Frequently Asked Questions About HHT
Cure HHT does not provide medical advice, nor does the printing of these answers constitute medical advice. For professional advice consult your medical healthcare provider.
Diagnosis, Testing, and Screening
HHT is a bleeding disorder but it can be confusing - HHT is a blood vessel disorder that leads to bleeding. HHT is not a coagulation disorder, meaning the blood clots normally. The cause for bleeding in HHT has led to some debate about this issue - people with HHT bleed because of abnormal blood vessels that develop in the skin, nose, GI tract and elsewhere.
Some people state that HHT is a blood vessel disorder and others claim it to be a bleeding disorder - both are correct. HHT is a bleeding disorder caused by a blood vessel disorder. It is the second most common inherited bleeding disorder.
Yes, but it is important that a family member with confirmed HHT (based on clinical symptoms) be the first in their family to be genetically tested for HHT. Then once the specific gene mutation has been identified, other family members can be tested for that mutation. In order to decide whether genetic testing will be helpful in your family, it is usually necessary to be seen either at an HHT Center or a genetics clinic/department in your area.
Additionally, Cure HHT has partnered with the Broad Institute on The Rare Genomes Project, a patient-driven research project that performs FREE full genome sequencing on families with suspected rare disease who do not yet have a genetic diagnosis. Visit The Rare Genomes Project page to learn more, or call 617-714-7395 to learn more or to get started!
There are currently no standard guidelines for the screening and treatment of lung AVMs in children. Based on the fact that some children have had complications from lung AVMs, we do advocate screening for all children of a parent with HHT. This screening should start as a baby with pulse oximetry every two or three years. Though oximetry will not detect mildly or moderately decreased oxygen levels, it will detect severely decreased oxygen levels. It seems to be the children who have severely decreased oxygen levels who are at risk for complications. Also, if a child is complaining of shortness of breath when exercising, or is having a hard time keeping up in sports, they should additional testing for lung AVMs depending on their age. At the age of 12, all children with HHT should have the same screening for lung AVMs recommended for adults. Children can be safely treated with embolization.
Dr. James Gossage, Director of Augusta HHT Center: Atrial fibrillation in HHT is a complex issue that would be best managed with an HHT specialist alongside your cardiologist. There are other options such as the Watchman procedure which closes the atrial appendage and decreases the chance of blood clots and strokes, and blood thinner use is minimal if at all.
Dr. James Gossage, Director of Augusta HHT Center: Pulmonary AVMs (PAVM) are the most common serious problem in patients with HHT and are seen in 30% to 40% of patients. Common symptoms of PAVM include shortness of breath, low oxygen levels when checked by finger oximetry and hemoptysis (coughing up blood). Shortness of breath and low oxygen levels are often misdiagnosed as other problems such as asthma and heart disease because the standard chest X-ray may be normal, especially if the PAVM are microscopic. Hemoptysis is less likely to be misdiagnosed because this symptom usually results in checking a CT scan of the chest, which usually finds the PAVM.
In any case, the best first test for finding PAVM is a contrast (“bubble”) echocardiogram which shows shunting in the lungs – a characteristic finding of PAVM. Less common symptoms of PAVM include stroke and brain abscess (infection on the brain). These may also be misdiagnosed because physicians do not usually look at the lungs in case of these symptoms. Again, a contrast echo should find the PAVM. Bottom line, if you have any of these symptoms and they are eluding diagnosis or not getting better, please ask your physician to consider PAVM and ordering a contrast echocardiogram.
- Stainless steel coils
- Titanium coils
- Non-ferromagnetic coils
MRI can be performed at least 6 weeks after coil embolization with stainless steel coils to allow the coils a chance to fibrose in.
MRI can be performed immediately in patients with titanium and other non-ferromagnetic coils.
It is believed that the benefits of using MRI to rule out brain or spine AVM (10% incidence in HHT) or monitor existing CNS AVM in HHT patients far outweighs the small theoretical risk of complications related to steel coils in the lungs.
~ Statement provided by Augusta University HHT Center of Excellence
Dr. Jeffrey Pollak, Medical Director of Yale University HHT Center:People with a family history of HHT, even those without symptoms, are potentially at-risk for having the condition and associated internal AVMs. Anyone with a parent, sibling or child with HHT is considered at-risk. Features leading to a suspicion of HHT, like nosebleeds and telangiectasia, often do not appear until adolescence or later, and sometimes never appear. Approximately 10% of adults with HHT do not have nosebleeds and skin telangiectasia can be subtle, so the absence of these signs does not exclude the condition. Lung and brain AVMs often don't cause symptoms, but if it is of a significant size, it can increase the risk for stroke, brain abscess and hemorrhage. Indeed, these serious complications can be the first evidence of the presence of AVMs, for which preventive therapy is available.
