Diagnosis and Treatment at Columbia

HHT Diagnosis at Columbia

Because hereditary hemorrhagic telangiectasia (HHT) can affect many parts of the body, an accurate diagnosis involves several steps. We first want to confirm that you have the disorder and then understand what complications you may be experiencing.

All of our patients have an initial appointment with the director of our program, Dr. Charles Murphy. At your appointment, Dr. Murphy will review your medical history and conduct a full medical exam. Please bring any previous test results, a list of symptoms, and any medications you are currently taking. We may schedule some tests to confirm your diagnosis and look for arteriovenous malformations (AVMs), which are abnormal connections between arteries and veins that can cause life-threatening complications.

Do I have HHT?

Depending on whether you have a family history of HHT, there are different methods of diagnosing the disorder:

• Genetic testing: If you have a family history of HHT, a DNA test can diagnose the disorder. A genetic counselor will ask you questions about your family history and send your blood to a special lab which looks for the gene mutation known to cause HHT. The test is successful in identifying the gene in about 85 percent of cases.
• Clinical diagnosis: HHT can also be diagnosed using the Curacao criteria, which involves looking at four things: Nosebleeds, telangiectasias, AVMs of the large organs (brain, liver, and lung), and a history of HHT in a first-degree relative. If you meet three or more of the criteria, you are likely to have HHT. People who meet two criteria possibly have HHT, and those who meet only one probably do not have HHT. The Curacao criteria is excellent in ruling out HHT in adults, because 90 percent of patients will show the characteristics of the disorder by age 40. It is not as useful in diagnosing children, since nosebleeds, telangiectasias, and AVMs may not occur until later in life.

Diagnosing AVMs and Other Complications of HHT

If HHT is suspected—or if you have determined that you have HHT through genetic testing—we will order imaging tests, which will help locate AVMs and determine the severity of your disease. AVMs most commonly occur in the liver and the brain. Imaging tests that we use in diagnosis include:

• Bubble study: A noninvasive test in which saline solution is injected into the veins during an echocardiogram. The solution, mixed with air, creates bubbles, which can be used to detect abnormal blood flow in the heart.
• Computerized tomography (CT): When a bubble study reveals abnormal blood flow, a chest CT will be scheduled to look at your lungs.
• Ultrasound: AVMs in the liver can usually be detected with ultrasound.
• Magnetic resonance imaging (MRI): AVMs or any blood vessel abnormalities in the brain will be detected with an MRI exam.

Depending on your diagnosis, you will be referred to one or more specialists who will develop a treatment plan based on your particular symptoms. Our coordinator will manage scheduling for tests and appointments.

Because HHT is a hereditary condition, we will also talk to you about having your family members scheduled for genetic counseling and testing, to determine if they also have the genetic mutation that leads to HHT.    

HHT Treatment at Columbia

Your treatment will depend on the severity of your symptoms and which organ systems are involved. You may be referred for treatment to one or more specialists in interventional radiology, ENT, dermatology, pulmonology, pediatrics, neurosurgery, or interventional neuroradiology. Our doctors work closely together to ensure that every patient receives the best possible care.

Nosebleed Treatment

Treatment for nosebleeds depends on their frequency and severity. Treatment can range from home remedies, such as humidifiers and over-the-counter ointments, to surgery. Treatments include:

• Laser coagulation therapy: Coagulation therapy changes liquid blood to a congealed form that is less likely to bleed. This is a quick and effective way to stop nosebleeds, although the procedure usually needs to be repeated periodically.
• Medication: Oral medications to treat nosebleeds include tranexamic acid, estrogen, and tamoxifen. Bevacizumab, also known as Avastin, is given intravenously or in the form of a nasal spray and has shown promising results in treatment of nosebleeds.
• Embolization: In this minimally invasive procedure an interventional radiologist blocks off arteries to the nose. Embolization is usually used as a temporary solution while waiting for another treatment.
• Septal dermoplasty: A procedure in which the mucous membrane in the nose is replaced with a thick layer of skin.
• Surgery: Young’s nasal closure procedure, used in cases of severe nosebleeds, is a surgical treatment in which the nose is sewn closed.

AVM Treatment

AVMs in the lungs are treated by an interventional radiologist. The procedure is called pulmonary AVM embolization, and is usually performed as a same-day outpatient procedure. Embolization can also be used for AVMs in the brain.

• AVM embolization: Embolization is a low-risk and highly effective treatment for lung AVMs. The goal of embolization is to block the abnormal communication between the artery and the vein and prevent complications such as stroke, brain abscess, shortness of breath, heart failure, and bleeding.
•  Stereotactic radiotherapy. Stereotactic radiotherapy is an outpatient procedure that is used for AVMs in the brain. Beams of radiation from many different directions all target the AVM, destroying it and eventually closing off the affected blood vessels.

Iron Deficiency Treatment

Because HHT causes bleeding, we will routinely monitor your iron levels. Many people with HHT suffer from low iron, which can be treated by eating high-iron food and taking iron supplements. If your iron deficiency is severe, you may be given iron intravenously (through the vein). In some cases, a blood transfusion may also be necessary. 

Telangiectasia Treatment

In people with HHT, telangiectasia often begin to appear between the ages of 20 and 30 and can increase as you get older. If your telangiectasia require treatment, we will refer you to our dermatologist, who uses electrodessication to treat this condition. Electrodessication is an office procedure in which an electric current is used to remove specific skin lesions.