Hemorrhagic telangiectasia is a condition where fragile, widened blood vessels sit close to the surface of the skin and lining tissues, making bleeding more likely. Many people first notice frequent nosebleeds or small red spots on the lips, tongue, fingers, or face. Others feel “fine” until an internal blood vessel connection causes a serious problem, such as low oxygen levels or a stroke.
This topic can feel confusing because the same condition can look mild in one person and complex in another—even within the same family. The good news is that targeted screening can find hidden risks early, and many symptoms (especially bleeding and anemia) are treatable with a stepwise plan. This guide explains what the condition is, why it happens, who is at risk, which symptoms deserve attention, how diagnosis works, and what treatment and day-to-day management typically involve.
Table of Contents
- What hemorrhagic telangiectasia does in the body
- Causes genetics and how it runs in families
- Symptoms from nosebleeds to organ involvement
- How its diagnosed and what screening includes
- Treatments that reduce bleeding and complications
- Management prevention and when to get urgent care
What hemorrhagic telangiectasia does in the body
In clinical practice, “hemorrhagic telangiectasia” most often refers to hereditary hemorrhagic telangiectasia (HHT), also called Osler–Weber–Rendu disease. The core issue is not “thin blood.” It is abnormal blood vessel structure. Instead of a normal artery-to-capillary-to-vein pathway, some vessels form fragile surface tangles (telangiectasias) or larger direct connections called arteriovenous malformations (AVMs).
Two vessel problems explain most symptoms
- Telangiectasias (small, superficial lesions): These are tiny widened vessels in the skin or mucosal lining (nose, mouth, gut). They can break easily, especially in dry air or with minor irritation. This is why nosebleeds are so common.
- AVMs (larger internal shunts): These are shortcuts between arteries and veins. They can appear in the lungs, brain, liver, and sometimes the spine. AVMs can bleed, but they can also cause harm simply by “rerouting” blood in risky ways.
Why this can be more than a bleeding disorder
People often assume the main danger is visible bleeding. In reality, internal AVMs can create silent risks:
- Lung AVMs can allow clots or bacteria to bypass the lung’s normal filtering system and travel to the brain. This raises the risk of stroke or brain abscess in some patients.
- Brain AVMs can bleed or irritate nearby tissue, sometimes causing headaches, seizures, or neurologic symptoms.
- Liver vascular malformations can create high-flow circulation that strains the heart, sometimes leading to high-output heart failure or bile duct problems.
Why severity varies so much
Even with the same diagnosis, the “mix” of lesions differs: one person may mainly have nosebleeds and iron deficiency, while another may have mild nosebleeds but a lung AVM that needs treatment. Severity also changes over time—nosebleeds and anemia often become more noticeable with age.
A practical takeaway: hemorrhagic telangiectasia is best understood as a multisystem blood vessel condition, not only a nosebleed problem. That is why screening and prevention are as important as treating today’s symptoms.
Causes genetics and how it runs in families
Hemorrhagic telangiectasia (HHT) is usually caused by an inherited change in genes that help blood vessels grow and repair themselves. The result is a lifelong tendency to form fragile surface vessels and, in some people, AVMs in internal organs.
Inheritance pattern and what it means for families
HHT typically follows an autosomal dominant pattern. In plain terms:
- A person with HHT has a 50% chance of passing it to each child.
- Men and women are affected equally.
- Symptoms can be very different among relatives, even when the same gene change is present.
Because visible telangiectasias and nosebleeds can start later, children may carry the condition before obvious signs appear. This is one reason families often benefit from structured screening, especially for lung and brain AVMs.
Common genes and “why the vessels misbehave”
Several genes are strongly linked to classic HHT. They are involved in signals that tell vessel-lining cells when to grow, when to stabilize, and how to form normal capillary networks. When these signals are disrupted, vessels may form direct artery-to-vein connections or fragile surface clusters that bleed easily.
Some gene patterns correlate with certain organ risks, but it is not a perfect prediction. Clinicians use genetics to support diagnosis and guide family testing, while still relying on screening tests to find each person’s actual anatomy.