The most accurate way to determine who in a family has HHT is through genetic testing. A family member with definite HHT, based on clinical findings, is first tested to determine the family’s mutation, which is possible in 85% to 90% of families with HHT. Testing for this known mutation can then be done on at-risk family members with no or minimal symptoms. Only those with the family’s mutation would need HHT evaluation and AVM screening. Since the potentially life-threatening complications associated with HHT are preventable with appropriate treatment and follow-up, we recommend genetic testing and/or screening at-risk family members, even in the absence of symptoms.
Dr. James Gossage, Director of Augusta HHT Center: It is not uncommon to lose blood in the stool and not be able to see it. It is also possible to underestimate blood lost during nosebleeds. If you are iron deficient from slow bleeding you will not replace the blood which will further exacerbate the losses. There may also be variability in the hemoglobin test that may make the loss look worse than it really was.
Dr. James Gossage, Director of Augusta HHT Center: The general belief by HHT experts is that estrogens help some patients, maybe 30%, especially at higher doses. The risks need to be weighed against the benefits on an individual basis.
Typically, filters are not used with iron infusions. The concern is the filter may filter out some of the iron and prevent it from being infused. Ideally, iron infusions are done slowly in an infusion center with a trained infusion nurse monitoring the patient closely and using an IV pump with a built in air detector alarm, so the risk of having a large amount of air accidentally infused is extremely small.
Dr. Jason Hamilton, Director of Plastic and Reconstructive Surgery at Osborne Head and Neck Institute: It's possible to develop a septal perforation, which occurs when cartilage separating the two nostrils (known as the septum) develops a hole or fissure. This can cause a variety of symptoms, most notably nose bleeding. In HHT patients, septal perforation is usually attributed to nasal trauma from aggressive laser or electric coagulation sometimes used in treating epistaxis.
A septal perforation alters the anatomy of the nose, affecting its function. The normal humidity in the nose is decreased by constant airflow across the weak or torn edges of the perforation, causing the site of the perforation to dry out, leading to a crusted or scabbed area likely to bleed. When left untreated, it causes further deterioration of the condition.
The surgical procedure to repair a septal perforation should be performed soon after a diagnosis, and not as a last resort. The goal is to restore normal nasal anatomy and humidification and to reestablish the structural integrity of the nose – it is not a cure for HHT-related epistaxis.
Dr. Mark Chesnutt, Director of Oregon Health and Science University HHT Center: Many decisions in both life and medicine require that one balances the potential benefits and risks of an action, an intervention or a medication. This is true when one considers the use of blood thinners, especially for a person with HHT.
Blood thinners have been shown to significantly reduce the risk of harm and/or death in a number of conditions, including, but not limited to, heart attacks, atrial fibrillation, stroke and blood clots (both deep venous thrombosis and pulmonary embolism). However, in any patient, blood thinners increase the risk of undesired bleeding. The risk of nosebleeds and gastrointestinal bleeding while taking blood thinner may be higher in some people with HHT compared to those without HHT.
Experience from many HHT Centers of Excellence suggests that at least many HHT patients who take a blood thinner are able to do so without a serious complication and, therefore, are able to benefit from their use. At the present time, there is no good way to know who will have a complication from a blood thinner. Based on experience to date, there are no absolute contraindications for the use of a blood thinner in a person with HHT; blood thinners can be used with caution when there is a strong indication and potential benefit for their use.
In some situations, the Genentech Patient Foundation will give free medication to those without insurance coverage or with financial concerns.
To see if you qualify or to view a list of qualifying medications, visit: https://www.gene.com/patients/patient-foundation
How can HHT affect your lifestyle?
As long as the lung and brain malformations are treated, on average, the life expectancy of people with HHT is not significantly altered.
Yes, as long as the pregnant woman has no untreated lung AVMs. We strongly recommend that all women known or suspected to have HHT be screened for lung and brain AVM prior to becoming pregnant, or during the early second trimester of pregnancy if a pregnancy is already in process. Serious complications, such as life-threatening bleeding and strokes, have occurred in pregnant women with HHT who had undetected and thus untreated lung AVMs. Otherwise, serious HHT-related complications for the mother or baby are rare. Some women report that new skin telangiectases developed during their pregnancy and that their nosebleeds worsen. However, some women actually report an improvement in nosebleeds while pregnant.
