Beals Syndrome (CCA) in a Marfan's patient?

Hello all,

So, I'm one of those 'lucky' people who has known about my Marfan Syndrome since birth because it runs in my family and goes back several generations.

I try to stay on top of what's happening in the field as it might impact my medical care. Recently I came across a description of Beals Syndrome on the National Marfan Fdtn. website and so many things clicked into place... I'm wondering if I (and most of my family) actually have Beals and not Marfan.

Below this text I've included a list of symptoms, but my main questions are: Does anyone here know of a clinic / practice that is currently studying Beals (CCA)? Does anyone here have personal experience with this syndrome?

To my knowledge no one in my family has been to a genetic counselor, because most affected family members made it to adulthood before such testing was even available. The common traits shared by my affected family members are marfanoid stature, extreme myopia, joint contractures and what we've lovingly termed 'cauliflower' ear - a crumpled appearance to the top part of one or both ears.

Marfan has been a part of my identity for as long as I can remember — it's always affected so much of what I 'can' and 'can't' do. (And I've been proud to think that maybe I share something with Abe Lincoln and Paganini...!) Has anyone else experienced this that would be willing to share their experience / insight?

Thanks for reading,
Althea

Medical stuff:
Skeletal / Muscular: I'm a 31-yr old female with tall / skinny frame (wingspan greater than height) but no joint hypermobility. When my doctors have known about Marfan they often think it's odd that I'm not 'bendy'. My elbows have not straightened fully since birth, although a mild contracture of the ring and pinky finger of the left hand resolved on its own by the time I was 6 months old. I was born with clubfeet that were corrected with casts worn for the first 6 weeks of my life. Calves / forearms have always been skinny, and I blame my weak calf muscles for my _constant_ ankle sprains. Recent fractures have led doctors to believe I have osteoporosis. (Bone density scan scheduled for a few weeks from now.)
My toes / fingers are ridiculously long, which served me well in my first career as a musician. (The fingers, that is, not the toes!)

Cardiac:
Mild mitral valve prolapse, but no aortic dilation. I get regular echocardiograms.

Ophtho:
Extremely myopic (-17 diopters), but no lens dislocation / retinal detachment.

Cranio-facial:
I've never had the typical long and narrow Marfan's face. Instead I have a rather round face with a small-ish lower jaw. 'Cauliflower' crumpled appearance on the upper / outer left ear.

Autoimmune:
Probably not related (?), but I also have discoid lupus and fibromyalgia.

Anyhow, thanks again for reading and please pass on any info / references you think could be relevant.

Report post

21 replies. Join the discussion

It is possible that the diagnosis of Marfan syndrome is not the appropriate one for you and by extension, your family. The two conditions overlap significantly, but are caused by different genes. If you wanted to find out with more certainty which diagnosis is the correct one for you, you could have the genetic testing to see if an alteration in one of the two genes could be identified. The best and easiest way to go about this would to speak with someone in genetics. To find a genetic counselor, go to www.nsgc.org. From there you can put in your zip code and find a genetics center near you. Best of luck.

Report post

Hi Althea:

I also have CCA, along with a considerable number of family members. Around 1980, as a child, I was studied at NIH, along with the entire affected family tree (here in the U.S.). My grandmother hails directly from England; she was affected and passed it on to us.

In July of 2007, I went back to NIH and spoke to a Dr. Michelle Paulson. Her e-mail address is: maulsonm@niaid.nih.gov

Dr. Paulson is working with another doctor to study respiratory predispositions in white females. However, CCA became a subsidiary exploration. From blood tests they took from me, my aunt and my uncle, it was determined that our family has a unique branch of CCA. Aside from that, I have heard no other news.

Perhaps Dr. Paulson could be contacted to help you with your questions. She did convey some interesting information about the genetic differences between Marfan syndrome and CCA. According to her, the variances along the genetic strand for Marfans syndrome are uniform (she drew a picture of a horizontal line with equidistant small vertical lines along it). However, CCA shows up as a bunch of small vertical lines placed at the center of the horizontal line, while the rest of the horizontal line, on both sides, is unaffected. Perhaps this is a partial explanation of why the symptoms typically are less severe in CCA patients.

Please write back if you get this message. Thanks & best wishes,

Dani

Report post

Dani,

While I wouldn't wish illness on anyone, it's so good to hear of another person out there with CCA. My family has known about this set of symptoms for at least three generations, but we haven't been able to go back any further than that. Mild Marfan's seemed to describe the affected family members, although I think CCA might be a better fit.

