HHT: When Do Frequent Nose Bleeds Signal a Rare and Dangerous Disorder?

Know the signs of hereditary hemorrhagic telangiectasia
bloody nose tissue

Anyone can get a bloody nose once in a while. But if you’ve noticed that your nose bleeds frequently, or an unusual-looking blood spot has suddenly appeared on your skin, it’s time to seek medical help.

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These symptoms might indicate a rare blood vessel disorder known as hereditary hemorrhagic telangiectasia, or HHT.

This hereditary disease predisposes patients to bleeding symptoms. Patients with HHT have abnormal blood vessels, says Joseph Parambil, MD, a pulmonary medicine specialist with Cleveland Clinic.

As Dr. Parambil explains, it’s a tricky disease to detect in the early stages. Keeping track of your family’s history of disease is an important part of diagnosis and treatment.

When does it start?

HHT can show up at just about any age, Dr. Parambil says.

“We’ve seen it anywhere from babies all the way to adulthood.”

Patients experience what’s called “age-related penetrance.” This means they have the inherited genetic mutation for HHT, but symptoms may not show up until later on in life.

Dr. Parambil says this likely means there are other factors at play in HHT, beyond known genetic mutations.

What are the symptoms?

The most obvious symptom is a bloody nose that gets worse over time. This bloody nose reoccurs without any known warning or trauma to the nose.

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“If patients have bloody noses at night and wake up with their pillow soaked, that’s one of the clues,” Dr. Parambil says.

The other tell-tale sign of HHT is called telangiectasias, or cherry-red blood spots on the face, lips or hands.

HHT is probably underdiagnosed

HHT is tricky to diagnose — and probably underdiagnosed —because it has no consistent pattern of presentation, Dr. Parambil explains.

Bleeding symptoms vary widely, even among family members. And because of age-related penetrance, patients may discover the disease as children or adults. So it’s unpredictable.

On top of that, not everyone with HHT will have nosebleeds and skin spots.

“The bigger problem with this disease is you can have these abnormal blood vessels that sit and enlarge in the lungs and brain,” he says. This can result in something catastrophic like a lung bleed or a brain bleed with a stroke—and that’s the first manifestation of the disease.

Another reason there’s underdiagnosis: Many patients and doctors simply aren’t familiar with this disease, Dr. Parambil observes.

How to get help

If you know of a family member with HHT, it’s important for you to get screened for it.

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Even in patients with no symptoms, centers such as Cleveland Clinic do genetic and clinical screening periodically. Screening may include echocardiography, CT scans of the lungs and MRI of the brain. These help find silent blood vessels “that could be sitting there and waiting” to rupture and cause serious problems, Dr. Parambil says.

If you suspect HHT, you can also seek help from The HHT Foundation.

“They’ve been very good at directing patients toward HHT centers throughout the country that have groups of physicians who specialize in HHT,” Dr. Parambil says.

Finding the right treatment

There are several treatments for patients who have chronic and recurrent nosebleeds. For example, an ear, nose and throat specialist can treat lesions with lasers, or sometimes take a patch of skin and sew it into the nose so that it doesn’t bleed.

In extreme situations, the nostrils need to be sewn shut permanently. This means the patient will have to breathe through their mouth and they will lose their sense of smell and taste. However, the procedure can be done in a way that doesn’t alter the outward physical appearance of the nose. For many patients with severe bleeds, this is a preferable alternative to getting blood transfusions every week.

Surgery was once the standard solution to treat enlarging blood vessels in the brain and lungs. “But now, with interventional radiology, we can put coils into these blood vessels and cause them to obliterate, which is an outpatient procedure,” Dr. Parambil says.

With better options available to treat and control HHT, patients are living long lives. The key is screening and looking for the disease early, Dr. Parambil emphasizes.

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