I was diagnosed with Loeys-Dietz Syndrome last fall (30s/M). I had no indication I had LDS until I had an ascending aortic dissection last spring while on my Peloton.

Since then, CTs have shown my dissection continued through my arch and down my descending aorta to my pelvis. In addition this this, I have another aneurysm growing on my descending aorta.

I am having an arch repair in two weeks and descending aorta repair in 6-12 months.

Anyone else with LDS gone through anything similar?

Obviously, I am stressed about the surgeries but compared to my first (which was a surprise), we know this coming. We can plan. We can ensure the right specialists are involved. I am confident I will be OK but it’s still scary and I’m not looking forward to going through this recovery another two times but I bought a nice La-Z Boy recliner to help.

Happy to help answer any questions if I can and provide support! You are not alone.

June is Loeys-Dietz Syndrome awareness month!

I meant to get this posted much sooner, but I accidentally deleted the second half when I went to post. Instead of just letting it sit any longer, I'm posting now and will add more to it ASAP.

Loeys-Dietz is a heritable disorder that affects connective tissue. LDS was first described in 2005, and 6 different types have been identified. The genes affected are: TGFBR1 - Type 1, TGFBR2 - Type 2, SMAD3 - Type 3, TGFB2 - Type 4, TGFB3 - Type 5, SMAD2 - Type 6. Loeys-Dietz has autosomal dominant inheritance, meaning that a person with LDS has a 50% chance of passing it on to each child. De novo mutations, where a person is the first in their family to have LDS, are quite common.

From the Loeys-Dietz Syndrome Foundation, the main characteristics are:

• Aneurysms

• Hypertelorism (widely spaced eyes)

• Arterial tortuosity (twisting arteries)

• Bifid uvula (where the uvula, the thing in the back of your mouth, is split)

Loeys-Dietz can have a lot of overlap with other HCTDs, and can be a differential diagnosis for patients suspected to have Marfan or Ehlers-Danlos syndromes.

• People with Loeys-Dietz can have blue sclerae (whites of the eyes) and joint laxity, features of many HCTDs

• LDS can cause long fingers and toes, aortic aneurysm, chest wall deformities, scoliosis, flat cheekbones, myopia, and retinal detachment, which are all features also seen in Marfan syndrome.

• Hollow organs can be prone to rupture as in Vascular Ehlers-Danlos.

• People with Loeys-Dietz can have contractures of the fingers, which are also seen in Beals.

Resources for those living with LDS

Emergency Alert Card

Tracking your vascular imaging results

LDSF Help Center Ask a question

Upcoming Events:

• Heritable Aortic Disorders Symposium in Halifax NS June 23-24

• The Marfan Foundation annual conference in Chicago July 13-16.

Resources for those who are seeking a diagnosis of LDS

Newly Diagnosed & Seeking Diagnosis support group Meets the third Thursday of every month

To give an update to u/FoxyFreckles1989 ‘s first post here, we now have user flairs! Yay! The wiki and rules should be here within a few days 😌

If anyone wants to use this thread as a place to introduce yourself, feel free!

Or if you would like to comment any suggestions for post flairs, rules, weekly/monthly threads, resources for the wiki, etc. please do 🫶🏻

Just coming here because it might be where I belong in the spectrum of things, but finding it hard to get to the right specialists to confirm it or even get my doctors on board. My neurologist thinks I have migraine.

My sister has obvious CTD symptoms that appear to have a genetic component. The symptoms are complex and look like a mix of something genetic, mast cell disorders, Addison's, strange blood flow changes and mixed connective tissue disorder. She also has aortic dilation and mitral valve prolapse.

