Questions and terms
The questions people actually ask about hereditary hemorrhagic telangiectasia (HHT), answered by clinicians who treat it, plus a glossary of every term you are likely to meet in a clinic letter.
34 questions
Frequently asked questions
Filter by topic, or search for a word like pregnancy, tattoo, or blood thinner. Many answers come from the directors of HHT Centers of Excellence and are attributed to them.
Is HHT considered a “blood disorder” or a “bleeding disorder”?
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, gastrointestinal 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.
Is there a blood test or DNA test available to diagnose HHT?
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 or 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 no-cost full genome sequencing on families with suspected single gene disorders who do not yet have a genetic diagnosis. Call 617-714-7395 to learn more or to get started.
Should children be screened for AVMs?
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 have 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.
What is the best treatment for an HHT patient diagnosed with atrial fibrillation? Is there a procedure that does not require blood thinners?
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.
What are common symptoms of pulmonary AVMs and how can they lead to a misdiagnosis?
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, or 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, or “bubble”, echocardiogram which shows shunting in the lungs, a characteristic finding of PAVM. Less common symptoms of PAVM include stroke and brain abscess, an 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.
What are coils made of and are they safe for an MRI?
Coils are made of stainless steel, titanium, or other non-ferromagnetic materials.
MRI can be performed at least six 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, which has a 10% incidence in HHT, or to monitor existing central nervous system AVM in HHT patients, far outweigh the small theoretical risk of complications related to steel coils in the lungs.
Statement provided by Augusta University HHT Center of Excellence.
Why should a family member of an HHT patient be screened even if no symptoms have appeared?
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 do not cause symptoms, but if one 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 or screening of at-risk family members, even in the absence of symptoms.
How can a person lose two units of blood in one week with only minor nosebleeds and no visible blood in the stool?
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.
Can the use of estrogen decrease bleeding from HHT?
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.
Are filters needed for iron infusions for HHT patients?
Typically, filters are not used with iron infusions. The concern is that 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.
Can excessive treatment for nosebleeds permanently harm my nose?
Dr Jason Hamilton, Director of Plastic and Reconstructive Surgery at Osborne Head and Neck Institute: It is 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.
When is it permissible for an HHT patient to take a blood thinner?
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 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 a blood thinner may be higher in some people with HHT compared to those without HHT.
Experience from many HHT Centers of Excellence suggests that 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.
How can I obtain Genentech medications, like Avastin, free of charge or without insurance coverage?
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 gene.com/patients/patient-foundation.
What is the life expectancy of someone with HHT?
As long as the lung and brain malformations are treated, on average, the life expectancy of people with HHT is not significantly altered.
Is pregnancy safe for someone with HHT?
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 worsened. However, some women actually report an improvement in nosebleeds while pregnant.
Can I play sports with HHT?
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 decompression sickness.
How does alcohol affect the blood, and what can the results be for an HHT patient?
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, one to two 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 gastrointestinal 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 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.
Can a person with HHT donate blood?
Yes, as long as their hemoglobin, or hematocrit, is at an acceptable level.
What are the risks and precautions an HHT patient should be aware of when getting a tattoo?
Dr Brian Graham, Co-Director of University of Colorado HHT Center: I have come to the consensus that it should generally be safe. I would 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, 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 at home.
Is it okay to get my nose pierced if I have HHT?
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. That said, it is ultimately up to the individual. I do not think the infection risk would be any different from the general population.
If I have HHT, what is the chance a child of mine will have HHT?
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.
Can HHT skip generations?
No, but sometimes it can look like it did. At the genetic level, you either have HHT or you do not. 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, which 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.
What ethnic groups are affected by HHT?
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, and South Africa, to name just a few. Treatment centers have been formed in many countries.
When do I need to take prophylactic antibiotics?
Dr James Gossage, Director of Augusta HHT Center: Antibiotic prophylaxis is recommended 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.
A more detailed list of recommendations is available in the Resource Library.
Is it safe to take oral contraceptive pills with HHT? What effect do pills that contain estrogen have on bleeding?
HHT is not thought to be a contraindication for estrogen or estrogen-containing oral contraceptive pills. However, individuals with increased risk of thrombosis or untreated lung AVMs should consult with an HHT specialist. It is recognized in the hematology and bleeding disorders community that estrogen-containing oral contraceptive pills can help in patients with inherited bleeding disorders. Some patients report that being on oral contraceptive pills actually helps decrease their epistaxis.