How are you doing health-wise? Hopefully your (and your family's) symptoms remain less severe. Thanks so much for writing - I'd love to hear more about you!

Althea

Report post

Hi, look up nail patella syndrome you'd be suprised npsw.org

Report post

Hi Althea:

Thanks for writing. After doing a little more research on CCA in comparison with Marfans, it seems that there were some digressions. According to a case report from 1975:

"The lack of cardiovascular disease, specific ocular anomalies, and mental retardation are presented in the differential diagnosis of the C.C.A syndrome with Marfan's syndrome and homocystinuria." Here's the web address for that abstract:

http://www.find-health-articles.com/rec_pub_1058423-the-c-c-syndrome-congen ital-contractural-arachnodactyly-new.htm

I found a few other articles that also indicated that optical and heart effects were different for CCA patients as opposed to the severity of Marfan's syndrome.

You mentioned that you had a mild mitral valve prolapse and no aortic dilation. I share the same diagnosis of no aortic dilation. I went through an internal imaging at a hospital in 1999 to pinpoint whether there was any aortic dilation. The test also did confirm a mild valve prolapse (2nd and 3rd ventricles only).

This might be important, because I have been diagnosed with MITRAL valve prolapse since the early NIH study I told you about. However, what they saw from my test in 1999 was a more common prolapse, further inside the heart, that is less severe than the mitral valve prolapse. Just thought you might want to know that just because a doctor hears a prolapse through a stethoscope doesn't mean that it is mitral.

Also, for the record, the NIH people that did our family CCA research in 1980 tried very hard to box all of us into specific symptom categories (all affected family members had to have mitral valve prolapse, etc.). However, there are variances between us, and in hindsight, it would have been more honest for them to have admitted that fact. Instead, I went through school thinking that I couldn't play sports because of a mitral valve prolapse (which I didn't have).

Also, CCA doesn't automatically cause ocular problems, since I had 15/20 vision when I was tested in 1980. However, every other affected family member had strong myopia.

I and my affected family have a pronounced marfanoid structure. However, there is a range of affectedness. I have an uncle who is 6'7" who has massive heart problems and extreme marfanoid traits. However, it is difficult to tell that one of my cousins has it. She is also very short in comparison to other affected family members. So (in my family at least), there appear to be degrees of affectedness.

You mentioned that CCA goes back three generations in your family, as it does mine. I did see a picture of my great-grandmother (who was from England), and from her stance, she appeared to be affected.

Did you get your bone scan done? I'm 37 now, and my bones have started appearing lighter on X-rays. My foot broke 2 years ago. I am taking a calcium supplement, which I hope will help. Also, a doctor told me that simply drinking milk every day is also a big help.

You mentioned problems with your feet, and aside from contracted fingers (pinkie especially) and toes, I was born with dislocated hips. My feet were also 'backwards,' and I was in casts for the first 2 years in order to turn them around. Elbow and knee contractures continue.

I thought you might like to know that I informally got some help on the contractures through physical therapy called 'Rolfing.' It is a technique that attempts to balance the body by looking at the overall structure as a series of building blocks. What is interesting is that the physical therapy, although very painful in contracted areas, actually removed some of the visible effects. For example, I always had extremely bony legs, but after the Rolfing was done, my calf muscles began to grow normally for the first time in my life. I also now have muscles on my shin area that I never had before. In other words, I almost look unaffected now, which I had never dreamed could happen.

Rolfing can really help with balance, too. However, a physical therapist warned me that Rolfing can cause scar tissue, so I don't want to recommend something that might hurt you. Either way, a physical therapy that causes the fascia around the muscle to loosen might really be helpful. Also, nobody seems to know that a therapy like this can help with the physical appearance aspects of CCA. I stumbled upon it by accident when my osteopath (a doctor who manipulates bones in a similar way to a chiropractor) told me that he couldn't really help me, and that I should try Rolfing to loosen my muscles up. The changes in my muscle size and appearance was an unexpected side effect.

Hope this helps,

Dani

Report post

Hi Dani,

I've even thought about trying Rolfing, but was scared it would be too hard on my joints.... So interesting that it helped you build muscle mass. (Which all the calf raises in the world don't seem to do for me!)

Althea

Report post

Have you considered Loeys-Dietz Syndrome?

Report post

Althea thanks for starting this topic!