Related syndromes that change screening needs
A small subset of patients have overlapping conditions that matter for long-term care. The best-known example is SMAD4-related disease, which can combine HHT features with juvenile polyposis (a tendency to develop many colon polyps). When that overlap is suspected or confirmed, screening expands to include gastrointestinal cancer prevention strategies in addition to AVM evaluation.
What does not “cause” HHT
HHT is not caused by lifestyle choices, diet, stress, or a single injury. However, everyday factors can strongly affect symptoms:
- Dry air, nasal irritation, and untreated allergies can worsen nosebleeds.
- Aspirin, non-steroidal anti-inflammatory drugs, and blood thinners can increase bleeding burden in some patients.
- Uncontrolled high blood pressure can make certain bleeding risks more dangerous.
A helpful way to explain cause versus trigger is this: genetics loads the gun, but environment and medical choices can influence how often it fires. The goal of care is to reduce triggers you can control while screening for internal risks you cannot “feel” until they become serious.
Symptoms from nosebleeds to organ involvement
Symptoms often start with bleeding that seems “annoying but manageable,” then slowly affects energy, sleep, and daily life. At the same time, some people develop internal AVM complications with few warning signs. Knowing the common patterns helps you take the right concerns seriously.
Most common symptoms people notice first
- Recurrent nosebleeds (epistaxis): Often the earliest sign. Bleeds may be brief and frequent, or less frequent but heavy. Triggers include dry air, nose picking, colds, allergy inflammation, and nasal sprays that dry the lining.
- Small red spots (telangiectasias): Often on the lips, tongue, face, fingertips, or inside the nose. They may blanch (fade) when pressed.
- Iron deficiency and anemia: Common over time, especially with frequent nosebleeds or gut bleeding. Symptoms include fatigue, exercise intolerance, shortness of breath with exertion, palpitations, headaches, and restless legs.
Gastrointestinal symptoms
Telangiectasias can form in the stomach or intestines and bleed slowly. Many people do not see visible blood. Clues include:
- Unexplained iron deficiency despite “not bleeding much”
- Black stools (sometimes) or positive stool blood tests
- Need for repeated iron infusions or transfusions
Symptoms that suggest lung, brain, or liver involvement
Internal AVMs may be silent, but the following should raise suspicion:
- Possible lung AVMs: low oxygen levels, shortness of breath out of proportion to fitness, migraines in some people, or a history of stroke-like symptoms without a clear cause. Some people have no symptoms until a complication occurs.
- Possible brain AVMs: seizures, sudden severe headache, new neurologic deficits (weakness, speech trouble, vision changes), or unexplained fainting. Many brain AVMs are found by screening before symptoms develop.
- Possible liver vascular malformations: signs of high-output heart strain (shortness of breath, swelling, rapid heartbeat), abdominal discomfort, abnormal liver tests, or symptoms of portal hypertension in advanced cases.
Complications that deserve extra attention
- Severe anemia affecting heart function and pregnancy safety
- Stroke or brain abscess risk in some people with untreated lung AVMs
- Serious bleeding events (less common than nosebleeds, but higher impact), including brain hemorrhage in the setting of certain brain vascular lesions
A practical tip: tracking matters. If you keep a simple log of nosebleed frequency, duration, and severity—plus iron labs and symptoms—your care team can match treatment intensity to the true burden rather than relying on memory during a rushed visit.
How its diagnosed and what screening includes
Diagnosis is based on a combination of clinical features, family history, and (when available) genetic testing. Screening then looks for internal AVMs that may not cause symptoms until they become dangerous.
Clinical diagnosis using the Curaçao criteria
Many clinicians use a four-part checklist. Diagnosis is more likely when multiple features are present:
- Recurrent spontaneous nosebleeds
- Multiple telangiectasias at typical sites (lips, mouth, fingers, nose)
- AVMs or telangiectasias in internal organs (lungs, brain, liver, gastrointestinal tract)
- A first-degree relative with the condition
People are often categorized as “definite,” “possible,” or “unlikely” based on how many criteria they meet. This is useful because not everyone has a clear picture early in life.
