Treatment of HHT

Most major manifestations of HHT, including AVMs and ruptured telangiectases, are very treatable. They cannot yet be prevented and HHT cannot yet be cured, but the options for treatment allow HHT patients to live normal lives. It can take some time to find the right treatment for you, but don’t give up! HHT is indeed very treatable and there are experts who want to help you develop a treatment plan specific to your HHT.

Nosebleed Treatments

90% of individuals affected by HHT will develop chronic nosebleeds. In some people nosebleeds may be an uncommon occurrence and one that is easily managed, while others may have multiple nosebleeds every day. The Epistaxis Severity Score (ESS) is a useful tool for tracking nosebleeds to help determine whether treatment is necessary. If you do receive treatment you can use the ESS to track the effectiveness of the procedure.

If your HHT physician determines that you need treatment for nosebleeds, there are several options available to you:

  • 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 it needs to be repeated periodically.
  • Embolization blocks an artery and typically stops nosebleeds that have been unresponsive to other treatments. Embolization is only effective for 6-8 weeks and is used primarily for emergencies.
  • The following therapies should be tried in this order, from least to most invasive:
    • Moisturizing topical therapies keep the nose from getting too dry to prevent nosebleeds
    • Oral tranexamic acid
    • Laser treatment, radiofrequency, electrosurgery, and sclerotherapy
    • Systemic antiangiogenic agents
    • Septodermoplasty
    • Nasal closure surgery: very effective, though patients can no longer breathe through the nose, and senses of taste and smell can be affected (Faughnan et al.,2020).

AVM Treatments

Not all AVMs require treatment. Screening by an HHT expert is the best way to determine what course is best for you. If your physician decides that you need to treat your AVMs, there are several treatment options available:

  • Embolization: In this procedure, a catheter is used to place a small medical device or quantity of glue (glue is only used in the case of brain VM) inside an artery. This device blocks the AVM and reduces or stops the blood flow to an AVM to relieve the pressure on the walls of the blood vessel.
  • Surgical Treatment: Surgical procedures remove the part of the tissue that contain the AVM.
  • Radiosurgery (or gamma knife): This procedure uses focused radiation to destroy the AVM tissue.
  • Laser ablation: This procedure focuses a laser to remove material on the surface of the tissue. The amount of material removed depends on the intensity, pulse length, and wavelength of the laser.
  • Drug therapy: There are several types of drugs used to treat HHT that come in different forms (oral, IV, topical) and vary in effectiveness depending on the type and severity of manifestations in an HHT patient. Be sure to consult your HHT physician to understand your options of drug therapies.
    • Antifibrinolytic drugs (e.g. tranexamic acid or aminocaproic acid)
    • Antiangiogenic drugs (e.g. bevacizumab, pomalidomide or pazopanib)
    • Antibiotics (e.g. doxycycline)
    • Immunosuppressants (e.g. sirolimus or tacrolimus)

The recommended treatment for AVMs depends almost entirely on the size of the malformation and its location in the body. AVMs can develop and change over time, so periodic screenings are important to ensure your safety and help.

Cerebral AVMs are rare and treatment can have risks. Each HHT patient with CVMs will be treated differently. 

Pulmonary AVMs require long-term follow-up to ensure treatment remains successful.

Lung AVM

Consequences of lung AVMs can include stroke, hypoxia, and 

Adults:

  • Embolization may be used to treat Lung AVMs to prevent stroke and brain abscess. Embolize PAVMs with FA>2-3mm in adults (many HHT Centers us FA>2mm threshold).
  • The surgical procedure for Lung AVMs removes the part of the lung containing the AVM.

Pregnant patients:

  • Embolize PAVMs in pregnancy starting in second trimester (after organogenesis).
    • Use of abdominal shielding during screening is not helpful and may increase scattered radiation to the fetus.

Children:

  • Embolize lung AVMs in children that are large (FA>3mm) or associated with hypoxia, and follow long term.

 

Long-term advice for patients with documented PAVMs (treated or untreated):

  1.  Use antibiotic prophylaxis for procedures with risk of bacteremia (e.g. dental procedures, colonoscopy, etc)
  2.  When IV access is in place, take extra care to avoid IV air
  3.  Avoid SCUBA diving. 
  4.  Follow screening guidelines in order to detect growth of untreated pulmonary AVMs and also reperfusion of treated AVMs.
Brain VM

Brain VMs that present a risk of rupture or hemorrhagic stroke should be treated.

