Hereditary haemorrhagic telangiectasia (HHT) can cause a wide range of serious complications. These depend on which organs are affected and how severe the bleeding is. Since HHT impacts blood vessels throughout the body, problems may arise in the skin, nose, brain, lungs, liver, and gut. For some people, the symptoms are mild. For others, they may lead to major health emergencies. Knowing about these complications helps with early treatment, regular check-ups, and better outcomes.
1. Chronic Anaemia
Iron-deficiency anaemia is one of the most common problems in HHT. It’s usually caused by frequent nosebleeds and slow bleeding from the gut.
If left untreated, it can cause:
- Constant tiredness or fatigue
- Shortness of breath during physical activity
- Dizziness or trouble concentrating
- Pale skin or cold hands and feet
- Fast heart rate and heart strain in severe cases
To treat anaemia, many people need regular iron supplements. Some may need iron through a vein or blood transfusions. If ignored, anaemia can worsen and lead to heart problems.
2. Lung AVMs and Hepatitis A-Like Symptoms
Pulmonary arteriovenous malformations (PAVMs) are abnormal blood vessel connections in the lungs. They allow blood to skip the normal oxygen-filtering process. This can lead to:
- Low oxygen levels (hypoxaemia)
- Blue lips or fingers (cyanosis)
- Dangerous clots or bacteria bypassing the lungs and reaching the brain
Serious problems include:
- Stroke
- Brain abscess
- Mini-strokes (TIAs)
- Migraine-like headaches
Doctors often treat PAVMs with embolisation, a procedure to block abnormal vessels. People with PAVMs may also need antibiotics before dental work or surgery to prevent infection spreading to the brain.
3. Brain AVMs and Stroke Risk
About 10–20% of people with HHT—especially those with type 1—have arteriovenous malformations in the brain. These brain AVMs can remain silent or suddenly rupture, causing:
- Bleeding inside the brain
- Seizures
- Weakness, speech problems, or paralysis
- Severe headaches
- In rare cases, coma or death
Early MRI scans can find these AVMs before they cause harm. Treatments may include surgery, embolisation, or focused radiation depending on the size and location.
4. Liver AVMs and Heart Failure
Liver AVMs are more common in people with HHT type 2. While they often go unnoticed at first, they can lead to:
- High-output heart failure (heart overworks to pump blood)
- Confusion or drowsiness from liver toxins (hepatic encephalopathy)
- Portal hypertension, leading to swelling, bleeding, and fluid buildup
- Damage to the bile ducts (ischaemic cholangitis)
If these problems become severe, a liver transplant may be the only long-term solution. Regular liver checks help prevent lasting damage.
5. Spinal AVMs
Spinal AVMs are rare but dangerous. They can press on the spinal cord and cause:
- Sudden or gradual paralysis
- Loss of control over bladder or bowels
- Ongoing back pain or weak limbs
These problems often appear in children with HHT. MRI scans and urgent surgery or embolisation are needed to avoid permanent nerve damage.
6. Digestive Bleeding
Small red spots (telangiectases) in the gut can bleed without being noticed. Over time, this can lead to iron-deficiency anaemia or:
- Black or tarry stools (melena)
- Stomach pain after eating
Bleeding tends to get worse with age, especially after 40. Doctors use scopes and tools like argon plasma coagulation to stop bleeding during procedures.
7. Risks During Pregnancy
Pregnancy adds extra risks for women with HHT. Hormone changes and increased blood flow can make AVMs more likely to rupture.
Possible complications include:
- Sudden bleeding from lung or brain AVMs
- Heart failure due to increased blood volume
- Stroke from hidden AVMs
To stay safe, women should get checked for lung and brain AVMs before pregnancy. A team of doctors should follow them closely throughout pregnancy and delivery.
8. Emotional and Social Effects
HHT also affects mental health and daily life. People may feel:
- Embarrassed by frequent nosebleeds in public
- Tired or drained from constant blood loss
- Anxious about possible complications
- Depressed by the chronic nature of the condition
- Judged due to visible red spots on the skin
Support groups, counselling, and educating friends or colleagues can help. Emotional support improves both coping and treatment success.
9. Delays in Diagnosis
HHT is often missed or mistaken for other issues, like frequent nosebleeds or unexplained anaemia. These delays may cause:
- Missed chances to screen family members
- Dangerous AVMs left untreated
- Incomplete or incorrect treatment
Training healthcare workers to recognise HHT signs is vital. Fast referral to HHT centres can prevent complications and improve care.
10. Hepatitis A Confusion and Diagnostic Challenges
Some symptoms of HHT, such as fatigue, low appetite, or gut bleeding, may resemble those of Hepatitis A or other liver issues. This overlap can sometimes delay correct diagnosis. However, blood tests and imaging studies usually help distinguish between the two.
In Summary
Hereditary haemorrhagic telangiectasia can affect nearly every part of the body. From lungs and brain to liver and spine, its complications can be life-threatening if ignored. Chronic bleeding, anaemia, and the emotional toll also add to the burden. But with early diagnosis, regular checks, and proper treatment, many of these problems can be avoided or reduced. Timely care greatly improves both survival and quality of life.
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