I was diagnosed with Beals in 1999. At the time I was told I was 101 in the world with this. I have not come across many doctors who know what it is (other than a few of my main conditions to treat). I have the hand and toe bends/curves. In the feet (arachnodactyly), hands (camptodactyly) which I'm in the process of planning my next surgery with doctors (being so rare its all very confusing....they all seem to want to find some other condition in the process...while its great they are looking into every avenue I just want to scream at them and say Hurry up! im in sooooo much pain just try it rather than analyse it!) Like I said in the process of having an operation.....so feel like im a little defeated at the moment and the pain and function of my hands are slowly getting worse. Its like I'm starting all over again with the diagnosis process as I was a teenager and was seen through specialists and teams in a Childrens hospital and now I have to find new specialists and places to be referred to as an adult.
I also have severe scoliosis. I had two 90 degree bends what started from nothing to that level in what they think was a 3 month time frame. I had surgery asap to correct with 2 harrington rods. The operations was still considered a success (I would be in a wheel chair without it) but I still live with daily pain and have a lower bend in my spine/hips. While planning my surgery for my scoliosis I developed rotated spine and my shoulder rolled forward. My scoliosis was classed idiopathic adolescent scoliosis but mild scoliosis runs in my mothers side (all female) of the family and one of my sibblings has a slight curve.
The scoliosis stunted my growth and I'm shorter than most family members but still have arms much longer than the rest of my body.
We start genetic councelling this year as my 4 year old has just started showing signs of curves in her hands and complains of severe leg pain daily.

Dani - For temporary pain relief I use accupuncture but the type (unsure if its got a specific name) where they attatch clips and wires and send a pulse through your muscles. I also use a remedial massage therapist fortnightly. I also researched a lot of herbal therapies for arthritis (I dont officially have it but have the symptoms) and try every thing out there (fish oils, acacia etc).

Report post

Hi Aimzy,

Thanks so much for sharing your story — it sounds like you've been through so much. I'm lucky in that I've always had a mild version of whatever it is that I've had: I've had few hospitalizations and no surgeries (yet, here's hoping it stays that way!)

It's so interesting that this is only showing up in your daughter now... I hope her leg pains are _just_ growing pains and that she recovers fully. Then she can just have the benefit of being tall with none of the bad bits of CCA.

Thanks for the tip on acupuncture. I've been thinking about trying this for a while, and you've motivated me to get over my fear of needles and give it a go.

Keep us up to date on your upcoming surgery, OK?

Althea

Report post

Sure, will keep you updated (next appt is in just under 2 wks time and were hoping to have a date then, Ive already signed the pre op forms they are just deciding on what surgery path to go as they have conflicting results from my xrays vs ultrasounds so may have to decided on the day when they can see in person).

I would highly recommend accupuncture (I'm very much for natural relief than using painkillers if possible, as over time it will take its toll on your liver/kidneys), its not really at all like having a needle (feels like a flick or a peg pressure...bit the needles in the ears and ankles sting a little!...if you choose to have the whole body done) Make sure you take to option to get heat massage or a quick back/body rub afterwards- generally the person doing the accupuncture will do this but not always and I came to realise that this determined for me if I would have immediate relief or not in my neck and lower back.
I benefit more from remedial massage. I recently started using a new lady and shes works wonders! Shes actually started looking into marfans and what areas to stay away from and what to stimulate to help.

I have only agreed at this stage to have my daughter tested with a blood test and an ultrasound (we start the process after my hand surgery) as I dont want her to have anything unnecessarily intrusive or distressing tests done. I had the lot done to test for marfans (before and after my operation to put the rods in) around age 16 (skin cut, bloods taken, probably over 15 xrays, two 4 hour long full body MRI Scans etc) . Were hoping in her case its nothing and my doctors arent keen for a tonnes of tests for a few more years as I only started showing signs of problems from age 8 and worst case scinario she is not at risk until shes hits her teenage years. Even if we did all the tests in the world and put her through it she may not be a risk right now but may show warning signs in another handful of years. Were more so keen on catching if she has camptodactyly in her hands so we can see if splinting now will prevent and further curves.

Report post

Hi Aimzy and Althea:

Thanks for writing, and thanks Aimzy for the suggestion on acupuncture. I just had an extremely frustrating day with my chiropractor, in which he refused to accept that my joints have hypermobility. Although we discussed CCA (Beals) before I began treatment - his understanding of the situation was one of my prerequisites - he continues to tell me that my joints will react just the same as everyone else's (regardless of the pain and inordinate misalignment I was feeling a few days after his treatment).

A few weeks ago, he did diagnose me with scoliosis in my upper back/neck area. The work he was doing to stabilize my pelvis seemed to be more helpful.