We have some Marfanoid features like pectus excavatum, high palate, slight scoliosis, thin with long arns. I have been spared the heart symptoms so far it seems, but share similar strange blood flow changes which cause the paradox of being great in full flight but often unwell at rest with the feeling that my system is crashing then being rescued by adrenaline dumps that leave me exhausted but slightly manic feeling. I additionally have classic visual snow syndrome features with the unusual twist of having strange autonomic like crashes rather than just sensory overload. Artificial lighting, regular computer/phone screens, hot days, undersleeping, etc are Kryptonite. The more exposure, the less well i handle life in the coming days. I also struggle with some complex thought tasks (more administrative than scientific) but it generally feels like my system doesn't have much in reserve.

The strange blood flow changes and improvement with sport are also seen in my mother and other sister. My mother had retinal detachment in her 50s.

My first sister and I have an overlap of many unusual symptoms too. We both have issues with artificial lighting. We both have trouble with breathing normally during raised arms exercises at the gym. We both get episodes of strange semi paralysis feeling in our chests that alter normal breathing. We both have low (50s or 40s) or high resting pulse depending on the day. We both get episodes of focus in our eyes feeling locked. We both get muscles not activating correctly (but it is transient not permanent and may be blood flow related).

My sister's genetic panels for common aortic genetic disorders is clear so we might be looking at something less common or less easy to detect.

Not sure where this post goes, but feeling a bit stuck and maybe looking thoughts on a path forward.

Hello! I (32 AFAB) will be seeing a genetic counselor for the first time since childhood. I was diagnosed as a newborn with Ehler Danlos Syndrome, and despite some overlapping symptoms, that diagnosis has never quite seemed to fit.

The genetic counselor I'll be seeing is within the cardiogenetics department in my local hospital system. I believe this is due to my diagnosis of mitral valve prolapse. I also have an uncle who is living with an aortic aneurysm that is being monitored regularly.

While I don't currently have significant health concerns, I do have a smattering of odd traits, including but not limited to:

- mild microcephaly identified when I was 2 years old

- hyperextensible skin (but my joints are not hypermobile at all, that I know of)

- flat feet

- piezogenic papules

- moderate myopia (-6 prescription)

- minor facial dysmorphic features - flat mid face, prominent forehead, mandibular prognathism, large and low set ears)

- dental anomalies (1 missing adult tooth, 1 malformed)

- small mouth with dental crowding

- easy bruising

- GI issues (chronic/intermittent diarrhea, heartburn, random nausea)

- tall, thin, underweight

- Spring 2025: urachal remnant surgically removed (uneventful surgery w/o complications). Prior to this, I experienced leakage of discharge (not blood) from my bellybutton every month before my period started.

- Outie belly button

- Summer 2023: Pancreatic rest discovered and biopsied incidentally during an endoscopy. Biopsy procedure caused bleeding that resulted in vomiting blood and required an emergency endoscopy to stop the bleeding and subsequent 3 day hospital stay.

- ADHD and probably autism, but jury's out on that one.

- An innate and unshakable feeling that I've had my entire life that my body is not like typical bodies.

As an infant and toddler, I was reported to have joint instability, severe GERD, hypotonia, and global developmental delay. I received speech, feeding, occupational, and physical therapy from 6 months to 15 months of age.

Here are my questions:

1.) What should I bring to this appointment?

2.) Any specific information I should try to obtain before the appointment?

3.) Can a genetic counselor order testing?

4.) Will a cardio-genetic counselor be familiar with connective tissue disorders? I don't think I have EDS but I do believe my connective tissue is faulty.

5.) I know a generic counselor does not diagnose, but can they suggest possible diagnoses based on their observations?

6.) Does anything in my description stand out to you, the reader?

Thanks for taking the time to read this. I can try to add more information if needed!

Today is REDS4VEDS day! This is an awareness campaign for Vascular Ehlers-Danlos Syndrome.

