Instead of just posting the second half of the Marfact’s I decided to give them all to you so you can copy and print out if you desire. My blog two weeks ago just had the first fifteen, but today’s includes those plus the remaining fourteen.
I loved what Maya Brown-Zimmerman posted later in the day yesterday. She blessed us with a bonus Marfact that Amanda and I both chuckled at: Bonus MarFact: Last year, at the beginning of Marfan Awareness Month, a friend asked why the tallest people get the shortest month for awareness. I believe the answer lies in our hypermobility. We're flexible enough that we can fit 31 days' worth of awareness into 29!
When you have a genetic condition like Marfan Syndrome it is best to keep a sense of humor. It can be hard many days as the stiffness and pain gets very tiresome, but Maya put a smile on my face with this one.
Please enjoy all the Marfacts and again, and feel free to share these in order for people to have a greater understanding of the lives that we and our family’s live.
Marfact #1: Marfan syndrome is a potentially life-threatening disorder of the connective tissue. Connective tissue is like the glue that holds your body together, which means that Marfan can affect many different parts of the body.
MarFact #2: Marfan syndrome is found equally among all ethnicities and genders. It affects about 1 in every 5,000 people, but it's estimated that only HALF know they have it!
MarFact #3: With proper diagnosis and treatment, the average life expectancy for people with Marfan syndrome is the early 70s (aka the same as the general population). Without proper diagnosis and treatment, the life expectancy drops considerably. This is why awareness is so important!
MarFact #4: Marfan is a syndrome (a collection of symptoms that tie together), which means that people can be affected in a variety of ways. There is only one "type" of Marfan, but the disorder ranges from severe (all possible manifestations showing in a newborn) to very mild (people who are not diagnosed until late in adulthood and have few symptoms).
Marfact #5: Let’s talk how Marfan affects the body. First up, the skeletal system. People with Marfan may be tall (in relation to their unaffected family members) and thin, with long arms, legs, fingers, toes, and faces. They may have flat feet, chests that curve inward (pectus excavatum) or outward (pectus carinatum), scoliosis, or kyphosis. It’s also important to point out that you don’t *have* to be tall or thin to have Marfan.
MarFact #6: Pulmonary system time! Many people don't realize that in addition to the cardiac issues (we'll get there tomorrow), lung problems can ALSO be life-threatening for Marfan patients. Possible pulmonary issues include restrictive lung disease, asthma, emphysema (without ever smoking), COPD, pneumothorax, and sleep apnea. You can even see these in very young babies. Obstructive sleep apnea is particularly common in Marfan patients.
Marfact #7: Marfan syndrome causes aortic enlargement, and this is the most dangerous aspect of Marfan because it does not have symptoms. The aorta is the main blood vessel coming from your heart. When it enlarges (called an aneurysm), it puts you at risk for aortic dissection (the aorta tearing). That can be deadly (and dissection DOES have symptoms, but by then you’re in an emergency situation). Again, there aren’t symptoms of aortic enlargement, so it’s vital that a person who suspects Marfan syndrome have one of the following tests to assess their heart and aorta: an echocardiogram, a CT scan, an MRI, or a TEE. X-rays and EKGs will NOT diagnose an aortic aneurysm! Leaky/floppy valves, particularly the mitral valve, are another cardiovascular complication of Marfan syndrome.
MarFact #8: Marfan syndrome can also affect the ocular system. Most commonly a person could have severe nearsightedness, lens dislocation or retinal detachment. 60% of people with Marfan have lens dislocation and although it most commonly occurs in young children, it can happen at any age. However, early glaucoma, early cataracts, strabismus, amblyopia ("lazy eye"), and astigmatism are also associated with the syndrome. #MarfanSyndromeAwareness
MarFact #9: And now, a hodgepodge of the other body systems! Marfan syndrome affects the skin. Stretch marks without significant weight gain is a symptom and they tend to appear in unusual places, like the shoulder blades. Marfan affects the nervous system, in that about 60% of people with Marfan can develop dural ectasia, a widening of the sac that protects the spinal cord. Many with it may be asymptomatic but dural ectasia can cause debilitating headaches when there is a tear in the sac (leading to a cerebral spinal fluid leak). Other issues associated with dural ectasia can include pain, numbness, and incontinence. Finally, research is ongoing to determine the effects of Marfan on the GI system. #MarfanAwareness
Marfact #10: What do we hope to accomplish sharing these facts each February? Well, my hope is that by sharing, if you recognize the symptoms of Marfan syndrome in yourself or a loved one, you’ll take the steps towards getting evaluated. I was lucky enough that due to my Mom sensing that *something* was wrong, she insisted that the pediatrician figure out and he then recognized the signs.