Genetic testing and family testing
Genetic testing can:
- Confirm the diagnosis when clinical signs are incomplete
- Identify the specific family variant, making it easier to test relatives
- Help guide screening decisions in children who may not yet have visible telangiectasias
A negative genetic test does not always exclude the diagnosis if clinical signs strongly fit, because not every genetic cause is detectable with standard panels.
What screening usually focuses on
The highest-yield screening aims to prevent sudden, high-impact complications:
- Lung AVM screening: often begins with a “bubble” echocardiogram (contrast echo) to detect abnormal right-to-left shunting, followed by chest imaging when needed.
- Brain vascular malformation screening: MRI is commonly used, especially in children and in adults when individualized risk-benefit favors screening.
- Anemia evaluation: periodic blood counts and iron studies help detect slow bleeding early.
- Liver evaluation: screening is often targeted to adults or to those with symptoms or signs of liver involvement, because liver vascular malformations can have important cardiac consequences.
How often do you repeat screening?
Rescreening intervals vary based on age, prior results, pregnancy plans, symptoms, and specialist recommendations. Many centers use a structured approach such as:
- Rescreening lung AVMs at intervals when prior screening was negative, especially around major life changes (like pregnancy planning)
- Individualized decisions for brain rescreening in adults, balancing benefit with the reality that new lesions are less common than in childhood
The best setting for diagnosis and screening is a coordinated team (often involving ENT, pulmonology, hematology, gastroenterology, and genetics). When care is fragmented, the risk is not only missed AVMs—it is duplicated tests or treatment plans that focus on nosebleeds while overlooking preventable internal complications.
Treatments that reduce bleeding and complications
Treatment is usually symptom-driven and stepwise. The goals are to reduce bleeding, correct iron deficiency, treat organ AVMs when indicated, and improve quality of life with the least invasive approach that works.
Nosebleed treatment usually escalates in steps
Many people do best with a ladder approach:
- Daily nasal moisture and protection
- Saline sprays or gels, humidification at night, and gentle nasal care
- Treat allergies and nasal inflammation to reduce irritation
- Medication options for heavier bleeding
- Antifibrinolytic therapy (for example, tranexamic acid) may be considered for patients with frequent or impactful epistaxis when local measures are not enough
- Targeted ENT procedures
- Ablative treatments (laser, radiofrequency, electrosurgery, sclerotherapy) may reduce bleeding from visible nasal telangiectasias
- For severe, refractory cases, more extensive surgical approaches may be considered in specialized hands
What often surprises people is that “simple” steps—consistent moisture and reduced trauma—can meaningfully cut bleeding frequency, even before medications or procedures.
Treating anemia and iron deficiency
Because chronic blood loss can be steady and invisible, iron repletion is central:
- Oral iron may work for mild deficiency if tolerated and absorbed.
- IV iron is common when oral iron fails, symptoms are significant, or anemia is more severe.
- Blood transfusion is usually reserved for urgent situations (very low hemoglobin with symptoms, instability, pre-procedure needs, or failure to maintain safe levels despite iron).
A practical strategy is to treat iron deficiency early—before severe anemia develops—because severe anemia can strain the heart and reduce resilience during infections, pregnancy, or surgery.
Treating internal AVMs and reducing high-impact risks
- Lung AVMs: embolization (blocking abnormal vessels from inside the blood vessel) is a common treatment when AVMs meet technical and clinical criteria. Treating lung AVMs can reduce the risk of neurologic complications in appropriate patients.
- Brain vascular malformations: management varies widely—some lesions are observed, while others may be treated with surgery, endovascular therapy, radiosurgery, or a combination, depending on risk features.
- Liver vascular malformations: treatment may involve managing heart strain, treating complications, and careful specialist evaluation. Some medical therapies are used in selected severe cases, and transplant evaluation is reserved for specific life-threatening scenarios.