What should I take for aches and pains or a headache?
Acetaminophen, such as Tylenol, is recommended for HHT patients to treat minor aches and pains and to reduce fever. NSAIDs, or 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.
My mother has been diagnosed with HHT and also has heart failure. Could this be related to HHT?
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.
Can an HHT patient have a total hip replacement? Is it safe to use blood thinners?
Dr James Gossage, Director of Augusta HHT Center: There is really no reason why an HHT patient cannot have a 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 do not. 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.
Is it safe to have a colonoscopy?
Dr James Gossage, Director of Augusta HHT Center: A colonoscopy is a low risk procedure, so no antibiotics are recommended.
Are there any anti-depressant or anti-anxiety medications that are okay to take?
Dr James Gossage, Director of Augusta HHT Center: There are no particular anti-anxiety or antidepressant medications that should be avoided in the typical HHT patient.
Is it okay to take cholesterol lowering medication, such as statins?
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.
Is it safe to get the flu shot with PAVMs?
Yes, it is safe to get the flu shot with lung AVMs.
Can you recommend a doctor in my area who specializes in HHT?
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 doctor’s qualifications.
My family physician wants information about caring for a patient with HHT. Is there a standard protocol?
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 an 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 in our Resource Library and the guidance written for clinicians.
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82 terms
Glossary
Hereditary hemorrhagic telangiectasia is difficult to say, but it does not have to be hard to understand. Search for any word you have met in a clinic letter or a test result. Pronunciations are in brackets.
ABSCESS (AB-sess) An infected, inflamed area in the body where pus collects.
ANEURYSM (AN-yoor-is-um) A weakened dilated blood vessel that is prone to rupture, or hemorrhage.
ANGIOGRAM (AN-jee-o-gram) A test or procedure used to examine blood vessels of an organ such as the brain or lung. A small tube, called a catheter, is inserted into a vein or artery. A dye is then injected which highlights all the blood vessels, and high-speed x-ray pictures are taken.
ARTERIAL BLOOD GASES (ABG) In order to determine the presence of PAVMs, blood is taken from an artery in the wrist to measure the oxygen level.
ARTERIOGRAM See ANGIOGRAM.
ARTERIOVENOUS MALFORMATION (are-teer-ee-oh-VAY-nuss) An abnormal, direct connection, like a short circuit, between an artery and a vein.
ASYMPTOMATIC (AY-sim-tow-matik) Having no obvious symptoms.
AUTOSOMAL DOMINANT (ah-tow-SOM-mal) A genetic term describing a disorder that affects men and women equally and has a 50% chance to be passed to each of one’s offspring.
AVM See ARTERIOVENOUS MALFORMATION.
BILATERAL (by-LAT-er-al) Both sides.
BIOPSY (BUY-opp-sy) A small piece of body tissue is removed for microscopic examination.
CAT SCAN (Computed Axial Tomography) An x-ray test of any organ that uses computer reconstruction of multiple images of sections of the brain to determine the presence of stroke, AVM, and brain abscess.
CATHETER (CATH-et-er) A small plastic tube which is inserted into a vein. Used most commonly in HHT patients to repair lung AVMs. See COIL EMBOLIZATION.
CAUTERY (CAW-terr-ee) A small electric needle or chemical such as silver nitrate is applied to telangiectases to control bleeding.
CEREBRAL (sir-REE-brull) An adjective used to describe anything related to the brain.
CHROMOSOME (CROW-moh-sohm) Microscopic particles within the cells of our bodies that contain genes. Genes for HHT are located on chromosome 9 and 12 and at least one other chromosome. See GENE.
COIL EMBOLIZATION (em-bull-eye-ZAY-shun) A treatment for AVM. A stainless steel or platinum coil is placed using a catheter to permanently block off blood flow to an AVM.
CONGENITAL (kon-GEN-it-al) Present from the time of birth.
CYANOTIC (sy-an-AW-tick) The bluish tinge of the skin when the lungs are unable to provide enough oxygen to the blood.
DERMATOLOGIST (der-mat-ALL-aw-jist) A doctor who specializes in the skin.
