Treatment of HHT

 

The recommended treatment guidelines for each organ impacted by HHT are outlined in the HHT International Clinical Guidelines, published in the Journal of Medical Genetics.

HHT can be treated, however, there is not yet a way to prevent the telangiectasias or AVMs from occurring, most can be treated once they occur. They should be treated if they are either causing a significant problem (as in the case of frequent nosebleeds) or if they have a high risk to cause a problem (such as a stroke from a lung AVM or brain AVM). The current recommended treatment for a telangiectasia or AVM depends on both its size and location in the body.

Treatment of Recurring Nosebleeds

The Epistaxis Severity Score (ESS) is a way to monitor the severity of your nosebleeds and their response to treatment. This is a simple score that is calculated automati- cally when you answer six simple questions about your nosebleeds. Access the ESS online tool.
Home Treatment:  Through one or more treatments, an Otolaryngologist (ENT) can significantly improve the severity of nosebleeds for almost everyone, although it is rare for these treatments to permanently cure one’s nosebleeds. Nose- bleeds sometimes respond satisfactorily to simple treatments that can be implement- ed at home. It is very important to avoid any injury to the nose such as picking or blowing hard. Humidification of the air and lubrication of the nose (with saline spray) can reduce nosebleeds. If home treatments do not result in a satisfactory reduction in nosebleed frequency or severity, the next treatment that is usually considered is some type of medicated spray/ointment or some type of coagulation therapy.

Medical Treatment:  Coagulation therapy is often the quickest way to stop nosebleeds, but there is some controversy as to the best way to do this. Many experts believe that laser coagulation therapy is preferable to electric and chemical cautery because it causes less damage to the inside of the nose. However, some experts have re- ported good success with bipolar electric cautery. Regardless of the method used, it is important to have coagulation therapy by someone who has expertise in treat- ment of HHT patients. Most patients who undergo coagulation therapy see significant improvement for a period of time, but it usually needs to be repeated periodically. Sprays and ointments containing medicines like estrogen, bevacizumab (Avastin), and tranexamic acid have been used in small numbers of patients and are currently being studied in clinical trials.

Several small research studies have suggested that various oral therapies can help some patients for whom the local therapies (i.e. home moisturizing care and laser therapy) have not been successful. Birth control pills have been used the most, and while they do seem to help some patients, they have significant side effects. Drugs that affect either the formation of clots or blood vessels are being investi- gated (i.e., estrogens, tamoxifen, n-ace- tylcysteine, bevzcizumab (Avastin), and others) to examine the effectiveness and safety of these drugs. We encourage patients to participate in these research studies if they have permission from their doctor.

Surgical Treatment: Septal Dermoplasty and Young’s Nasal Closure Procedure are surgical treatment options for nosebleeds, but are usually only considered when nose- bleeds are severe, significantly affecting one’s quality of life and coagulation therapy has repeatedly failed to help. Septal dermoplasty replaces the thin lining of the nose with a graft of thicker skin from somewhere else on the body. When performed by an ENT experienced with treating HHT patients, it can significantly reduce or stop nosebleeds, often for two or more years. Daily care of the nose is required after septal dermoplasty to keep the nose moist and clean. Also new vessels can grow around the graft and nosebleeds may return. In the Young’s procedure, the nostrils are sewn closed so a person no longer breathes through their nose. This therapy is quite effective but the downside is that taste and smell are affected.

Embolization: This procedure blocks an artery which, in most cases, stops severe nosebleeds that have been unresponsive to other treatments. This procedure is usually only effective for 6-8 weeks; other arteries enlarge and cause recurrence. This therapy for the nose should be used only on an emergency basis until more durable therapies can be started.

Treatment of Pulmonary (Lung) AVM

Pulmonary AVM (PAVM) are seen in about 40% of patients, and are especially common if someone else in your family has them. However, about 30-40% of patients have PAVM large enough to require treat- ment. PAVM are potentially one of the most serious complications of HHT because they can result in strokes or brain abscesses. The good news is that these complications can be prevented in almost all cases.

