Valve Regurgitation

[ValW]

I have a 16 yr old daughter with auto-immune thyroid disease and a rare form of arteritis called "Takayasu Arteritis" (also believed to be auto-immune related).  TA has been an extremely hard disease to manage. Her MRI's of the Aorta and its branches shows that she has Left-subclavian occlusion at 100% with collateral vessels that have resupplied blood to her left arm. She also has partially blocked right subclavian artery with bruits mostly over right side neck. Left side bruits is no longer heard. She does have reduced pulse mostly on left but some on right. Currently new symptoms have included dizziness, headaches, some eye pain occasionally.  Most recently she saw a vascular surgeon to see if her newest symptoms could be explained by MRI of the subclavian arteries and vessels that supply the brain. This doctor also did an echocardiogram to see for himself an aortic valve leak that was previously seen by another doctor. The Echo now shows two additional valve leaks. Doctor said she has Tricuspid regurgitation, Pulmonic Regurgitation, and the Aortic Regurgitation. He said all seem small.  The doctor did not see reason for her most recent symptoms. We have an appointment set for mid-June with a neurologist who she has never seen before, but I was wondering if these 3 valve leaks together could be causing Pulmonary Hyertension and if that could explain her symptoms.  Or do you know of any other possibilities?  The problem with this disease is that it really requires a team of doctors to manage it, but its so rare that there are few groups like that in the country and the  ones I found are on the other side of the country.  My daughter presently is on: Steroids, Methotrexate injections, azathiroprine, Humira injections, Levothyroxine, & numerous multi-vitamins, calcium, etc.   Her Sed-rate was going up for about 2 months but the most recent test shows it is down to 15 from 33. Her CRP was also up but is now down to 4.1.  Her WBC is also high at 12.1 everything else is normal, including her liver and kidney panels. Perhaps she needs a new MRI to access her aorta and pulmonary inflammation or scar-tissue? Her last one was Oct 2009.

[ValW]

It was so nice to hear from someone who obviously has spent a lot of time researching. I agree with you on all counts.  Before my daughter was diagnosed a year and a half ago with TA, She had six months previously been diagnosed with Auto-immune thyroid and put on Levothyroxine. Although that took care of her thyroid imbalance, she continued to have chest pains and other body pains, as well as weight loss, headaches, shortness of breath, fatigue, to name a few. In the year before she was diagnosed with TA, she lived with moderate to severe chest pains everyday, all day.  ER doctors told us numerous things such as:  it was atypical chest wall pain, or we were looking for a pink elephant that we may never find!, and still another told me it was all in my daughter's head. Cardiologist said she was fine. Pulmonary Doctor said her lungs were great!  One Rheumatologist said she had symptoms of Graves Disease and another said she had Fibromyalgia. But I finally found a Rheumatologist with apparently more experience than the others, and he ordered a CT scan right off the bat as well as rechecking her blood for inflammation (which at that time we knew was sky high) and antibodies. The CT results came back late on a friday and the Dr was gone for the weekend so I got our family Doctor to get me a copy of the CT Report. When I saw we were dealing with possible form of Vasculitis, I spent the whole weekend in medical journals and reports, by Monday morning I was almost certain it was Takayasu Arteritis. It fit right down to her age, female, Aortic Arch, Descending Aorta, & a little inflammation showing in the main pulmonary branches. All her  symptoms of chest pain, etc fit the puzzle.  When her Dr. called us in, he was certain of TA as well.  But sadly this is an extremely hard to manage disease and the fact that it is also a very rare disease makes it that much harder for Insurance to approve these drugs she needs to take in order to survive!  Doctors want to switch her from Humira injections once a week to Remicade IV once a month so that we have room to go up on this TNF-Blocker if needed, because we have already had to start reducing some of these toxic drugs like Methotrexate, Prednisone, & eventually Azathirophrine due to their long term affects.  She's already been on most of them about a year, except before Humira, she had Enbrel.  Insurance keeps denying us the Remicade stating that the J code does not match the diagnosis. But none of her drugs J codes match because Takayasu is so rare that no one has studied it enough to get drugs prescribed to it.  It's a daunting task dealing with Insurance companies who are without feelings.  The new findings with the valves tell me she continues to have active disease which we must get under control to prevent further damage to vessels and organs.  The 3 valve leaks don't seem to be cause of her dizziness and headaches, but there seems to be something going on that is secondary to her primary illness of TA. I just don't know what...   Truly, thanks for all your comments and for lending an ear.  

[ValleyLily]

HI,
As you've probably already found out for yourself, the world of rheumatology is tough, even for doctors who call it their specialty.  It's not like other fields of medicine where a specific area is tested and you more or less got your answer. Autoimmune diseases share many overlapping symptoms, multiple organ involvement, and many complex auto-antibodies.  The "treatment" is all basically the same as it's geared to calm down the hyper immune system so hopefully the body will stop attacking itself.