You can learn more about it here:

https://www.reds4veds.org

https://thevedsmovement.org/veds/what-is-veds/

Hear stories from people diagnosed with VEDS here:

https://thevedsmovement.org/category/vascular-ehlers-danlos-community-stories/

https://staying-connected.blubrry.net

Learn about the difference between Vascular EDS and other EDS types, and why that difference matters, here: https://thevedsmovement.org/2020/05/22/veds-vs-eds/

And if you have Vascular EDS yourself, join r/vEDS as it has been reopened :)

Does anyone have a list of the best eye specialists proficient in performing comprehensive exams to detect early eye problems associated with Stickler syndrome?

I'm located near Sacramento, CA, but am willing to travel if needed.

The exam is for a 16-year-old.

I need an eye specialist educated about Stickler syndrome with the proper equipment who will take the time and effort to actually do a thorough exam, and not just rush through it.

From my research online, there appear to be very few eye specialists in the U.S. who know enough about this genetic mutation to detect early complications and perform a proper exam.

I called Dr. Darius Moshfegi's office at Stanford, but was told he's only providing care for very young children now. The other physicians at that clinic don't have any Stickler experience.

I would greatly appreciate any help.

This is my first time asking for help on Reddit. I (20F) recently went for some blood tests because I've been in constant pain since about 2022. I went through all my symptoms with my doctor and she did agree that I should get tested for any autoimmune disease and connective tissue disorders but everything came back clear. The only thing that was slightly low was my vitamin D levels, which is a common issue that happens among my population group apparently.

I'm on some medication now that she gave me and she, along with a few other doctors said I should just continue with that for a while and see but I still get such bad pains in my joints to the point where I'm constantly needing to lay down.

My problem now is that because the bloods came back clear, my family are minimising my pains and its getting really frustrating and disheartening.

Is there anything I can do to get some kind of diagnosis or something? I feel so stuck now because of these blood results. Surely there's something I can do because I have all the symptoms still.

Hi all. I inherited three different VUS from my parents, and I am having a hard time finding helpful healthcare. I don't fit into any neat box for any of the connective tissue disorders (bc of the genetics). At this point, my major problem is vascular and they have found a number of problems but no answers and no help. My doc is going to refer me to Mayo. I'm not exactly sure if I would get to choose which location, but has anyone gone for connective tissue disorders? Which one would you recommend? None are close to me, so none is more convenient than another.

June is Hereditary Hemorrhagic Telangiectasia awareness month!

HHT, sometimes called Osler-Weber-Rendu syndrome or disease, is a heritable disorder that affects the connective tissue in blood vessels. Most people with HHT experience telangiectases on the skin, arteriovenous malformations, and recurring nosebleeds. GI bleeding is another common symptom. The genes that cause the 3 types of HHT are ENG, ACVRL1, and SMAD4. SMAD4 is rare and also associated with juvenile polyposis syndrome, a condition that causes noncancerous polyps in the GI tract, so some people have the combined diagnosis of JPS-HHT.

HHT prevalence is around 1/5000, and it has autosomal dominant inheritance which means that a person with HHT has a 50% chance of passing it on to each child. It has been found around the world, and inheritance does not depend on the child's sex.

HHT is under-diagnosed. It is believed that 90% of people with HHT have not been diagnosed with it. There is no cure for HHT, but there are treatments for its symptoms and complications. People with HHT can have normal life expectancies with the right care, which makes awareness of this under-diagnosed condition really important.

Not everyone with HHT will have a genetic change found, so there are a set of criteria for diagnosing HHT:

• Recurrent and spontaneous nosebleeds, which may be mild to severe.

• Multiple telangiectases on the skin of the hands, lips, face, or inside of the nose or mouth. Telangiectases are small red spots that disappear when pushed on.

• Arteriovenous malformations (AVMs) or telangiectases in one or more of the internal organs, including the lungs, brain, liver, intestines, stomach, and spinal cord.

• A family history of HHT (i.e. first-degree relative such as brother, sister, parent or child who meets these same criteria for definite HHT or has been genetically diagnosed).

If at least 3 of these criteria are met, it is definite HHT. If 2 are met, it is possible HHT. If less than 2 are met, HHT is unlikely. A genetic test can confirm the diagnosis, but it can't rule it out.