Dr. Felix Ratjen, Toronto Pediatric HHT Center: Regular exercise is important for everybody, and this certainly includes children who have HHT. Most children with HHT can participate in sports at all levels including competitive sports, but there are a few exceptions. Contact sports are not recommended for children with HHT who have brain AVMs unless they are completely treated; you should talk to your doctor about that, if you are unsure what the status is. For children with untreated pulmonary AVMs, if their oxygen saturation is not normal, strenuous exercise may put them at extra risk and I usually recommend against it until treatment of the AVM has improved the situation. Even if the oxygen saturation is fine at rest, this may change during exercise. In cases where this is not clear, I perform a formal exercise test in the clinic. This also often provides comfort to parents as the test can determine the "safe" level of exercise that their child can participate in. Scuba diving is the one sport that individuals with HHT should avoid because small lung AVMs may be present and cause "the bends".
Dr. Justin McWilliams, Co-Director of UCLA HHT Center: Alcohol has several effects on the blood which are relevant to HHT patients. First, alcohol acts to inhibit platelet aggregation, meaning the platelets that make your blood clot become less sticky, making your blood thinner. This explains why moderate alcohol consumption (1-2 drinks per day) is thought to be good for heart health, since it may help prevent formation of clots in the heart vessels, which causes a heart attack. However, in an HHT patient, thinning of the blood may cause worsening of nosebleeds or GI bleeding.
Alcohol consumption also causes vasodilation, meaning blood vessels can enlarge slightly- this in part can account for the warmth and flushing felt with alcohol. Again, this can be a favorable for narrowed or blocked vessels, in the heart for example, but dilation of the telangiectasias (and the arteries which supply them) in HHT patients could increase bleeding.
Anecdotally, alcohol (particularly red wine) has been one of the most common triggers of nosebleeds in my HHT patients. That being said, a large portion of HHT patients tolerate alcohol without ill effects, which underscores the complexity of the disease and of the blood clotting pathways, which cannot always be predicted in an individual patient. I counsel my HHT patients to enjoy alcohol as they wish, but to pay attention to whether alcohol triggers bleeding - if so, limiting or eliminating alcohol is a reasonable strategy to reduce bleeding.
Yes, as long as their hemoglobin, or hematocrit, is at an acceptable level.
Dr. Brian Graham, Co-Director of University of Colorado HHT Center: I have come to the consensus that it should generally be safe. I'd recommend you not have a tattoo applied to a visible telangiectasia, as that may bleed quite a bit. Be sure that the skin was carefully cleaned at the site, such as with rubbing alcohol, to avoid any infection, and probably avoid areas that are less sterile such as in the pelvis.
If you have known pulmonary arteriovenous malformations (PAVMs), consider being extra careful by taking a single dose of an antibiotic at the time of the procedure, to avoid any bacteria released from the skin passing through a lung AVM and going to the brain or other places in the body and causing an infection.
As a more general precaution, make sure they use clean needles (to avoid getting infected with HIV or hepatitis) and stick to reputable places, rather than doing it “homemade."
Dr. Justin McWilliams, Co-Director of UCLA HHT Center: I would not recommend it, as the trauma may result in more telangiectasias on the inside of the nose at the piercing site, and more nosebleeds… but that said, it is ultimately up to the individual. I don’t think the infection risk would be any different from the general population.
Each child born to an HHT parent has a 50% chance of inheriting the HHT gene mutation. One copy of each gene is inherited from the father and the other copy from the mother. People with HHT have one normal copy of the HHT gene and one mutated copy. When a person with HHT has a child, he or she will either pass on the normal copy of the gene or the copy with the mutation. A child who inherits the gene with the mutation will have HHT. A child who inherits the normal copy of the gene will not have inherited HHT. Therefore, each time a person with HHT has a child, there is a 50% chance that the child will have HHT.
No, but sometimes it can look like it did. At the genetic level, you either have HHT or you don’t. There is no such thing as being a carrier of HHT (that term is reserved for genetic disorders that are recessive, not dominant like HHT). If a grandparent and grandchild both have HHT, it can safely be assumed that the "parent" in between the two also has HHT. However, since symptoms of HHT can be EXTREMELY variable even within the same family, it is possible that the “parent” shows such mild symptoms that are not obvious, it could make it seem like HHT skipped a generation. For example, some people with HHT get multiple nosebleeds per day, while some people only get a couple per year.