DIAGNOSIS The process of identifying a disease based on symptoms.
DIFFUSE (diff-YOUSS) Spread out in all directions, not concentrated.
DYE LASER Or Pulsed Dye Laser. Emits a beam of light energy in the wavelength of the color red. Used in treating telangiectases on the skin.
ECHO BUBBLE A test to detect AVMs in the lung. Sterile saline solution which has been shaken to create micro bubbles is injected into the arm and ultrasound images of the heart are recorded. Also known as a contrast echo or TCE.
ELECTROCAUTERY (ee-lek-tro-COT-er-y) See CAUTERY.
EMBOLISM (EM-bull-is-um) An obstruction in a blood vessel, usually by a blood clot which has migrated from the legs.
EMBOLIZATION or EMBOLOTHERAPY (em-BULL-o-thair-a-pee) A treatment for AVM. Some sort of device or substance is placed using a catheter to block off the blood flow to an AVM.
ENDOSCOPY (en-DOS-cop-ee) Examination of the hollow organs of the body by passing a small tube, such as in the gastrointestinal tract: the stomach, the small intestine, and the colon.
ENDOTHELIUM (en-doh-THEE-lee-um) The inner layer of skin cells which line the blood vessels.
ENT A doctor who specializes in the ears, nose, and throat. Also called an otolaryngologist.
EPISTAXIS (ep-iss-TAX-iss) Nosebleeds.
FISTULA (FISS-tew-lah) An abnormal passage or connection between two organs or blood vessels.
GASTROENTEROLOGIST (gast-row-ent-er-ALL-aw-jist) A doctor who treats diseases of the gastrointestinal tract: the stomach, the small intestine, and the colon.
GENES (jeens) They transmit our inherited traits to our children. See HEREDITARY.
GENETICIST (jen-ETT-iss-ist) A physician who treats patients, or a scientist who specializes in the study of genetics.
GENETIC COUNSELOR A professional with a graduate degree in genetic counseling who specializes in genetic disorders and their implications for an individual and his or her family.
GENOME, THE HUMAN (GEE-noam) A world initiative of the 1990s designed to locate all the genes of the human body.
HEMANGIOMA (hee-man-gee-OH-mah) A blood vessel malformation with diminished blood flow that occurs in the brain or liver. Different from an AVM.
HEMATEMESIS (heem-ah-TEM-eh-siss) Vomiting blood.
HEMATOCRIT (hee-MAT-o-crit) A measurement of blood. A normal reading would be 36% to 46%.
HEMIPARESIS (hee-mee-par-EE-siss) A paralysis of one side of the body, usually caused by a stroke.
HEMOGLOBIN (HEEM-oh-glow-bin) The substance in the blood that carries oxygen from the lungs out to various parts of the body. A normal hemoglobin count would be about 12 to 15.
HEMOPTYSIS (heem-OP-tih-siss) Coughing up blood.
HEMORRHAGIC (hem-or-ADJ-ick) Excessive bleeding.
HEREDITARY (hair-ED-it-air-ee) Transmitted from generation to generation by the genes.
HORMONE (HOAR-moan) Naturally occurring chemical substance formed by the body and carried to another area where it has a specific effect, such as estrogen. Hormones can also be manufactured and administered.
HYPOXEMIA (high-pocks-EEM-ee-ah) A condition in which the amount of oxygen in the blood is reduced.
INTRACRANIAL (IN-tra-CRAY-nee-al) Located within the brain.
LASER PHOTOCOAGULATION Use of a laser such as the YAG or Argon to treat telangiectasia in HHT.
LASER THERAPY The acronym LASER stands for Light Amplification by Stimulated Emission of Radiation. A very intense beam of light is focused on the affected area. Used to treat telangiectases of the skin, gastrointestinal tract, and nose.
LESION (LEE-zhun) An abnormality in an organ of the body. An AVM is a type of lesion. See AVM.
MRI (Magnetic Resonance Imaging) A scan of the brain or other organ which does not use radiation, but uses magnetic energy to determine the presence of AVMs, aneurysms, stroke, and brain abscess.
MELENA (MEL-en-ah) Black stool due to bleeding in the stomach or the duodenum. Dark stool may also be caused by oral iron therapy.