Also, he is using a chiropractic tool called an "activator" on my feet, which he is using on the curved toes (three on each foot have extreme curvatures). He is also using it on the top of my foot where the foot meets the ankle, and I am noticing more strength and muscle development. Additionally, he is giving me some exercises to promote the development of an arch in my foot. I don't know if this would be helpful to Aimzy or not, since her surgeries are in process.

Althea, you mentioned: "I've even thought about trying Rolfing, but was scared it would be too hard on my joints.... So interesting that it helped you build muscle mass. (Which all the calf raises in the world don't seem to do for me!)"

The buildup of muscle mass is (to my knowledge) an effect that is unknown to the medical community, and it was an unexpected by-product of my treatment. My Rolfing therapist wanted to do a medical paper on it. Unfortunately, I didn't have any pre-Rolfing pictures to prove what I used to look like, since I covered up all the time so that no one could see how skinny I was. You are right, no amount of workouts will make calves grow. I tried it myself, and Rolfing was the only thing that helped my muscles to begin to develop. However, as I mentioned in an earlier post, a different physical therapist warned me that Rolfing can cause scar tissue. So I don't want to recommend anything that could be dangerous. To date, I have had absolutely no ill effects from the therapy (I began it about 15 years ago).

Aimzy mentioned massage therapy, and in view of the chiropractic troubles I am having, I will probably be trying that again very soon.

Thanks for all of your input, it is really helpful.

Dani

Report post

Hi Im newon here - found out about this thru googling beals syndrome doctors.
Im trying to figure out what type of doctor I need to see to be followed by - who in return can tell me what more can i expect down the line. Following my scoliosis and my knees dislocating easily.. Im the first generation to figure out what was causing all this. FINALLY diagnoses in Feb 2009. Ours range from clubbed feet thru finger contractors

We are in the Palm Springs area. My kids go to Radys children in San Diego for treatments.
If anyone could help me out on what "type" of doctor I need to see it would be greatly be appreciated.

Thank you

Report post

Hi JennkneeContracs,

If your experience is anything like mine, you'll have more of a team of docs, with one leading the way (along with you of course!)

Until a few years ago, I only saw my GP, a cardiologist, and ophthalmologist. Now that I've started to see more involvement, I also see a rheumatologist and orthopedist. In my case, the GP still leads my 'team' and I run everything past her. (She's trying to help me get my insurance to pay for the actual genetic testing to see if I have Marfan's or Beals, though I'm doubtful the insurance will go for it.)

Every individual's path will be different — it sounds like so far you've had mostly joint / bone involvement. Is your vision ok? Have you ever been checked for heart problems? Depending on your answers to these questions, a baseline eye and/or cardio exam may be in order. Since your doctor was knowledgeable enough to help you get to a diagnosis, s/he should know what follow up your specific case requires.

Good luck with all of this — I know it can be overwhelming at first, but just remember that you are your own best advocate and keep working through it!

Yours in health,
Althea

Report post

" it sounds like so far you've had mostly joint / bone involvement. Is your vision ok? Have you ever been checked for heart problems? Depending on your answers to these questions, a baseline eye and/or cardio exam may be in order. Since your doctor was knowledgeable enough to help you get to a diagnosis, s/he should know what follow up your specific case requires."

My vision - my pressure always comes back high. I have a referal in for a echo of my heart.
For me yes - it is mainly scoliosis and knee dislocation. I have low bone density aswell. No toes are a bit crumpled but do not bother me. My doctors didnt find it - I noticed a similar pattern in my family and my kids. We've just gotten our diagnoses in feb but have been suspected of it since 2004 - But info is scares and few.
I go back to interal med tomorrow to see where he would like to refer me out to?!?! So some one can get me on some type of plan.
My THREE kids with Beals syndrome are being followed fairly close at a childrens hospital - im happy with their progression.

Report post

Just a quick update for you...I had the surgery last monday. They only did one hand for now. Very painful. Cast comes off wed so will know what type of function I have been left with (initially no sensation and movement). They told me I should have 30% more flexability, pain wise still unsure. (should only have a 60% curve). They ended up cutting the tendons in 3 places and then taking skin grafts from my hip (wasnt enough skin there to make it straighten out).

Report post

Hi Aimzy,

I hope you are healing well and only typing with your 'good' hand! Thanks for the update - you'll be in my thoughts.