Marfact #11: Marfan syndrome was first described by a French pediatrician, Antoine Bernard-Jean Marfan, in 1896. He had a 5 year old patient, Gabrielle, who had long limbs, poor muscle tone, and a curved spine. Bonus fact: it’s now believed that Gabrielle might actually not have had Marfan as we define it today, but instead a related disorder called congenital contractural arachnodactyly (also known as Beals syndrome). #MarfanAwareness
Marfact #12: Did you know many people with Marfan syndrome have dental issues? These can include a high arch palate, narrow upper jaw, and TMJ. It's recommended that kids with Marfan see an orthodontist around 7 years of age. Patients with mitral valve prolapse or an artificial heart valve should take antibiotics prior to dental work to guard against endocarditis. #MarfanAwareness
MarFact #13: Marfan syndrome is an autosomal dominant disorder. This means that it's a chromosomal change on a non-sex chromosome, and that if you have a known change to the gene, you have Marfan syndrome (for the sake of keeping it simple we're not going into benign changes and related disorders). However, because it's a syndrome, expression can vary widely, even within a family. When one parent is affected, each child they have has a 50% chance of inheriting Marfan syndrome. When both parents are affected, there is a 75% chance that a child will have Marfan (50% chance that the child inherits 1 change to the gene, 25% chance that they inherit both parents' changes). Chance doesn't remember, so it's not that half (or 75%) of your children will have Marfan, but that each individual has that % chance. #MarfanAwareness
Marfact #14: Family medical history is an important consideration when seeking a Marfan syndrome diagnosis. Even if Marfan has not previously been diagnosed in your family, look for parents or grandparents who died from a heart attack or an unexplained cardiac death before age 50. Come prepared to your geneticist appointment with other medical information too. Issues like cleft palate or clubbed feet in the family could point to a related disorder. It doesn't hurt to bring photographs of family members who won't be at the appointment, either. #MarfanAwareness
Marfact #15: Exercise, done properly, is important for people with Marfan syndrome. Exercise should be done in moderation (not to the point of exhaustion) and it's recommended that affected people stay away from contact sports and isometric activities. You can find more information at www.marfan.org/resource/fact-sheet/physical-activities-guidelines
Marfact #16: The Marfan Foundation (formerly National Marfan Foundation) was founded in 1981. They work to create a brighter future for those living with Marfan syndrome and related disorders. The Foundation does this through their 3 mission areas: support for those affected and their families, research for new treatments, and awareness.
Marfact #17: The Marfan Foundation both funds research into Marfan syndrome and related disorders, and helps connect researchers and patients for studies. If you're interested in participating in a research study, you can find those here: http://www.marfan.org/current-studies. Right now there are 4 studies looking for participants!
Marfact #18: Genetic testing exists for Marfan syndrome, and can be another tool in the diagnostic toolbox. However, there are limitations. Three disorders overlap on the FBN1 gene (Marfan, MASS Phenotype, and Ectopia Lentis syndrome), and genetic testing can not always distinguish between them. Clinical criteria can help differentiate. Also, many families have a change to the gene that is unique to them, so the first person in a family to be tested must have some symptoms before being tested, so that doctors know whether it's a disorder-causing mutation, vs a benign mutation. This is why the FBN1 test is not part of newborn screening panels. About 2-8% of people who *meet clinical criteria for a diagnosis* will test negative. Clinical criteria trumps the test result there. For those being tested for a family member's mutation, the "false negative" rate is less than 1%. When there is a known mutation in the family, embryos can be tested: there is no "too early" for testing.
While the role of genetic testing in diagnosing Marfan syndrome has expanded with the revised diagnostic criteria and genetic testing advances, clinical evaluation remains the mainstay in evaluating for Marfan syndrome. It is important to have genetic results interpreted by a knowledgeable geneticist.
For more information about genetic testing: http://www.marfan.org/…/genetic-testing-and-marfan-syndrome…
Marfact #19: The Marfan Foundation offers online resources especially for children and teens: The Teen Space and Kids Corner. The Teen Space is updated in conjunction with the Teen Council. The Kids Corner has fun games and videos for kids 12 years old and under. http://www.marfan.org/resources/patients/teens and http://www.marfan.org/resources/patients/kids
Marfact #20: The Marfan Foundation's first chapters opened in 1983, in California and New York. Now we have chapters and/or network groups in almost every state!
