Genetic Aspects of Vascular Malformations
#CapillaryMalformation GNAQ GNA11 PIK3CA PIK3R1
#CCM KRIT1 CCM2 PDCD10 MAP3K3
#VenousMalformation TEK PIK3CA MAP3K3 GLMN
#AVM KRAS MAP2K1 BRAF HRAS RIT1
#HHT ENG ALK1 GDF2 SMAD4
#LymphaticMalformation
#PresseMed 2025
www.sciencedirect.com/science/arti...
Rare Disease Day is February 28.
#PH is often associated with other rare diseases such as #scleroderma, #HHT, idiopathic #pulmonaryfibrosis, #sicklecell disease and #lupus.
Raising awareness, improving diagnosis and ensuring access to care can save lives. Learn more: buff.ly/8TU8sC5
New patient information page published online first on hereditary hemorrhagic telangiectasia (HHT).
#HHT #vascular #malformation
Free download: doi.org/10.1177/1358...
📢 A new study confirms the “second-hit” model in Hereditary Haemorrhagic Telangiectasia ( #HHT): Multiple lesion-specific ACVRL1 mutations were found in one patient, supporting the somatic mutation-driven formation of telangiectasias and AVMs 🧬 #VascularBiology #EJHG
www.nature.com/articles/s41...
Join Cure HTT for their upcoming 2025 Patient & Physician National Conference, Nov. 8-9, in Dallas.
This two-day event brings together patients, caregivers and clinicians to explore breakthroughs in #HHT research and care.
Register today: buff.ly/0FJdTw2
⛓️💥 This case report presents a patient with hereditary hemorrhagic telangiectasia (HHT). The anesthetic avoided neuraxial and general anesthesia, reducing the risk of bleeding and hemodynamic instability.
📍 Read in full: bit.ly/HHT-anesthesia
#journalPAR #OpenAccess #CaseReport #HHT #anesthesiology
Did you know chronic nosebleeds + GI bleeding could point to something more serious? 👃🩸
Test your knowledge on HHT with diagnosis, AVMs, and management tips that stick.
Missed it? Catch the most recent episode for more info at 🔗 in bio.
#HemeTalks #Microlearning #HHT #ASHEducation #medicalpodcast
In the latest episode of PH Insights, Jenna Olitsky, a patient living with #PAH and #HHT, shares five key tips to help make summer travel easier and more accessible.
Listen now: buff.ly/j8EDYcC
On a new episode of PH Insights, Scott Olitsky, Cure HHT’s Global Center of Excellence outreach director, leads a discussion about the connection between #PH and #HHT.
Scott is joined by two patients who share their experiences navigating life with both conditions.
Listen now: buff.ly/RhPvmsZ
Ayer 23 de junio, se celebró el Día Mundial de la HHT, una enfermedad rara hereditaria💉La investigación 🔬y el diagnóstico precoz son clave para mejorar la calidad de vida. #HHT #EnfermedadesRaras #InvestigaciónHHT @csic.es
Tenéis más info en:
www.asociacionhht.org/2025/06/21/2...
Este proyecto está coordinado por David Barberá de @ingeniocsicupv.bsky.social y en esta ocasión con la colaboración de Luisa M. Botella de @cib-csic.bsky.social
¡Muchas gracias a #HHT_Spain por su colaboración en este proyecto! 💙
#CienciaCiudadana #HHT #EnfermedadesRaras #InvestigaciónColaborativa
¡Y enhorabuena también a Luisa María Botella del @cib-csic.bsky.social ! Que también ha conseguido una ayuda de investigación de #FEDER_ONG sobre #HHT 👏👏
@csic.es
🗣️“Even though a cure doesn’t exist, I believe one day HHT will be a disease to remember not one to fear.”
At the recent Based on Evidence #European meeting, experts came together to share evidence-based ways to improve #HHT care across #Europe.
Read more ➡️ bit.ly/3HmPMbr
📅 El 5 de junio se celebra en el Hospital Ramón y Cajal la III Jornada HHT España para Investigadores y Clínicos.
Un encuentro técnico abierto también a pacientes, para compartir avances en #HHT.
🔗 Más info:
www.asociacionhht.org/2025/03/26/i...
#HHT_Spain #FEDER_ONG @csic.es
Liver involvement in HHT is more common than you might think. While many cases are asymptomatic, complications can include #heart failure & portal #hypertension.
This review outlines diagnosis & treatment options ➡️ onlinelibrary.wiley.com/doi/10.1111/...
#HHT #RareDiseases #ResearchHighlight
La hematóloga solicitó un análisis genético, confirmando efectivamente la mutación en uno de los genes involucrados en la enfermedad #HHT.
www.asociacionhht.org/genetica/
No fue hasta que un familiar fue ingresado por anemia severa, en 2016, por la cual que tuvo que recibir transfusiones de sangre, que una hematóloga consideró la posibilidad de que se tratara de #HHT.
Yo comentaba que muy normal, esto no debía ser. Empezamos, mirando por Internet, a intuir que tal vez podría ser #HHT, pero ningún médico, otorrino o hematólogo, tanto de la sanidad pública como privada, consideraba este posible diagnóstico.
Hoy es el día mundial de las enfermedades raras #28F, y quiero rescatar el hilo de @mpericacho.bsky.social sobre la Telangiectasia Hemorrágica Hereditaria (HHT), para contar mi experiencia como cuidador en mi familia, con varios miembros afectados. #enfermedadesraras #hht #renduosler
🧵 Hilo
Today is Rare Disease Day! Over 25 million people in the U.S. and 300 million worldwide are affected by a rare disease. #Pulmonaryhypertension is often associated with other #rarediseases such as #scleroderma, #HHT, #pulmonaryfibrosis, #sicklecelldisease and more. buff.ly/2FCyHGs #RareDiseaseDay
Happy to have played a small part in this nice story on our old friend #endoglin !
Thrombin cleaves membrane-bound endoglin potentially contributing to the heterogeneity of circulating endoglin in preeclampsia
www.nature.com/articles/s42...
#ENG #preeclampsia #HHT
Rare Disease Day is Feb. 28! #Pulmonaryhypertension is often associated with other rare diseases such as #scleroderma, #HHT, idiopathic #pulmonaryfibrosis, #sicklecelldisease and more. Learn more about how to get involved on #RareDiseaseDay.
We paint a lot around here. What’s hanging on your shop walls? #toxicavenger #toxie #troma #tattoos #tattoo #flash #tattooflash
#hht #heartlessandhopelesstattoo
is #HHT on bluesky🗣️
Voy a contar un poco en qué consiste la enfermedad en la que se centra mi línea de investigación desde hace años: la Telangiectasia Hemorrágica Hereditaria (HHT), también conocida como Síndrome de Rendú-Osler-Weber.
#HHT #renduosler
ABRO HILO
#HHT wya??
Where are stan twitter and Hip Hop twitter at? I need mutualsss #stantwitter #hht #tylerthecreator #sza #travisscott #billieeilish #mariahthescientist
Any #HHT mutuals on here?