I'm 46 now and have been battling one form of autoimmune disease or another since about the age of 18.  At present, I'm battling polymyositis (a connective tissue disease) and sjogrens syndrome.... both are auto-I diseases which can overlap with forms of vasculitis.  My rheumatologist screens me often for inflammatory diseases of the blood vessels since I also have a history of vasculitis of the colon, skin, and the brain, so I've heard of takayasu arteritis before.

You deserve much credit for being proactive in your daughter's case. I personally found it necessary to research all I could and then question  "WHY" such and such had not been tested or ruled out.  That was the ONLY way I achieved results, a proper diagnosis and treatment.

Your daughter is receiving a combination of the most powerful drugs available, and you are so correct in saying that the problem is that "it takes a team of doctors".  It's wonderful that her sed rate and CRP are within normal limits now, but as a note of caution, these can't always be counted on as proof positive, especially if symptoms still appear.  I was walking around with a CPK of 4000, (very high reading and a marker for muscle damage and inflammation).... and yet my sed rate was low.  My ANA (anti nuclear antibody) was negative.  Doctors were stumped because it was not a text book case. I've heard every extreme from "you're so healthy you could join the military.....to a chief of rheumatology commanding me to "take Methotrexate OR you'll be DEAD in 3 years".   Well, I chose to look for a new doctor... and I'm obviously still alive and kickin' 8 years later, without his advice.  I had another rheumatologist look at my blood test results and remark "Ewww, I don't like treating this, no one ever gets better!"   There are exceptions to every rule, and the one thing I've learned for sure is that NOTHING is for sure.

My mother was also diagnosed with the same autoimmune disease (PM) as me 11 years ago, and she does have mild regurgitation of the same valves as your daughter.... with pulmonary hypertension.  Granted, she is in her 80's with hypertension.  Your daughter is very young.  The cardiologist told us that the pulmonary hypertension could have been due to the autoimmune/connective tissue disease OR as a secondary complication from the regurgitation of her valves and an enlarged heart.  She supposedly has moderately severe pulmonary hypertension as her pressure was about 68mmHg, although remarkably she shows no outward signs of dyspnea.  


If your daughter has had an echocardiogram, her pulmonary pressure should have been evaluated already.  Although, the most reliable reading would be from a cardiac catheterization I hear.


Best wishes to you and your daughter.

[kenkeith]

Pulmonary hypertension can be secondary to TA. Takayasu arteritis is an inflammatory disease that affects large vessels, especially the aorta and its branches. The clinical features of the disease depend on which arteries are affected. Although pulmonary artery involvement is common, only rarely is this the main clinical manifestation.

You are looking for a 3 valve disorder as a syndrome that may have PH implications.  I don't know of any syndrome represented primarely or secondarily with minor valve leakage.

There is treatment for dyspnea (difficulty breathing) who had severe pulmonary hypertension secondary to Takayasu arteritis of the pulmonary artery. Medication can be "corticosteroid (methylprednisolone) and immunosuppressant (azathioprine)therapy and a stent was implanted in the left pulmonary artery. Both hemodynamic and clinical signs improved".

Sorry for your daughter's medical problem.

[ValW]

No blood clots any where.  Her major problem is the Takayasu Arteritis, but it is complicated by several issues caused by inflammation & her immune system attacking her vessels. I haven't been able to find any info on a person who has all 3 leaking valves (Tricuspid, Pulmonic, & Aortic).  Perhaps these 3 valve leaks are a clue to something else going on that hasn't yet been diagnosed?  Her symptoms of Dizziness & headaches could be evidence of neurological vessel inflammation, but most recent CT shows blood flow beyond the occlusive subclavian arteries is good. collateral vessels are present.  I recently read that Pulmonary Hypertension could cause her symptoms & was wondering if the 3 valve leaks could be caused by that or if the PH could cause the valve leaks?  Bottom line is that I am just a mother whose daughter has a serious & potentially life-threatening disease and I am trying to be proactive rather than wait for an urgent event to happen.  thanks for your input.  its truly appreciated.

[kenkeith]

For some insight: Often PH is the result of walls of the arteries are not flexible (sometimes from birth or later life) or become stiff from an overgrowth of cells.  There can be blood clot in the pulmonary artery or some clots in the lungs. These changes make it hard for the heart to push blood through the arteries and into the lungs. Thus, the pressure in the arteries rises, resulting in PH.

The small leakage would not present any medical problems.  Hope this helps, if not feel free to respond.  Take care and thank you for sharing the information.