MIGRAINE A type of headache often characterized by a preliminary change in vision, called an aura, followed by severe headaches. They are particularly common in patients with HHT and lung AVMs.
MORBIDITY (more-BID-it-ee) To have significant symptoms or complications from a disease or a treatment.
MUCOUS MEMBRANE (MEW-cuss) Also called the mucosa. The lining of the body cavities that connects with the outside air, for example the lining of the nose or mouth.
MUTATION (mew-TAY-shun) A change in the genetic code of a gene, which can cause a genetic disorder.
NEUROLOGIST (noor-ALL-aw-gist) A doctor who specializes in the brain and spinal cord.
NEUROSURGEON (NOOR-oh-sir-jun) A surgeon who treats diseases of the brain and spinal cord.
OCCLUDE (oh-CLOOD) To close a passage.
OCCULT BLOOD (oh-CULT) Blood that is present in the stool, but not visible to the eye.
OPHTHALMOLOGIST (op-thall-MALL-aw-jist) A doctor who specializes in diseases of the eye.
OTOLARYNGOLOGIST (OH-to-lar-in-GOL-aw-jist) A doctor who specializes in diseases of the ear, nose, and throat. Sometimes called an ENT doctor.
PAVM (Pulmonary Arteriovenous Malformations) Direct connections between the arteries and veins in the lung.
PLACEBO (plah-CEE-bow) A substance or medicine given to the patient which has no medical action but which may make the patient feel better.
PROPHYLACTIC (PRO-fill-ACT-ick) Preventative.
PULMONARY (PULL-mon-air-ee) Used to describe anything pertaining to the lungs.
RADIOLOGIST (ray-dee-ALL-aw-jist) A doctor who specializes in the use of x-rays or other body imaging techniques. A radiologist who specializes in image-guided therapy is called an interventional radiologist.
RADIOSURGERY See STEREOTACTIC RADIATION THERAPY.
RECANALIZATION The process of restoring flow to, or reuniting, an interrupted channel of a bodily tube such as a blood vessel. In HHT this means that a vessel can regrow so that a previously coiled AVM is no longer fully blocked and will continue to shunt. Recanalization is one type of reperfusion.
REPERFUSION When a treated AVM has flow after treatment. This can occur for a variety of reasons including flow through the coils or other occlusion device, known as recanalization, filling from other pulmonary artery branches, or filling from chest wall arteries or bronchial arteries.
SCREENING Tests performed to determine the presence of an abnormality before it causes a problem. Used most often to refer to detection of lung and brain AVMs in HHT. See MRI, ECHO BUBBLE, CAT SCAN.
SEPTAL DERMOPLASTY (sep-tall DER-mow-plass-tee) A skin graft performed inside the nose to prevent nosebleeds.
SEPTUM (SEPP-tum) The wall of cartilage that divides the nose into two sides.
SHUNT The passage of blood directly from an artery to a vein. A short circuit.
STEREOTACTIC RADIATION THERAPY (stair-ee-oh-tack-tick) A metal frame is placed around the skull and x-ray is used to try to shrink an AVM of the brain. Focusing the x-ray avoids injury to the surrounding normal brain.
STROKE Occurs when part of the brain is suddenly deprived of its blood supply, causing a reduction in oxygen. This leads to weakness, numbness, and sometimes loss of consciousness that lasts longer than 24 hours. Stroke symptoms may occur in an HHT patient either due to a hemorrhage of a brain AVM or due to a clot that escaped filtering by the lungs because of a lung AVM. See also TIA.
SYSTEMIC (siss-TEEM-ick) Affecting the entire body, as opposed to focal or local, which means affecting only one area of the body.
TIA (Transient Ischemic Attack) A neurological event with stroke-like symptoms that lasts less than 24 hours. See STROKE.
TELANGIECTASIA (tell-AN-jee-eck-TAZE-ee-ya) From the Greek words telos (end), angeion (vessel), and ektasis (extension). An abnormal connection between small arteries and veins. Plural: telangiectases. These can be seen on the skin as red or purple spots. Could be described as a small AVM. See AVM.
VASCULAR (VASS-cue-lar) Used when describing blood vessels.
YAG LASER Or Nd:YAG laser. Refers to a laser emitting a beam composed of neodymium, yttrium, aluminum, and garnet. Used to treat malformations in the gastrointestinal tract and nose.
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