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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Upper Abdominal Discomfort, Pressure Sensation In Diaphragm, Nauseated, Breathlessness, Acute Pancreatitis. What Is Wrong?

I am a 52-year-old woman, 155 pounds, 5 7 , and I have several health issues, but one that remains a mystery, and that is extremely uncomfortable, is the discomfort I have in my upper abdomen when I exert myself. This is a sensation of extreme pressure in the area of my diaphragm, like I am having the wind knocked out of me, and is most extreme when I am climbing stairs or doing anything that elevates my heart rate. I can no longer do aerobic activity because of it, and I would like to be able to work my body, but this condition won t allow it. This sensation occurs right in the middle, just underneath my ribs. It feels like my stomach has been replaced with a brick--it feels weighty. I also get mildly nauseated, and it doesn t matter if I have eaten or not. It happens on an empty stomach as much as it does on a full stomach. It feels as if I ve eaten a huge meal and can t catch my breath, even if I haven t. There is also pain that I would rate anywhere between a 3 and a 6. The pain can also extend to closer to where the pancreas is, and while I have had a few cases of acute pancreatitis in the past, my blood work has not shown to be positive for it since 1996. The other mysterious thing that nobody seems to have an answer to is that I wake up in the morning with a thin lower torso, but I put a few inches on in fluid throughout the day. This is not ascites - it is all in the tissue, under the skin, surrounding my abdomen and back. This has happened every single day for the last five years, and is also worse upon exertion. High temperature can bring it on and exacerbate it too. It s so frustrating, and I have been called a hypochondriac numerous times. I was even yelled at by an ER physician when I went in with extreme PACs and a combo of bradycardia & tachycardia that wouldn t abate - something that occurs a few times a year and that makes me have to go into the ER for i.v. Lopressor. These are the things I know for sure (and I ve been tested for many, many things). I have Fibromyalgia, Osteoporosis, Ptosis (which is worse first thing in the morning but usually goes away after time), and I sometimes get these little painful blisters on my upper abdomen, under breasts, on my knees and elbows. They are red and full of liquid and very painful. They last just one or two days, and then they are little painful scabs. They flare up fairly often - usually I get them once or twice a month. Cholesterol is 240 (I ve brought it down from 283 with diet change and fish oil). I have some connective tissue issues (hypermobility and possibly Ehlers Danlos, which my daughter was diagnosed with too) and possibly Sjogren s Syndrome (Schirmer test result is 0 and I get frequent salivary gland pain and swelling, very dry mouth, and several other symptoms) although ANA tests are negative. I had a spot removed from my chest which was positive for Lupus, however, a subsequent biopsy on normal skin from the same area was negative. I also have frequent inflammation of the medial epicondyle and it s quite painful, and painful swelling in other joints. Tests for inflammation are also negative but I was diagnosed with arthritis. I have, what a couple doctors have called Myotonia, but others dispute it. When I squeeze my hand tightly for several seconds, then relax, my fingers stay gripped. They will relax over time, or I can open them with my other hand. The doctor who diagnosed it was a primary care physician, and she observed my daughter and I both showing her, and she used the little hammer and tapped on the muscle near my thumb, which caused the thumb to cramp up. However, muscle testing was negative. I get a combination of PACs, bradycardia, and tachycardia, that leaves me unable to function because I have near-syncope when it happens. I have had three major episodes in the last twelve months or so that required ER trips and i.v. Lopressor to fix it. The first time it happened that extreme was in February of 2012 and I ve had three like that since. They don t know why it happens, but I ve had heart rhythm issues for years. An ablation didn t fix it. I have frequent flare-ups that leave me unable to perform daily tasks or work on a regular basis so I have had to go on disability, which I hate. I would like to have my life back. I would also like to find a doctor who can help me figure out this mystery, which has robbed me of so much time. I can t do the things I used to do and I am kind of afraid of the daily edema, which is uncomfortable in itself. I want to find a doctor who will not look at me like I m a freak who is making it all up. I m not. Here are some pictures of the edema in my torso. You can also see pictures of the Ptosis and blisters if you go up to the top and click on the heading. WWW.WWWW.WW
Sat, 16 Nov 2013
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Internal Medicine Specialist 's  Response
Hi ma'am,

Thanks for your query.

