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Home - News and Events - News - Key Takeaways from the BEE Meeting 2025 on Hereditary Haemorrhagic Telangiectasia

May 29 2025

Key Takeaways from the BEE Meeting 2025 on Hereditary Haemorrhagic Telangiectasia

The BEE Meeting 2025 — Based on Evidence European Meeting took place on May 23, 2025 in the historic city of Crema, Italy.

Organized by VASCERN with support from the HHT Italian patient organisation, Associazione Fondazione Italiana HHT ”Onilde Carini” APS, this meeting focused on Hereditary Hemorrhagic Telangiectasia (HHT), gathering Europe’s top experts, healthcare professionals, and patients for a powerful day of education and collaboration. The meeting’s emphasis was clear: clinical management must be rooted in evidence. Sharing best practices across borders helps unify care and reduce misdiagnosis and treatment delays.

The meeting began with a presentation by Treasure Udechukwu, VASCERN’s Communication and Patient Engagament Officer. Her presentation introduced VASCERN as one of 24 European Reference Networks (ERNs), supported by the EU since 2017, to improve the diagnosis and management of rare multisystemic vascular diseases.

She highlighted that VASCERN brings together 48 expert centres across 19 countries, including 39 hospitals and over 30 patient advocates. The VASCERN HHT Working Group (HHT-WG), composed of experts from seven EU countries, leads numerous initiatives: from the Clinical Patient Management System (CPMS) to Do’s & Don’ts factsheets, Pills of Knowledge video content, and an HHT eLearning course.

Her remarks set the tone for a day focused on structured, patient-informed, and evidence-based approaches to HHT care.

Diagnosis and Genetics in HHT

HHT is a rare vascular disease characterised by abnormal blood vessel formations (telangiectases and arteriovenous malformations, or AVMs) in areas such as the nose, lungs, liver, brain, and gastrointestinal tract. It affects approximately 1 in 5,000–8,000 people globally. Most individuals experience recurrent nosebleeds (epistaxis) and iron deficiency anaemia by early adulthood.

Elisabetta Buscarini reaffirmed diagnosis of HHT remains guided by the Curaçao criteria, which include recurrent spontaneous epistaxis, visible telangiectases, AVMs in critical organs (lung, liver, brain), and a family history. Pathogenic variants in two genes, ENG and ACVRL1, account for up 90% of cases, with SMAD4 and GDF2 implicated in rare cases.

Sophie Dupuis-Girod elaborated on the role of genetics in refining both diagnosis and management. She emphasised that early genetic testing is critical—not just for diagnosis, but for identifying AVM risk profiles, guiding family screening, and supporting prenatal planning.

Patient Perspectives: The Italian Experience

In a particularly powerful session, Giuseppe Regalia, President of the HHT Italian patient organisation shared the stories of patients living with HHT in Italy. Their stories revealed the complexity of daily life and echoed similar themes: the fear of bleeding in public, the exhaustion from iron loss, and the years lost before receiving a proper diagnosis. Many reported fragmented care and significant emotional distress due to unpredictable symptoms. The call from the patients was clear: “Build bridges between patients and HHT expert centres, and never give up but keep fighting”.

Management of HHT Symptoms

Epistaxis (Nosebleeds)

Epistaxis remains the most common presenting symptom. By age 21, over 80% of HHT patients will experience recurrent nosebleeds and telangiectases. Urban Geisthoff and Freya Droege presented a stepwise treatment pyramid beginning with:

First-line: Topical saline or nasal ointments
Second-line: Tranexamic acid
Third-line: Ablative therapies (laser, sclerotherapy, radiofrequency)
Fourth line: Systemic therapies (systemic anti-angiogenic agents)
Final step: Surgical options such as septodermoplasty or nasal closure for severe cases

For acute bleeds: nasal compressions, resorbable or self-lubricating low-pressure pneumatic packing. The speakers emphasised the need to tailor approaches based on bleeding severity and patient preference.

Pulmonary AVMs (PAVMs)

Hans-Jurgen Mager provided an in-depth presentation on pulmonary arteriovenous malformations (PAVMs). These occur in 50% to 70% of individuals with ENG mutations and in 20% to 30% of those with ACVRL1 mutations. Although often asymptomatic, PAVMs can lead to serious complications such as cerebral infarction, ischaemic stroke, and brain abscess.

Recommended management includes:

Initial screening with transthoracic contrast echocardiography (TTCE), followed by a CT thorax if the TTCE is abnormal.
PAVM embolisation (a procedure to block abnormal blood vessels) if the feeding artery is >2–3 mm
Maintaining good dental hygiene and using prophylatic antibiotics before dental, endoscopic, surgical and other interventional procedures.
Follow up after embolisation at 6 months with TTCE or CT Thorax.

