What Are The Symptoms Of Connective Tissue Disorder?
Question: Hello,
I have a complex medical history and no doctor to date (despite me spending $160,000) has worked it out.
In your speciality I have had Echo, Bubble Studies, Stress tests etc, I am low on 02 and have constant systemic inflammation, I have squamous metaplasia in airways and I have blood coming up on the pillow in the mornings - I have constant chest pain that never abates and it feels like I have fluid surrounding my heart, I did have Echo's done which were not totally clear due to a prominant fat pad, I do get high cholesterol, but not all the time, I exercise frequently and I eat well and am not a heavy drinker - I was told there is some regurgitation from the heart and some schladerma or something of a valve - but I NEVER feel short of breath when exercising, it is the EXACT opposite - I feel short of breath and saturations drop when at REST - my PO2 on ABG's is horrible - to the point where they start to doubt it was even arterial samples, but it has been repeated and proven to be arterial blood - I have possible Primary Immune Deficiency and I take IVIG therapy - My normal O2 sats are now down to 92 and I have had a positive shunt study done, but no CT's show any shunt, I have a huge build up of Uric acid which is not able to be controlled and does NOT relate to diet - I have had bubble studies and tilt tests done and all of these are ok.... An overnight ECG shows abnormally low pulse strength while sleeping and changes in rate that do not support rem sleep - I have had positve D/Dimer tests (many) and high Plasma Fibrinogen but always in the setting of Inflammation - I really dont know what to test next, I have spent $160,000 over 8-10 years and I still get the blood, with nothing found on bronch's other than the metaplasia - can you suggest anything at all?
I have a complex medical history and no doctor to date (despite me spending $160,000) has worked it out.
In your speciality I have had Echo, Bubble Studies, Stress tests etc, I am low on 02 and have constant systemic inflammation, I have squamous metaplasia in airways and I have blood coming up on the pillow in the mornings - I have constant chest pain that never abates and it feels like I have fluid surrounding my heart, I did have Echo's done which were not totally clear due to a prominant fat pad, I do get high cholesterol, but not all the time, I exercise frequently and I eat well and am not a heavy drinker - I was told there is some regurgitation from the heart and some schladerma or something of a valve - but I NEVER feel short of breath when exercising, it is the EXACT opposite - I feel short of breath and saturations drop when at REST - my PO2 on ABG's is horrible - to the point where they start to doubt it was even arterial samples, but it has been repeated and proven to be arterial blood - I have possible Primary Immune Deficiency and I take IVIG therapy - My normal O2 sats are now down to 92 and I have had a positive shunt study done, but no CT's show any shunt, I have a huge build up of Uric acid which is not able to be controlled and does NOT relate to diet - I have had bubble studies and tilt tests done and all of these are ok.... An overnight ECG shows abnormally low pulse strength while sleeping and changes in rate that do not support rem sleep - I have had positve D/Dimer tests (many) and high Plasma Fibrinogen but always in the setting of Inflammation - I really dont know what to test next, I have spent $160,000 over 8-10 years and I still get the blood, with nothing found on bronch's other than the metaplasia - can you suggest anything at all?
Brief Answer:
Most probably you have connective tissue disorder.
Detailed Answer:
The history given by you suggests some form of connective tissue disorder with hyper-coagulable state and recurrent micro-pulmonary embolism with or without some Interstitial Lung Disease.
I need some more information regarding your reports if done earlier kindly upload the reports.
Blood tests: ESR, PT/INR, ANA, dsDNA, C-ANCA, P-ANCA
HRCT -Thorax. I
Symptoms like joint pain, stiffness, recurrent red eyes etc.
Have you been prescribed oral anticoagulation ever?
I may revert back to you after you provide me these inputs.
Cheer-up and take care of yourself well..
- Dr. Satish
Most probably you have connective tissue disorder.
Detailed Answer:
The history given by you suggests some form of connective tissue disorder with hyper-coagulable state and recurrent micro-pulmonary embolism with or without some Interstitial Lung Disease.
I need some more information regarding your reports if done earlier kindly upload the reports.
Blood tests: ESR, PT/INR, ANA, dsDNA, C-ANCA, P-ANCA
HRCT -Thorax. I
Symptoms like joint pain, stiffness, recurrent red eyes etc.
Have you been prescribed oral anticoagulation ever?
I may revert back to you after you provide me these inputs.
Cheer-up and take care of yourself well..
- Dr. Satish
Note: For further queries related to coronary artery disease and prevention, click here.
Above answer was peer-reviewed by :
Dr. Bhagyalaxmi Nalaparaju