HHT is an "equal opportunity" disorder. It is not limited to, or found predominantly in, people of a particular ethnic background, as are some other genetic disorders. HHT has been found on every continent. Cure HHT has had requests for information from China, Greece, India, Japan, Peru, Russia, Norway, South Africa, to name just a few. Treatment centers have been formed in many countries.
How can HHT influence other medical treatments and procedures?
Dr. James Gossage, Director at Augusta HHT Center: Antibiotic prophylaxis is recommend before dental procedures that involve manipulation of the gingival tissues (such as cleaning and extractions) and certain other potentially non-sterile procedures such as surgery on respiratory mucosa. It is not recommended for typically sterile procedures like heart catheterization, gall bladder surgery and gastrointestinal endoscopy. Click here for a more detailed list of recommendations.
HHT is not thought to be a contraindication for estrogen or estrogen containing oral contraception pills (OCPs). However, individuals with increased risk of thrombosis or untreated lung AVMs should consult with an HHT specialist.
It is recognized in the hematology/bleeding disorders community that estrogen containing oral contraception pills can help in patients with inherited bleeding disorders. Some patients report that being on oral contraception pills actually helps decrease their epistaxis.
Acetaminophen, such as Tylenol, is recommended for HHT patients to treat minor aches, pains and reduce fever.
NSAIDS (nonsteroidal anti-inflammatory drugs) such as aspirin, ibuprofen (Motrin, Advil), celecoxib (Celebrex) and others are not recommended for HHT patients. NSAIDS are a drug class that reduce pain, decrease fever, prevent blood clots and decrease inflammation. Increased bleeding can occur in HHT patients with these medications.
There are circumstances when HHT patients need to take NSAIDS but this should be under the direction of your doctor.
Some people with HHT have abnormalities in the liver that can actually cause or contribute to heart failure. The possibility of liver AVMs should be considered in a patient with both HHT and high output heart failure, particularly if the heart failure occurs at a relatively young age. Currently, most of the treatments that have been successful in treating the telangiectasia and AVMs elsewhere in the body have proven dangerous when done on the liver. It is particularly important for someone with HHT not to have any treatments involving their liver without contacting an HHT Treatment Center first.
Dr. James Gossage, Director of Augusta HHT Center: There is really no reason why an HHT patient can’t have hip replacement, though the blood thinners are a potential issue. Blood thinners are important to reduce the risk of blood clots during and after the surgery, but are not mandatory. About half of patients with HHT have increased bleeding while on blood thinners, but half don’t. One option would be a trial of blood thinners before the surgery to see how you do. If bleeding gets a lot worse, you could work on fixing that problem before the surgery.
Dr. James Gossage, Director of Augusta HHT Center: A colonoscopy is a low risk procedure so no antibiotics are recommended.
Dr. James Gossage, Director of Augusta HHT Center: There are no particular anti-anxiety/antidepressant medications that should be avoided in the typical HHT patient.
Dr. James Gossage, Director of Augusta HHT Center: Overall the benefit of taking a statin outweighs any side effects. Rarely, it may worsen bleeding but this is uncommon.
Yes, it is safe to get the flu shot with lung AVMs.
HHT and Your Physician
We recommend that all people with HHT be evaluated at least once at one of the HHT Treatment Centers. HHT is a multi-organ disorder and the teams at these centers are able to diagnose and treat all aspects of the disorder. The Cure HHT Physician Directory was created to help patients and their families find a medical professional in the United States and Canada who is knowledgeable about the diagnosis, treatment and management of this rare disease. It contains doctors associated with the HHT Centers of Excellence as well as doctors and medical personnel that treat HHT in their community. Cure HHT provides this information as a service to patients and does not specifically endorse any individual physician. All information has been provided by the doctors so patients can make their own assessment of each doctors' qualifications.
Yes. The International HHT Clinical Guidelines should be the main source for standardized care. Cure HHT has created checklists for nosebleed management, brain AVMs and lung AVMs, the most common symptoms of HHT.
We would be happy to send your physician additional information package; call Cure HHT at 410-357-9932 with your physician's contact information. In the meantime, ask your doctor to review the resources available on our resource library.