Embolization:  A tiny metal coil or a small balloon is inserted to block off the artery that leads into or “feeds” the PAVM. This stops the blood flow to the PAVM which eliminates the occurrence of a potentially life-threatening complication.This is accomplished by passing a small catheter through a vein in the leg and then passing it up to the arteries of the lungs. This procedure is usually performed under conscious sedation.

Surgical Removal:  A surgical procedure to remove the part of the lung that contains the PAVM. Because of the success of embolization, surgery is rarely necessary.

If you have a known PAVM or if you have not been screened to determine if you have a PAVM, you should take the following precautions:

  • Take antibiotics before any invasive procedures like dental cleaning, surgical procedure, or colonoscopy.
  • A .22 micron IV filter is recommended to keep air out of the IV line (does not apply to blood transfusions or CT scans when using contrast) *see full disclosure on p.13 of Learn About HHT Brochure
  • Avoid blood thinners or nonsteroidal anti-inflammatory medicines like aspirin and ibuprofen as they can worsen bleeding tendencies.
  • Return to your HHT Treatment center every 3-5 years so that you can be monitored for development of new PAVM.

Treatment of Cerebral (Brain) AVM

It is thought that 5-20% of HHT patients have at least one Brain AVM (BAVM). Without treatment, BAVM are a common cause of hemorrhagic stroke in HHT families. Research is currently being conducted to determine what genetic and clinical factors signal high risk hemorrhage from brain AVMs in HHT patients. It is recommended that all children of HHT families be screened for brain AVMs as early as birth and throughout adolescence (until post-puberty) to monitor the development of new BAVM.

Embolization:  A small catheter is passed through an artery in the leg and then into the arteries of the brain. A small balloon or glue is inserted which stops the blood flow into the AVM and lessens the risk of stroke. Typically, this procedure is successful more than 95% of the time and has a relatively low complication rate.
Surgical Removal:  A surgical procedure to place a clip on the AVM or to remove the AVM. This procedure is fully curative,but has a higher complication rate than embolization.
Gamma Knife:  A type of focused radiation that destroys the AVM tissue. This is often done after embolization to ensure that the AVM is cured.

Treatment of Intestinal AVM

A large percentage of patients with HHT have intestinal AVM, but only 20% of HHT patients develop significant stomach or intestinal bleeding. Bleeding usually does not occur before age 50. These AVM can usually be detected by endoscopy, which involves inserting a flexible tube with a camera on the end through your mouth or rectum to look inside the intestines, and treated with a laser. Other treatments include oral hormone pills (estrogen and danazol) and tranexamic acid (Amicar). Research has not proven the effectiveness or potential risks of these treatments.

The biggest problem with intestinal bleeding is that it leads to anemia. Anemia is generally treated by a hematologist. Common remedies include oral or intravenous iron therapy and blood transfusion.

Treatment of Symptomatic Liver Involvement

Liver AVMs are currently treated only if a patient shows signs of heart failure or other significant problems. Embolization of liver AVM has led to severe complications in several patients and therefore is not usually first line treatment.

Current treatment options for liver AVM include standard heart failure treatment, liver transplantation, and possibly medications like bevacizumab (Avastin). Decisions regarding treatment of liver AVM are made on a case-by-case basis and should be managed by an HHT Treatment Center physician who is very familiar with the liver manifestations of HHT.

Abnormal blood vessels in the liver (AVM) are common in HHT but usually require no treatment. When liver abnormalities are detected by X-rays or blood tests, it is vitally important that the following procedures noT Be done without seeking the opinion of an HHT Treatment center physician:

  • LIVER EMBOLIZATION (blocking the hepatic artery with particles)
  • LIVER BIOPSY (sampling the liver tis sue with a small needle)
  • ERCP (endoscopic retrograde cholan- giopancreatography—which is passing a tube through the mouth into stomach, duodenum, and biliary ducts).

The invasive procedures listed above can potentially make an HHT patient much worse if not done in consultation with an HHT specialist. Similarly, routine screening for liver abnormalities is not recommended by most HHT Centers at this time. Sudden events leading to serious disability, such as those that occur from lung and brain AVMs in HHT patients, do not occur from liver involvement in HHT.