Inconclusive results for connective tissue disorder

[WinstonWolfe]

Hello all,

I was recently given an initial diagnosis of antiphospholipid syndrome after being hospitalized with a second pulmonary embolism since 2015. The first PE was seemingly “unprovoked” but massive, requiring a 4-day hospital stay in an “acute care” unit. I recovered from that incident quite rapidly, returning to work and a mostly normal routine within a week of my initial hospitalization.

This latest PE, while far less serious than the first, has proven quite stubborn to recover from. I remain as short of breath and fatigued as I did before being admitted and have been unable to go back to work without my condition getting worse.

My hematologists have ordered blood tests for anti-nuclear antibodies, looking for connective tissue disorders such as SLE and Sjogren’s as the possible primary condition underlying my APS. Unfortunately, these tests were somewhat inconclusive: while I was ANA positive in a “screen by multiplex,” the so-called ANA IF was negative. When looking for specific CTD-related antibodies, only Anti SSA/Ro (associated with Sjogren’s) was positive, but not Anti SSB/La, EIA, nor any of the other antibodies associated with SLE, Sjogren’s, RA, etc. My hematologists are at a loss for how to interpret these results and are referring me to a rheumatologist whose first available appointment is 6 weeks away. Meanwhile, a pulmonologist is ordering lung function tests to help figure out my continued shortness of breath.

To sum up, I’m desperate to return to a normal routine where I have the energy to persevere through the day but my doctors seem deadlocked on how to relieve my symptoms, or even identify the specific problem. How have those of you who’ve been where I am now managed to make progress?

Thanks in advance for your sympathy and support.

-WW

[KayHimm]

It sounds like you are going through a lot. You must be frightened by the hospitalizations and confused by the diagnostic work-up. Try to have faith that your doctors are doing everything they can to determine what is causing your symptoms. Unfortunately for us, there aren’t always simple tests that make everything clear. They are treating your immediate symptoms while training to connect dots. Ask a lot of questions and know your doctors are truly concerned about you and will continue to run tests and seek expert opinion to help you.

[KayHimm]

Also, it is good you are seeing a rheumatologist. With a positive ANA and two specific auto-antibodies, he will be helpful in getting a clearer picture. Your history and exam are just as important. You will be challenge, but that is not such a bad thing!

[MaryF Administrator]

HI, welcome, it is like putting a giant jigsaw together at times. Are you in the UK? If in the UK are you seeing one of our recommended Hughes Syndrome/APS specialists? They are under pinned posts over on the right hand side of the forum. If not in the UK, list on the charity website are our list of UK and global specialists, the slider on the front of the website, currently advertising our next event, if you slide that to one side, you will see them: ghic.world/

If you are not under one of these, it may be useful to give them our website. It is best to be under a specialist rheumatologist who fully understands this condition. Make sure they also test your folate, ferritin, vitamin D, B12 and also a full Thyroid panel, not just the TSH test, your antibodies and any other tests they are willing to do in that direction.

Mary F

[leakeadea]

Hi there, sorry to hear you're having such a hard time recovering from your second PE. I can't help you re your blood test results but I have experienced many PEs and can offer you a little advice about your recovery.

I have always sent up sprays of small clots to my lungs and in 2016 had the worst breathlessness symptoms I'd experienced for a long time, after having multiple sprays of smaller and micro clots to my lungs.

My local respiratory doctor explained that I was likely to be more oxygen starved, than someone who had experienced a large PE but in only one lung because they still had full use of the other lung.

She said that the multiple smaller clots I had were blocking the micro blood vessels to the alveoli, which is where oxygen transfer actually takes place in the lungs. A large clot in one of the larger pulmonary arteries in the lung, once cleared allows for the blood to reach all areas of the lung again. Multiple smaller clots in the sub-segmental areas of the lung and micro clots in the micro blood vessels of the alveoli, can actually take much longer for your lungs to clear and this could be why it's taking you much longer to recover from this second bout of PEs.

When I have sprays of micro clots in my lungs, I tend to accumulate fluid/mucus in the airways of my lungs as well, where the lungs become irritated and this can really add to my breathlessness. I don't know if you're experiencing this at all but if you are, I find that cupping my hand and gently banging my lungs, helps me to cough up and clear this fluid from my lungs.

As well as APS, I also have Ehlers Danlos Syndrome hypermobile type, which is a connective tissue disorder but not an autoimmune condition. It is possible to have connective tissue issues, which won't show up in the autoimmune blood tests, so I think your doctors have done the right thing by referring you to a rheumatologist. My EDS comes with lung issues too and so can also affect my levels of breathlessness.

I wonder if anyone has done an echocardiagram on your heart to look for signs of pulmonary hypertension?

I had this with both my first and second bout of PEs, in fact my first PEs were actually diagnosed because a cardiologist saw mildly raised pulmonary pressures during an echocardiagram. He then ordered a VQ Scan for me and I was then diagnosed with my first PEs.

Pulmonary hypertension will cause you to be breathless and is something that you can get following PEs because the heart is having trouble getting blood into your lungs, which causes the pressure to rise in your pulmonary artery.

I recovered from both my episodes of pulmonary hypertension, following my PEs but not immediately, it took me a few months. I actually had to have oxygen supplementation after my second PEs for a period of time and I believe that this helped me to recover more quickly because my heart and body were getting the oxygen they needed, until my lungs had finally recovered from my multiple PEs.

I hope this helps.

Claire 😀

[Wittycjt]

Are you getting supplemental oxygen, I hope?

[Wittycjt]

You don’t say if you are on an anti coagulant, are you? Are you in the US?