#HHT

European Journal of Human Genetics

3 weeks ago

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

5 0 0 0

Vascular Medicine

@vmj-svm.bsky.social

3 weeks ago

New patient information page published online first on hereditary hemorrhagic telangiectasia (HHT).

#HHT #vascular #malformation

Free download: doi.org/10.1177/1358...

0 0 0 0

@ejhg-journal.bsky.social

2 months ago

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia - European Journal of Human Genetics European Journal of Human Genetics - Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia

📢 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...

0 0 0 0

Perioperative Anesthesia Reports

4 months ago

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

0 0 0 0

@journalpar.bsky.social

5 months ago

⛓️‍💥 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

0 0 0 0

ASH Education

@ash.edu.hematology.org

7 months ago

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

4 0 0 0

8 months ago

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

1 0 0 0

8 months ago

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

0 0 0 0

23 DE JUNIO. DÍA MUNDIAL DE LA HHT – Asociación HHT España

8 months ago

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...

1 1 0 0

8 months ago

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

1 1 1 0

VASCERN | European Reference Network

8 months ago

¡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

1 1 0 0

@vascern.bsky.social

9 months ago

Key Takeaways From The BEE Meeting 2025 On Hereditary Haemorrhagic Telangiectasia | VASCERN Explore the key takeaways from the BEE Meeting 2025 on Hereditary Haemorrhagic Telangiectasia, with expert insights and evidence-based updates.

🗣️“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

0 0 0 0

III Jornada de la Asociación HHT España para investigadores y clínicos – Asociación HHT España

9 months ago

📅 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

2 2 0 0

VASCERN | European Reference Network

@vascern.bsky.social

11 months ago

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

3 0 0 0

Genética y HHT – Asociación HHT España

1 year ago

La hematóloga solicitó un análisis genético, confirmando efectivamente la mutación en uno de los genes involucrados en la enfermedad #HHT.

www.asociacionhht.org/genetica/

0 0 1 0

1 year ago

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.

0 0 1 0

1 year ago

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.

0 0 1 0

1 year ago

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

1 1 1 0

Thrombin cleaves membrane-bound endoglin potentially contributing to the heterogeneity of circulating endoglin in preeclampsia - Communications Biology Thrombin cleaves membrane-bound endoglin and soluble endoglin, releasing fragments of varying sizes; these findings emphasize the heterogeneity of sEng in preeclampsia, connecting endothelial dysfunct...

1 year ago

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

4 0 0 0

Luca Jovine

@jovinelab.org

1 year ago

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

2 3 1 1