Online Health Chat with Joseph Parambil, MD
Date: March 26, 2015
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder that affects males and females of all ethnic and racial groups. The disease is passed down through generations, and a child born to a parent with HHT has a 50 percent chance of also inheriting the disease. HHT causes bleeding from abnormal blood vessels, which are often manifested as frequent bloody noses. However, the abnormality often involves other organs and systems of the body such as the digestive system, lungs and brain. It can cause a stroke or pulmonary hypertension if not properly treated.
About the Speaker
Joseph Parambil, MD, is an associate staff member in the Department of Pulmonary, Allergy and Critical Care Medicine. He is also assistant professor of medicine at Cleveland Clinic’s Lerner College of Medicine. Dr. Parambil is board-certified in internal medicine with additional specialty certification in pulmonary medicine and critical care medicine.
Dr. Parambil completed an internal medicine residency at Henry Ford Hospital in Detroit, as well as a fellowship in pulmonary and critical care medicine at Mayo Clinic in Rochester, Minn. He earned his medical degree from Semmelweis Medical University in Budapest, Hungary. Dr. Parambil completed a surgical internship at Frankford Hospital in Philadelphia. He is a member of several professional societies, including the American College of Physicians, the American Society of Internal Medicine, American College of Chest Physicians, American Thoracic Society and Pulmonary Hypertension Association.
Let’s Chat About Hereditary Hemorrhagic Telangiectasia (HHT)
Moderator: Welcome to our chat about Hereditary Hemorrhagic Telangiectasia (HHT) with Cleveland Clinic specialist Joseph Parambil, MD. Thank you, Dr. Parambil, for taking the time to be with us to share your expertise and answer our questions.
Let’s get started with our questions.
The ABCs of HHT
seva: What is HHT?
Joseph_Parambil,_MD: HHT is a genetic disease that is transmitted in an autosomal dominant manner with variable clinical presentations, even within the same family. Its manifestations tend to get more prominent with age.
Chloe30: How common is hereditary hemorrhagic telangiectasia?
Joseph_Parambil,_MD: It is more common than previously thought as a very rare disease. Its frequency almost approaches that of cystic fibrosis.
Abnerk: Is there only one type of HHT?
Joseph_Parambil,_MD: Thus far, three types have been described. Type 1 and type 2 are based more on the genetic mutation but are clinically not separable. A third type, called the combined syndrome of HHT and juvenile polyposis syndrome, is due to a specific mutation that puts patients at additional risks. Screening needs are based on the added diagnosis of juvenile polyposis.
leadnow: Are there other names for hereditary hemorrhagic telangiectasia?
Joseph_Parambil,_MD: It is also known as Osler-Weber-Rendu disease.
Symptoms and Diagnosis
Bachake: What are the signs and symptoms? How is HHT diagnosed?
Joseph_Parambil,_MD: The most common signs and symptoms are nosebleeds and the development of dilated blood vessels called telangiectasias on the face and hands. The problem is that the disease can often be silent, with internal organ involvement that sometimes only gets identified with life-threatening complications such as stroke, bleeding in the lungs, bleeding in the brain, etc. HHT is still a clinical diagnosis, but genetic testing is used to help confirm it in possible cases.
Larissa: I am 60 years old, and in September 2013, had an AVM (arteriovenous malformation) in my colon cauterized, which was found after anemia where my hemoglobin went to 5.1. I do have two to four minor nosebleeds a year and have since I was a child. I also have halo migraines with the same frequency. I have had two of each this year already. Also, four or five times since December, I have been asleep and awakened with mild headaches, which are hard to get rid of. I had trouble visiting at 7K to 8K feet above sea level (at Yellowstone) this past year, not prior years. No one in my family has HHT to my knowledge. I am active, but not too strenuous (walking, comfort biking, low-impact aerobics twice a week). I have mild aortic valve stenosis (a murmur my whole life). Am I a candidate for HHT? I worry about the odds for other organ AVMs and stroke etc.
Joseph_Parambil,_MD: You quite possibly could have HHT, but the diagnosis is based on a clinical evaluation. I recommend being seen at an HHT center of excellence to further elucidate this.
MAB: How do you know if you have AVM's in the lungs or brain? What kind of testing needs to be done?
Joseph_Parambil,_MD: There are effective screening techniques to detect AVMs in the brain and lungs. For the brain, an MRI of the brain with contrast is the standard screening test. For the lungs, we often start with a bubble echo, and if this is significantly positive, then we proceed with a CT scan of the lungs.
rainbow: What are telangiectasias? Is this different from an AVM?
Joseph_Parambil,_MD: Telangiectasias are dilated capillary vessels while AVMs are larger and are conduits that bypass capillary beds.
Involvement and Complications
MPSR4Life: How does HHT involve the heart and lungs?
Joseph_Parambil,_MD: With regard to the lungs, the involvement is with the development of AVMs, which are abnormal communications between the blood vessels that bypass the gas-exchanging capillaries. These are what can sometimes bleed and, if significant, cause low oxygen levels. And because the capillaries also function as filters, the AVMs can bypass conduits through which small blood clots do not get filtered and go to the brain and cause stroke. HHT does not directly affect the heart, but it can indirectly by causing high blood pressure in the lungs, called pulmonary hypertension, or by stressing the heart with AVMs in the liver along with chronic low blood counts from continuous bleeding.
Margaret: What are complications of HHT?
Joseph_Parambil,_MD: As mentioned above, the complications are mainly of the lungs and brain with bleeding into organs, low oxygen levels, and risk of stroke, even at a young age.