Systemic therapies for severe bleeding
In patients with severe, refractory bleeding (nosebleeds or gastrointestinal bleeding) or certain organ involvement, clinicians may consider systemic agents that target abnormal vessel signaling. These treatments can reduce transfusion needs in selected patients, but they require careful monitoring and specialist oversight because they can have meaningful side effects and are not appropriate for everyone.
The key “treatment truth” is personalization: the same medication or procedure can be transformative for one person and unnecessary or risky for another. The most effective plans match therapy intensity to measured bleeding burden, iron needs, organ findings, and patient goals.
Management prevention and when to get urgent care
Long-term management works best when it combines prevention (screening and risk reduction) with practical routines that make bleeding less disruptive.
Daily management habits that often help
- Build a “nosebleed prevention routine”
- Humidify your sleeping space during dry seasons
- Use saline gel or spray consistently (not only after bleeding starts)
- Avoid aggressive nose blowing or picking; trim nails for children
- Treat iron deficiency as a chronic condition when needed
- Ask for a clear plan: target hemoglobin range, ferritin goals, and how often to check labs
- Track fatigue, shortness of breath, and exercise tolerance as functional markers
- Medication safety check
- Review aspirin, anti-inflammatories, supplements, and blood thinners with your clinician
- If blood thinners are medically necessary, bleeding risk can often be managed—do not stop prescribed therapy without medical guidance
Prevention strategies that reduce high-impact events
- Stay current with AVM screening and follow-up. Screening is not “one and done.” Your timeline depends on age, results, and life events (especially pregnancy planning).
- Use procedure precautions when relevant. Some people with lung AVMs or right-to-left shunting need special precautions for certain procedures to reduce infection or embolic risk. Your care team can tell you what applies to your anatomy.
- Pregnancy planning matters. Pregnancy can increase strain on circulation. People with known or suspected HHT benefit from pre-pregnancy counseling and appropriate screening, because untreated lung AVMs can become more risky during pregnancy.
When to seek urgent care
Get emergency help immediately for:
- Sudden weakness, speech trouble, vision loss, severe dizziness, or new seizure
- Sudden “worst headache of life,” fainting, or confusion
- Heavy bleeding that does not slow with standard measures or causes lightheadedness
- Signs of severe anemia: chest pain, shortness of breath at rest, fainting, or a racing heartbeat that does not settle
Seek prompt medical evaluation (same day or within 24–48 hours) for:
- A major change in nosebleed pattern (longer, more frequent, harder to stop)
- New black stools, persistent fatigue, or unexplained drop in exercise tolerance
- New or worsening shortness of breath, especially if it is out of proportion to activity
A practical way to stay organized
Many families benefit from a simple one-page summary that includes:
- Diagnosis status (clinical criteria met, genetic results if known)
- Prior AVM screening results and dates
- Current iron plan and recent lab values
- Medications that affect bleeding
- Specialist contacts (ENT, hematology, pulmonology, gastroenterology)
Management is not about constant medical visits. It is about choosing the right screenings, preventing predictable bleeding triggers, and having a clear plan for the moments when symptoms change.
References
- FinalDraft_StandardizedAlgorithms_041425 2025 (Guideline Algorithms)
- Medical and Interventional Management of Hereditary Hemorrhagic Telangiectasia – PMC 2024 (Review)
- Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances – PMC 2024 (Review)
- Epistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia – PMC 2025 (Review)
- Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia – PMC 2024 (Observational Study)
Disclaimer
This article is for educational purposes and does not replace medical advice, diagnosis, or treatment from a licensed clinician. Hemorrhagic telangiectasia can involve internal blood vessel malformations that may be dangerous without obvious symptoms. If you have sudden neurologic symptoms (such as weakness, trouble speaking, severe sudden headache, seizure, confusion) or heavy bleeding with fainting or shortness of breath, seek emergency care immediately. Your screening plan, medication choices, and treatment options should be personalized by your healthcare team.
If this article was helpful, please share it on Facebook, X (formerly Twitter), or any platform you prefer, and follow us on social media. Sharing supports our team and helps us continue producing clear, reliable health content.