Marfact #21: Pregnant women who have Marfan syndrome are considered high risk. When possible, women should discuss pregnancy with their doctor prior to becoming pregnant, as there may need to be medication adjustments (for example, ARBs, a common class of drug used to treat the aorta, are not safe for pregnancy), or it may be wise to have aortic surgery done preventatively, depending on the wise of the woman's aorta. Women should have echoes at least once a trimester during pregnancy, shortly after delivery, and again about a month postpartum. Risk of aortic dissection is minimal when the aortic root is under 4 cm, and increases proportionally to the size of the aorta. Women with Marfan are not at a greater risk for miscarriage. As far as method of delivery, the risk is the same for women with an aorta under 4 cm, whether they have a controlled vaginal delivery or a c-section. Further research is needed to determine the best method for women over 4 cm, though it's thought that c-sections are less risky.
More information about pregnancy can be found here: http://www.marfan.org/…/fact…/family-planning-and-pregnancy…
MarFact #22: The Marfan Foundation has tools for medical professionals. The newest is the Marfan Dx app, which can help medical professionals diagnose Marfan and related disorders. It's available from the app store for iPhones, or they can go to www.marfandx.org. Share this with the med pros in your life!
Marfact #23: If you suspect that you or a loved one may have Marfan syndrome or a related disorder, the first thing to do is find a doctor who is knowledgeable about the condition. Ideally, look for a connective tissue disorders clinic, or a medical geneticist. Another option is to start with a cardiologist (heart doctor). The Marfan Foundation has a list of clinics who self-report a specialty in diagnosing and treating Marfan syndrome and other connective tissue disorders: http://www.marfan.org/resources/patients/find-doctor. If you don't find a clinic near you, contact the Foundation's support center, and they may have other suggestions for you. (Conversely, if you've found a local doctor(s) who have knowledge of CTDs, please let the support center know so they can pass these names on to other families.)
Marfact #24: Let's talk some disorders that are related to Marfan syndrome. First up, Loeys-Dietz syndrome. This was discovered in 2005, and many people with it were originally diagnosed as having Marfan. Because it's so new, and because so many people with it may think they have Marfan syndrome, it's hard to have accurate numbers on how prevalent it is. There are 5 types, the last of which was discovered last year. Features of LDS that differ from Marfan include: widely spaced eyes, other heart defects at birth, wide or split uvula, cleft palate, c-spine instability, translucent/velvety skin, significant food allergies and GI issues, clubbed foot, and craniosynostosis. But, like with Marfan, some have fewer outward features than others. They do not typically have lens dislocation, retinal detachment, or some of the lung issues that are seen in Marfan. Patients with LDS tend to have aortic dissections at earlier aortic diameters than Marfan patients, which is a reason that a timely and accurate diagnosis is vital. You can find more information on LDS at http://www.marfan.org/loeys-dietz and there is a special Loeys-Dietz track at The Marfan Foundation annual conference.
Marfact #25: Continuing with related disorders, today we'll talk Ehlers-Danlos syndrome. It is due to defects in collagen. There are multiple forms of EDS, with hypermobile type being the most common. Vascular-EDS and kyphoscoliosis-EDS can have life-threatening complications. You can find out some more about hypermobile and vascular EDS here: http://www.marfan.org/ehlers-danlos
Marfact #26: Other related disorders include MASS Phenotype (also on FBN1 gene, looks like Marfan but without aortic aneurysms or lens/retina problems), Ectopia Lentis syndrome (also on FBN1 gene, looks like Marfan but without aortic aneurysms), Beals syndrome (joint contractures are a hallmark), Familial Aortic Aneurysm, Stickler syndrome, bicuspid aortic valve, and Shprintzen-Goldberg syndrome. For more information on all of these, go to: http://www.marfan.org/about/related-disorders
Marfact #27: Do you know the 5 Ps of aortic dissection? They are pain, pallor (paleness), pulselessness (difficulty finding a pulse), paralysis, and parathesia (a tingling sensation, like when your foot falls asleep). Not all of these have to be present! A sense of impending doom is another common symptom of dissection. If you have Marfan syndrome or a related aortic disorder, make sure the ER rules out dissection with an echo, TEE, MRI, or CT scan: whichever can be done the most quickly and be expertly read. More information on how to advocate for yourself or a loved one during a possible cardiac emergency can be found here: http://www.marfan.org/expectations/treatment/emergencies
Marfact #28: Let's talk famous Marfs! Peter Mayhew and Vincent Schiavelli are both actors with Marfan. #MarfanAwareness
MarFact #29: I hope that you've all learned something this month! If anything you've read makes you pause, please contact The Marfan Foundation! Their website is marfan.org and their phone number is 1-800-8-MARFAN. #MarfanAwareness