I have gone through your detailed query very thoroughly.

I am of the strong conviction that you are indeed suffering from MYOTONIC DYSTROPHY, since majority of your problems fit into this condition. I will try to solve most of your problems, if not all.

Firstly, the heaviness in the center of chest and upper abdomen with minimal exertions; swelling of the lower torso during the day, is STRONGLY suggestive of failing of the entire heart along with co-existing coronary artery disease. Investigations like 2-D Echo, stress TMT/Thallium test and coronary angiography will confirm my views. Medicines like digoxin, diuretics, low-dose alpha-beta blockers (such as carvedilol), coronary vasodilators in adequate doses and ACE inhibitors in titrated doses will certainly help you.

Further, the tachycardia-bradycardia syndrome (also called Sick Sinus Syndrome, which is part of the manifestations of Myotonic dystrophy) can be kept under control on anti-arrhythmic drug, such as, amiodarone and, ideally a dual chamber pacemaker.

Difficulty in opening fingers after sustained squeezing of fingers, as well as, transient ptosis (drooping of the eyelids), is also part of the symptoms of Myotonic Dystrophy. Perhaps, serum Potassium estimation should be periodically.

Since the disease primarily affects the muscles, the intestinal smooth muscles too tend to get involved, leading to bloating, constipation, poor digestion. Perhaps, pro-kinetic drugs, such as metoclopramide + omeprazole will be of some help.

For osteoporosis, adequate calcium + Vit D3 (1000mcg) daily intake will of significant benefit.

Lastly, may I inform you that it is a genetic disease and has NO TREATMENT. Only symptomatic treatment can be given to relieve different problems associated with the condition.

Consult your doctor and apprise him of my opinion/recommendations and treatment. I am certain that he will agree with my opinion and clinical acumen; order required tests, and- based on the reports- will prescribe suitable treatment as advised.

If you find my response helpful and informative, do not forget an “excellent” rating to my answer, to encourage all doctors- engaged in social service- to render sound advice to the FREE queries.

Fond regards and have a nice day,

Dr. Rakesh Karanwal
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Upper Abdominal Discomfort, Pressure Sensation In Diaphragm, Nauseated, Breathlessness, Acute Pancreatitis. What Is Wrong?

Hi ma am, Thanks for your query. I have gone through your detailed query very thoroughly. I am of the strong conviction that you are indeed suffering from MYOTONIC DYSTROPHY, since majority of your problems fit into this condition. I will try to solve most of your problems, if not all. Firstly, the heaviness in the center of chest and upper abdomen with minimal exertions; swelling of the lower torso during the day, is STRONGLY suggestive of failing of the entire heart along with co-existing coronary artery disease. Investigations like 2-D Echo, stress TMT/Thallium test and coronary angiography will confirm my views. Medicines like digoxin, diuretics, low-dose alpha-beta blockers (such as carvedilol), coronary vasodilators in adequate doses and ACE inhibitors in titrated doses will certainly help you. Further, the tachycardia-bradycardia syndrome (also called Sick Sinus Syndrome, which is part of the manifestations of Myotonic dystrophy) can be kept under control on anti-arrhythmic drug, such as, amiodarone and, ideally a dual chamber pacemaker. Difficulty in opening fingers after sustained squeezing of fingers, as well as, transient ptosis (drooping of the eyelids), is also part of the symptoms of Myotonic Dystrophy. Perhaps, serum Potassium estimation should be periodically. Since the disease primarily affects the muscles, the intestinal smooth muscles too tend to get involved, leading to bloating, constipation, poor digestion. Perhaps, pro-kinetic drugs, such as metoclopramide + omeprazole will be of some help. For osteoporosis, adequate calcium + Vit D3 (1000mcg) daily intake will of significant benefit. Lastly, may I inform you that it is a genetic disease and has NO TREATMENT. Only symptomatic treatment can be given to relieve different problems associated with the condition. Consult your doctor and apprise him of my opinion/recommendations and treatment. I am certain that he will agree with my opinion and clinical acumen; order required tests, and- based on the reports- will prescribe suitable treatment as advised. If you find my response helpful and informative, do not forget an “excellent” rating to my answer, to encourage all doctors- engaged in social service- to render sound advice to the FREE queries. Fond regards and have a nice day, Dr. Rakesh Karanwal