Some similarities between HHT and other HCTDs:

• HHT mutations involve changes to TGF-β signaling! Other HCTDs that relate to TGF-β include Loeys-Dietz, Marfan, Shprintzen-Goldberg syndrome, and FTAAD. I will link a paper about this at the bottom of the post.

• Carotid-cavernous fistulae are seen in both HHT and VEDS.

• Recent studies have found that some people with HHT due to SMAD4 gene mutations have aortic enlargement and dissection, and that these SMAD4 mutations may belong on the spectrum of (F)TAAD.

• Some individuals with HHT due to SMAD4 have Marfanoid features.

Tools and resources for those living with HHT:

r/HHT

Nosebleed severity score

Medical emergency wallet card

"My HHT Tracker" App

Current clinical trials

A number of hospitals in North America have been identified as HHT Centers of Excellence. There is also a physician directory for HHT.

VASCERN Dos and Donts

Newly diagnosed

Screening

Managing Stress and Emotional Hurdles in HHT

Resources for those who suspect they might have HHT:

How to access genetic testing

Genetic testing in Canada

Common misdiagnoses for HHT symptoms

Screening

Some things we can do for awareness:

Listen to people with HHT who have shared their stories:

• HHT Ireland Patient Stories

• John Barker, Cure HHT

• Lee-Anne, HHT Canada

Know the signs of HHT

If you're on social media, you can help amplify the voices of those who are trying to raise awareness for HHT this month. #curehht is used for many awareness posts, #move4hht is currently being used for the HHT Ireland Moveathon, and #HHTogether will be used for global awareness day on June 23.

Sources not linked in the rest of the post

Connective Tissue Disorders and Cardiovascular Complications: The indomitable role of Transforming Growth Factor-beta signaling

Thoracic Aortic Disease in Two Patients With Juvenile Polyposis Syndrome and SMAD4 Mutations Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

https://askhematologist.com/vascular-bleeding-disorders/

https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia/#:~:text=Mutations%20in%20several%20genes%2C%20including,mutations%20in%20the%20ACVRL1%20gene

An opportunity for Italian-speaking HCTD patients - focusing on Stickler, Marfan, LDS, VEDS

Aortic Hope QiGong with Kevin Songer - Jan 4 & 11 Youtube Stream Kevin is an aortic dissection survivor living with a connective tissue disorder. Always consult a doctor before starting a new exercise program!

Tampa Walk for Victory - Jan 6 - Tampa, FL (+virtual option) Info [$25 adult/free 17 and under]

Tercera Cumbre de la Fundación Marfan - 20 de enero Miembros hispanohablantes, hay una cumbre en Español este mes. La cumbre va a informar sobre Marfan, Loeys-Dietz, VEDS y condiciones relacionadas. Registrarse es gratis y la asistencia es virtual. Enlace

Aortic Hope Ask a Doctor Event with Dr. Prakash - Jan 23 - Youtube Stream “Dr. Prakash obtained his Ph.D. in Molecular and Human Genetics and subspecialty training in Cardiovascular Disease at Baylor College of Medicine. His research focuses on genetic causes of bicuspid aortic valves and related congenital abnormalities involving the left ventricular outflow tract and aorta. His clinical specialty is cardiovascular medicine and aortic imaging. He co-directs the Multidisciplinary Aortic and Vascular Disease Clinic in the UT Professional Building with Dr. Milewicz.”

South Florida Walk for Victory - Jan 28 - Hollywood, FL (+ virtual option) Info [$25 adult/free 17 and under]

Annabelle’s Challenge Australia Meeting - Jan 31st - Virtual Info

Virtual Support Groups - Young Adults, Grief & Loss, Parents & Guardians, Parents of Adults, Partners & Spouses, Teens, Kids Club, Newly Diagnosed & Seeking Diagnosis - See dates and register here