Althea

Report post

I was diagnosed with having Beals in 1971...I have had numerous surgery's when I was younger....a couple spinal fusions that didn't take so they finally decided on a Harrington rod to prevent the severe scoliosis from getting any worse. I have had lots of surgeries on my hands to release the tendons and try to straighten my fingers.....back braces and hand splints worn all night were normal when I was growing up, I also exhibit the crumpled ear and contracted extremities, my limbs and digits are very long and thin, I wear size 12 men shoes(my pet peeve...thankfully I was more of a tomboy). Lots of my childhood was spent at Sick kids in Toronto. I was diagnosed at 1 year of age, my father had a much milder form of the syndrome. I have one sister who does not have the syndrome. I started genetic counseling in my late teens to inform myself more about it, as I always wanted children but did not want my children having to endure that countless hour of inconsiderate people being rude. I was fortunate enough to have 2 healthy children that do not have the gene...thanks to God first of all, but also genetic testing at 10.5 weeks called chorionic villi sampling....i was blessed both times and did not have to face the proverbial question of what I would have done....to this day I cannot say what I would have done. I am just glad my children can go on to have families of their own if they wish without having to worry like I did. Having Beal's has made me a much stronger and understanding individual, my motto was whatever you can do I can do better...I was stubborn so my syndrome did not prevent me from doing anything(except sitting cross legged on the floor-could never do that without tumbling over backwards even to this day). I am not sure if my pain threshold is high but I do not feel in pain all the time....I am told arthritis will be a big factor in my life due to my joints being so large already.....it hasn't hit me yet and I am heading on 40 next year. I will keep my fingers crossed that it remains that way.. Well that's my story, just thought I would share..

Report post

Hello!

My name is Kate, i am 28 years old. I have a problems of information because i am from Russia were genetics is an exclusive specialization.

I want to know about genetic differences between Marfan syndrome and CCA.

My elder son has a Beals- Hecht Syndrome - he is 9 y.o.. Moscow expert of genetic says that it was a new mutation. But, unfortunately, my second child (2 months) has this syndrome too. Both children have heart defects and others visual mutations. Crushed ears, long hands and feet, spidery fingers.

I read many information about this syndrome - now I doubt fidelity of the diagnosis....

A have some questions: both children do not have problems with eyes - will be they appear late ? Scoliosis - increase or decrease? Contracture forecast?

And do you now anything about life expectancies?

I will be grateful for any information.

Report post

Hi Ekaterina:

You said: "I have some questions: both children do not have problems with eyes - will be they appear late ? Scoliosis - increase or decrease?"

I also have Beals Syndrome, and was tested with perfect vision by the U.S. National Institute of Health when I was 8 years old. I don't believe that CCA patients have the same eye difficulties as those with Marfans.

Scoliosis usually appears at the onset of puberty, so that would be a good time to have him checked out for that. I had read information that said that scoliosis should be monitored for changes.

You may want to visit the NMF (National Marfan Foundation) website at: www.marfan.org. They have a lot of information which indirectly deals with CCA, as well as limited information on CCA itself.

I e-mailed them with some medical questions (such as questions on aortic enlargement), and a registered nurse answered them, which was reassuring. If you have medical questions, their e-mail is: staff@marfan.org.

I also requested and received (by mail) a large packet of information which may also help you. You can request it at the web site. I'm not sure what arrangements are in place for overseas mailing, you may wish to ask them.

Hope this helps,

Dani

Report post

Hi Ekaterina:

One more thing - you had requested information on life expectancy. From the Marfan booklet I had, it said that life expectancy was improving (up to 70 years, but that is only an average - my grandmother lived to be 80, and she did not die as a result of CCA).

I think that the life expectancy issues are from aortic enlargement, which does not always happen. The aorta can be checked for enlargement (I have had this done), and if it is enlarged, drugs can be prescribed by a doctor. This is the most serious threat to the lifespan. CCA is not as bad as Marfans (from what I can tell, and this is just my opinion), and everyone in our large, extended, affected family has had a long and normal life.

It is suggested that certain activities (such as high-contact sports or weight lifting) be stopped altogether, because of the risk of injury to eyes and the aorta. Also, scuba diving should be avoided because of the threat of lung collapse. A full list of dangerous activities are on the Marfan web site. Again, the staff at the Marfans site can help with more information.

Take care,

Dani

Report post

This discussion is closed to replies. We close all discussions after 90 days.

If there's something you'd like to discuss, click below to start a new discussion.

Join our Gaucher Disease Support Community today!

Things you can do

Support Genetic Alliance

Help Genetic Alliance reach its goals and support people like yourself by making a donation today.

Donate to  Genetic Alliance

Join our PNET patient community today!

Join the Cushing's Disease Community on Inspire Today!

Discussion topics

Community leaders