Treatment options:

  • Embolization therapy blocks blood flow to the VM by using an embolizing agent such as coils, plugs, etc. Embolization is a less invasive procedure than traditional surgery. 
  • Surgical removal (resection) of brain VM.
  • Stereotactic radiosurgery (SRS) uses focused radiation to treat abnormalities in the brain and spine. Despite it's name, stereotactic radiosurgery is not a surgical procedure.

Recommendations for pregnant patients:

  • Pregnant patients with brain VM should defer treatment until after delivery. Presence of brain VM does not change standard delivery procedures.

Recommendations for children:

  • Brain VMs with high risk features should be treated.

Free second opinion neurological consults are available through Barrow Neurological Institute HHT Center of Excellence. Patients may contact the navigator directly by calling the toll-free number 1-888-BNI-4HHT or may submit electronic requests for a neurosurgical second opinion at https://www.barrowneuro.org/patient-care/your-journey/im-looking-for-a-second-opinion/

Liver VM

Liver VMs are common but typically do not require treatment. If treatment is required, it is essential that an HHT Center physician is consulted regarding the best option. Procedures to treat Liver VMs can be very invasive and have the potential to worsen the condition of the patient if an HHT specialist is not involved.

GI Tract AVM

AVMs are common in the GI Tract, usually in the stomach and upper portion of the small intestine. When necessary, intestinal AVMs can be treated by laser, tranexamic acid, IV Avastin and other angiogenesis inhibitors. The most significant problem with intestinal AVMs is anemia caused by chronic bleeding. Anemia can be treated separately from the AVM with oral iron supplements, iron infusions, and/or blood transfusions.

Spinal AVM

Spinal AVMs are rare, but if detected embolization and surgical treatments are effective in treating spinal AVMs. 

Iron Deficiency

People with HHT who suffer from bleeding should be routinely screened for iron deficiency. It is important that iron deficiency be treated aggressively, by replacing the iron stores in the body. There are multiple methods of replacing iron stores.

Read the 2020 HHT International Guidelines recommendations for Anemia & Anticoagulation

Iron Rich Food

Heme iron (from meat) is more easily absorbed by the body, while non-heme iron (from meat and plant sources) is harder to absorb. Because vegetarians only consume non-heme iron, their bodies cannot absorb as much of it, so they are at a higher risk for iron deficiency. If you are deficient in iron, your body will absorb more of it from food than it would if you had good iron stores.

Here are some easy ways to increase your intake and absorption of iron:

  • Consume iron with a source of vitamin C to increase absorption. Many fruits, vegetables, and juices are good sources of vitamin C, including citrus fruits and juices, cantaloupe, strawberries, broccoli, peppers, and tomatoes (e.g. drink a glass of orange juice with your morning oatmeal)
  • Meat enhances absorption of non-heme iron (e.g. beef in chili will help you absorb the iron in kidney beans)
  • Cooking meals in cast iron pans allows iron from the pan to be absorbed by the food

Read more on Pumping Iron in HHT

Oral Iron Supplements

Iron stores can be replace by taking iron by mouth in the form of iron supplements (tablets, liquid, suspension or elixir). Consult your HHT Center physician for recommended products and dosage. Oral iron can be associated with gastrointestinal side effects such as nausea, bloating, and constipation that frequently limit their use.

In individuals with severe iron deficiency anemia or frequent/severe bleeding, oral iron may not be enough to restore iron stores. In these cases, it is important that treatment with IV iron be considered.

Intravenous (IV) Iron

A hematologist may consider intravenous (IV) iron if a patient is intolerant of oral iron or has ongoing blood loss. There are several IV iron products that can be recommended, consult your HHT physician for dosage amounts and time required to administer the dose. 

Advantages of IV iron:

  • Larger amounts of iron can be replaced at a time
  • Reliability and not impacted by dietary issues
  • Little to no GI side effects (which are common with oral iron)

Disadvantages of IV iron:

  • Time and cost
  • Side effects, such as weakness, body aches and headaches
  • Risk for serious reaction (anaphylaxis)
  • Possible worsening of nosebleeds
Red Blood Cell Transfusions

A blood transfusion provides the part or parts of blood that you need to replenish due to blood loss. Red blood cells (RBC) are the most commonly used type of blood transfusion in the treatment of HHT patients (as well as in the general population).

RBC transfusions are necessary when the patient has:

  • Hemodynamic instability/shock
  • Comorbidities that require a higher hemoglobin target
  • A need to increase the hemoglobin acutely, such as prior to surgery or during pregnancy
  • An inability to maintain an adequate hemoglobin despite frequent iron infusions (Faughnan et al.,2020).
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