Hereditary Haemorrhagic Telangiectasia (HHT) is an inherited disorder that causes arteriovenous malformations (AVMs) or a tangle of blood vessels to develop in between the arteries and the veins. The nose, lungs, brain, and liver are the most commonly affected parts of the body with this condition. AVMs can increase in size over time, bleed, or rupture, causing life-threatening complications.
The symptoms of Hereditary Haemorrhagic Telangiectasia (HHT) can vary depending upon the part of the body that is impacted by the condition. Some cases of this condition might not cause obvious symptoms until a serious bleed has developed somewhere in the body. The most common symptoms of this condition are:
Hereditary Haemorrhagic Telangiectasia (HHT) is caused by a genetic disorder that is inherited from the patient’s parents. This is a condition that is autosomal dominant, meaning that if just one of your parents has the condition, you have a 50% chance of having it as well. Those with HHT will offer the same 50% likelihood of passing on the condition to their own children.
Risk factors for this condition are entirely gene dependent. If you have a parent who has the condition, you will have the aforementioned 50% chance of having it as well.
HHT is often diagnosed via a combination of physical examination and testing. Imaging tests, as well as blood tests, will often be used to confirm the diagnosis of this condition. In some cases, genetic testing will be done to identify the condition before a bleed can happen and cause serious complications for patients.
Ultrasound imaging is often used to visualise organs like the liver, or MRI can be used to look for abnormalities like brain bleeds. You might also be given a bubble study, which is done to look for AVM in the lungs. CT scans can be used to look for bleeds in various parts of the body as well.
Prevention of this condition is not possible since it is genetic in nature. You can treat HHT, however, with several types of treatment protocols. Drugs can be given that prevent extreme bleeding, but these are usually only used in emergencies for those suffering from this condition. Drugs that block blood vessel growth have shown promise in keeping bleeding under control in patients with HHT as well.
Hormone-related drugs that contain oestrogen can also be helpful in some cases. Those with anaemia might be given medications to help boost red blood cell counts as well.
Surgical ablations can be done to help control things like nosebleeds, and some patients will also need skin grafts to help repair areas that have experienced consistent bleeding over time due to HHT. In extreme cases, the nostrils might be surgically closed to halt severe nosebleeds.
When the lungs, brain, or liver are involved, surgical procedures can include embolization of the area to block blood from entering the AVM, or the AVM might be surgically removed. AVMs can sometimes also be destroyed with stereotactic radiotherapy. For those with severe liver damage, a liver transplant might be the best treatment option.