaiting neuro-opthalmology Digestive: * Developed long term IBS from 18-21. Seems to be clear now though. * Stomach emptying/transit would just STOP, no particular trigger. * Keep developing antibodies to milk, yeast and wheat even after 6-12 month exlusion diets (IgE). * Very transient, comes and goes as it pleases. * Permanent anal fissures. Diet is excellent, topical solutions have no effect. Botox injections little effect, nothing can overcome the XXXXXXX sphinter spasm. But then randomly it relaxes itself for a few days. * "Don't know" Bladder: * Detrusor over activity (overactive bladder) * VERY overactive during some periods, no apparent trigger. * Up to 20x a day inc 4x at night. Other weeks almost normal!!! * Unresponsive to previously effective detrusol XL 4mg mr * Currently mirabegron 50mg daily mr helps a bit * IVABRADINE HELPS SYMPTOMS?? * "Don't know" Rhumatology: * Calcium deposit in wrist, other deposits in soft tissue * Other 'soft lumps' on trunk and neck. One excised and described as a lipoma * Small joins very stiff, require a lot of mechanical force * Constant ache/pain in fingers, getting worse * No inflammation in blood tests * Awaiting rhumatology None of my symptoms fit the text books or what anyone has seen so far. Take 3 minutes if you can to share my case with a colleague, my life is on hold. I'm an award winning entrepreneur and engineer - who can barely keep ahead of housework.
Answered by Dr. Luchuo Engelbert Bain 1 hour later
Brief Answer: Complete clinical review, CT scan, X rays, ultraso Detailed Answer: Hi and thanks for the query, I ma afraid your condition might require a careful collaboration between various specialties or doctors within the same specialties. Reading from your description of the symptoms and reports, I would love to share my own opinion and that of a colleague. Your cardiac history requires a formal exclusion of the fact that you had not experience a silent myocardial infarction, which of course is seen in patients with diabetes. A cardiac ultrasound to ascertain cardiac function, from another specialized center could be very helpful. Cardiac ultrasound is actually an operator dependent examination. The symptoms at the level of the brain (forgetfulness, photophobia) deserve that a mass occupying lesion of the brain be evaluated for and excluded. Funny headaches associated with above cited symptoms are classically seen in increased cranial pressure. A CT scan of the brain deserves then to be done. The symptoms described presume all symptoms being touched. An evaluation from a systemic disease perspective should be taken in this case. Pain, fatigue and general malaise, accompanied by Calcium deposits is suggestive of sarcoidosis, a systemic disease. Other systemic diseases like vasculitis, lupus and wide spread symptoms of some viral diseases like HIV need to be screened for carefully. Doing an erythrocyte sedimentation rate to ascertain the degree of chronic inflammation, a complete blood count, Rheumatoid factor to screen for rheumatoid arthritis and HLA27 to screen for mixed connective tissue diseases could be helpful at this stage. I understand you might had the opportunity to do an ultrasound and a chest X XXXXXXX before. However, it might important to get another chest X XXXXXXX and abdominal ultrasound done. It might be needed to do an active search of a possible tumoral process too. Some tumors do secrete substances that could lead to diverse symptoms. I do suggest that the opinion of your neurologist would be helpful, but an internist and his team would be well suited in the evaluation and diagnostic process. thanks and kind regards as I wish you the best of health. Please, feel free asking further information in case of need. I would be most grateful making my modest contribution to your well being. Kind regards Dr Bain
Above answer was peer-reviewed by : Dr. Shanthi.E
Follow up: Dr. Luchuo Engelbert Bain 8 hours later
Dear Dr Bain, Thanks for your quick reply. 1) I would very much doubt I've had a heart attack as I've been seen by my cardiologists around 10x over the last 3 years and had numerous snapshot and extended ECGs - all of which are clear. 2) It also seems unlikely that I could have raised (even temporary) ICP as the brain MRI was clear of this. Surely this is something that would show up? 3) I don't think sarcoidosis fits with my symptoms. My breathlessness seems to be lead by heart rate and I do not have a cough or generic lung pain. I do not have any visible leisons on the skin. 4) Its the same with the auto immune conditions. ESR was last 2mm/hr (2-15 U), blood counts are normal with white blood count 4.1 x10^9/L (4.0-11.0 U). Lupus sort of fits and it wouldn't hurt to test anti-nuclear and anti-DNA antibodies. 5) Rheumatoid arthritis was 'negative' [I can't remember what that corresponds to in numbers]. 6) HLA27 screening may be useful, although does this testing have another name? I can't find resources on it so wouldn't know what to request. 7) I've had a chest xray 5 years ago but they were just looking to see if my lungs were clear. If there was a growth, back then it would have been miniscule anyway. I've never had any form of imaging in the abdomen apart from a sigmoidoscopy. Both of these seem like a good idea, and it does seem to fit the pattern of 'randomness' that a tumor could create. 8) I may seek the second opinion of a neurologist regarding my brain MRI, but have requested the raw files in the mean time. 9) I don't think they're referred to as internists, or even that 'general specialists' exist at all in the NHS in the UK. I'm not sure who I would be referred to, but it does seem a good idea to have a generalised team lead the investigations. This has been part of my problem so far, none of the specialists are working together and its no one's job to look for conditions spanning multiple specialities. I will let you know of any developments, however its likely the question will automatically close before this. Kind Regards, XXXXX
Answered by Dr. Luchuo Engelbert Bain 20 hours later
Brief Answer: You are right Detailed Answer: Hi and thanks so much for your update and additional information. I do understand how difficult it might be, in case internists are not in the NHS. However, with your deep sense and mastery of your condition, I do think it s a good idea to see your neurologist, and do not hesitate asking or making / proposing specific issues. I would be very glad if you could keep me updated on the updates of the consultation with your neurologist. I do think there are moments where pathologies, especially when systemic, would not present with all classical does happens at times that test treatment is given under strict supervision of the treating physician.. I do think there I would be glad offering my humble ideas that could be of help. It is more than well come on my part to answer any follow up questions or concerns if any. Kind regards as I wish you the best of health. Dr Bain
Above answer was peer-reviewed by : Dr. Vaishalee Punj

The User accepted the expert's answer

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