Hepatic AVMs

Guido Manfredi discussed hepatic AVMs, noting that approximately 41–71% of HHT patients—predominantly those with HHT Type 2—develop liver vascular malformations. Key complications are high output cardiac failure (HOHF) and portal hypertension. He recommended Doppler ultrasonography as a suitable first-line imaging modality. The Buscarini Classification was reaffirmed for grading severity, with Grade IV associated with complications.

Treatment options such as orthotopic liver transplantation (OLT) or bevacizumab offer promising outcomes but caution should be taken when using them. Orthotopic liver transplantation (OLT) was found to have excellent outcomes in patients under 65 years of age. Importantly, clinical decisions regarding treatment of hepatic AVMs must always involve an HHT specialist team.

Pulmonary Hypertension and Right Heart Failure

Michela Flini presented on cardiac complications. Pulmonary hypertension (PH) in HHT may result from secondary heart failure, vascular remodeling, and rare chronic thromboembolic form. Treatments include: pulmonary vasodilators, supportive therapy, and lung transplantation.

In contrast, HOHF due to liver AVMs is characterized by elevated cardiac output and decreased systemic resistance. Treatment includes supportive care and OLT.

Atrial fibrillation (AF) was discussed, including managing the balance between haemorrhagic and thrombotic risks, and new role for percutaneous closure of the left auricle in certain patients.

Diagnostic test for these complications are echocardiograms and right heart catheterisation.

Neurological Manifestations

Omer Eker covered the neurological implications of HHT:

PAVMs can lead to stroke, migraine, and brain abscess
Hepatic AVMs were linked with basal ganglia manganese-induced lesions leading to motor and neurocognitive impairments
Cerebral AVMs carry a low hemorrhagic risk (approx. 1% per year)

Another interesting point: Iron deficiency anemia may contribute to ischemic strokes and basal ganglia manganese-induced lesions.

Gastrointestinal Bleeding

Roberto Berté highlighted that gastrointestinal (GI) bleeding is often under-recognised. It typically presents as anemia without overt symptoms. He recommended to suspect GI bleeding in cases where anemia doesn’t correlate with nosebleed frequency. Endoscopy allows for an accurate diagnosis and treatment. EGDs or AEDs with Argon Plasma Coagulation (APC) have shown to offer excellent long-term results. If bleeding involves the small bowel extensively, the use of medical therapy becomes necessary.

Anaemia

Pernille Darre Haahr reiterated that up to 50% of HHT patients experience anaemia. Even iron deficiency without anaemia can cause fatigue, headache, impaired neurocognitive function, and dyspnoea (shortness of breath). She recommended screening for iron deficiency in all HHT adults and symptomatic children, and also treating iron deficiency without anaemia.

The management protocol advised is starting with elemental iron (80–100 mg) for mild/moderate iron deficiency/iron deficiency and intravenous iron (preferably ferric derisomaltose when available for low hypophosphatemia risk) for severe iron deficiency/iron deficiency anaemia. Evaluation should be done at 4–6 weeks with full blood count and iron profile.

Systemic Treatments

There are no EMA or FDA-approved therapies specifically for HHT. However, Anette Kjeldsen summarised current use of repurposed drugs such as Bevacizumab, Thalidomide / Pomalidomide, and Pazopanib. She advised that there are no absolute general contraindications for any medical treatment but to individualize treatment based on patient-specific risks. HHT patients were generally found to tolerate anticoagulation, antiplatelet, and thrombolytic treatment therapy when indicated.

Specific Focus Areas

Pregnancy

It was made clear by Olivier Dupuis that HHT pregnancies are considered to be high risk, and as such, require close monitoring. Patients also need to be informed. He recommended the following to mitigate risks: comprehensive AVM screening prior to conception at an HHT expert centre; monthly anaemia checks; avoiding prolonged second-stage labour; antibiotic prophylaxis; and multidisciplinary care throughout pregnancy.

Children

Sophie Dupuis-Girod stressed that genetic counselling is essential. Children with one affected parent may undergo genetic testing. This can facilitate timely surveillance and intervention. It is vital to carry out regular monitoring for PAVMs and other AVMs, even in asymptomatic paediatric patients.

Psychological Aspects

Sylvie Fourdrinoy delivered a compelling presentation on HHT’s impact on quality of life (QoL). She introduced the QoL-HHT-24 tool, which captures patient-reported outcomes across emotional, social, and functional domains. Her message: QoL metrics should guide both treatment and support services, helping to surface burdens that aren’t visible on scans.