DIAGNOSIS
Your doctor may use a physical examination, imaging test findings, and family history assessment to diagnose Hereditary hemorrhagic telangiectasia. However, specific symptoms may not be visible in children or young adults. So, your physician may also suggest genetic testing to validate a probable diagnosis of HHT.
Imaging Tests
In HHT, abnormal connections between arteries and veins termed arteriovenous malformations (AVMs) arise. The lungs, brain, and liver are the most typically affected organs by hereditary hemorrhagic telangiectasia. Your physician could suggest having several of the initial imaging tests to look for arteriovenous malformations:
- Ultrasound. This procedure is occasionally used to assess if AVMs have impacted the liver.
- MRI. Your doctor may conduct an MRI scan to look for blood vessel problems in your brain.
- Bubble study. Your doctor may propose specific echocardiography called a bubble study to look for any irregular blood flow caused by an AVM in a lung.
- CT Scan. If a bubble study finds a feature that appears to be a lung AVM, your doctor may arrange a CT scan of your lungs to confirm the diagnosis and determine if surgery is required.
TREATMENT
Seek medical help as soon as you or your child develops HHT. Besides, due to the disorder’s rarity, finding an expert in HHT might be difficult.
The most prevalent treatment options are as follows:
Medications
- Drugs that block blood vessel growth
- Hormone-related drugs
- Drugs that slow the disintegration of clots
Surgical and other procedures for the nose
- Skin graft
- Ablation
- Surgically closing the nostril
Surgical and other procedures for the brain, lungs, and liver
- Stereotactic radiotherapy
- Embolization
- Liver transplant
- Surgical removal