HeartacheMotel: What types of AVMs are associated with hereditary hemorrhagic telangiectasia?
Joseph_Parambil,_MD: AVMs are seen in the lungs, the brain and spinal cord, and the liver.
MAB: Could HHT cause autoimmune diseases?
momekid: Can aortic aneurysms be a manifestation of HHT?
Joseph_Parambil,_MD: Interesting question, as we are now starting to see aneurysms in HHT, but this has been mainly in patients with a mutation in the SMAD4 gene.
Larissa: Thank you. I had to join late, unfortunately. I see a lot of mention of AVMs in the lungs, brain, liver with HHT, but did not see AVM in gastrointestinal tract mentioned. Are they included in the HHT profile?
Joseph_Parambil,_MD: Yes. The GI tract is included, but the lesions seen in the GI tract are mainly telangiectasias.
Larissa: I might as well submit another question, too: Can you have bleeding from an AVM in your lungs and not have any symptoms or pain from it, i.e., not know it is there?
Joseph_Parambil,_MD: More often, you have an AVM in the lung that can remain silent, and often when it ruptures and bleeds patients do get symptoms of either pain based on the location or the coughing up of blood.
MAB: I’ve heard about Avastin® being used to cut down on nosebleeds. Does it have to be injected or can it just be administered by spray?
Joseph_Parambil,_MD: Both. Avastin can be injected by an ENT surgeon, who will identify the densest areas in the nose with abnormal vessels and inject the medication into the region that we know is effective, or as a spray that goes everywhere. We do not yet know about the efficacy of this, but results from the recently completed NOSE trial should shed some light on this.
Living with HTT
zmonkey: My child has HHT. Will she be able to play sports of any kind?
Joseph_Parambil,_MD: Children are encouraged to do what they enjoy with no restrictions. However, if your child has HHT, I recommend the appropriate screening for the brain and lungs and then decide on the appropriateness of the sporting activity desired.
Prevention and the Future
concernedHHTmother: I have HHT and have young children. Should I have them evaluated for HHT?
Joseph_Parambil,_MD: Yes, you should.
chunky: Can HHT be cured or prevented?
Joseph_Parambil,_MD: There is no cure for HHT yet, but the complications of silent internal organ manifestations can most certainly and effectively be prevented, and that stresses the importance of evaluations at an HHT center of excellence.
momekid: As the matriarch of the family with HHT, how beneficial would it be for me to have genetic testing, and what would be the procedure? Would I first have to be seen at the HHT center of excellence?
Joseph_Parambil,_MD: As the matriarch, you would be the most appropriate candidate for genetic testing. It would be best to be seen at a center of excellence because the genetic counselors, based on your information, can decide the extent of genetic testing that needs to be done. All that is involved is a blood sample.
soundmachine: What research is being done with HHT?
Joseph_Parambil,_MD: Research is being done to look at how the genetic mutation predisposes to clinical disease and the development of medical therapies for the different organ manifestations of the disease.
MAB: Does the doctor do clinical trials? I would just love to have an easy cure for constant nosebleeds.
Joseph_Parambil,_MD: Yes, we do clinical trials here. We are all hoping one day for an effective treatment for nosebleeds, as this affects the quality of life more than anything else.
Davis: In the chat description, it states that Cleveland Clinic is designated as a HHT Treatment Center by the HHT Foundation International, Inc. What does that designation mean?
Joseph_Parambil,_MD: That designation means that we have a group of specialists that know and are proficient with this disease and in managing its manifestations.
Moderator: That is all the time we have for questions today. Thank you, Dr. Parambil, for taking time to increase our knowledge about this rare and important condition.
On behalf of Cleveland Clinic, we want to thank you for attending our online health chat. We hope you found it to be helpful and informative.
If you would like to learn more about the benefits of choosing Cleveland Clinic for pulmonary conditions, visit us online at www.clevelandclinic.org/respiratory.
Joseph_Parambil,_MD: Thank you for your questions.
To make an appointment with Dr. Parambil or any of our specialists in the Respiratory Institute, please call 216.444.6503 or 800.223.2273, ext. 4650. You can also visit us online at www.clevelandclinic.org/respiratory.
For More Information
The Cleveland Clinic is designated as a HHT Treatment Center by the HHT Foundation International, Inc. and is the only designated center in Ohio and the surrounding states. Our HHT Center of Excellence uses a multidisciplinary approach to diagnosing and treating HHT by working closely with specialists from respiratory, neurology, hematology, interventional radiology, maternal and fetal medicine, pediatrics and genetics. We often see large families coming at one time, and our coordinator is able to schedule appointments with the necessary specialists in a timely manner in order to minimize your length of stay.
At Cleveland Clinic's Respiratory Institute, we provide world-class patient care by combining our strengths in clinical expertise, research and education. Serving nearly 90,000 patients annually, the Respiratory Institute’s unsurpassed expertise and experience attracts patients from all over the world who seek a definitive diagnosis and cutting-edge treatment, often for a rare or complex lung disorder. With more than 60 pulmonologists, allergists/immunologists and critical care specialists, the Respiratory Institute diagnoses and treats a wide range of lung, allergy and breathing-related conditions.
Cleveland Clinic Health Information
Learn more about symptoms, causes, diagnostic tests and treatments for HHT:
Clinical TrialsFor additional information about clinical trials: clinicaltrials.gov (must use Chrome or Firefox as browser to link)
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