Clinical Diagnostic Criteria for HHT

CLINCIAL DIAGNOSTIC CRITERIA FOR HHT

The established diagnostic criteria for HHT are:

1. Nosebleeds (epistaxis), which are spontaneous and recurrent may be mild or severe
2. Telangiectases on the skin or mucous membranes (mucocutaneous). Telangiectases are small red spots that blanch under pressure, located at characteristic sites, including the lips, oral cavity, fingers, and nose.
3. Visceral arteriovenous malformations (AVMs), consisting of direct connections between arteries and veins. They may be located in the lungs, brain, liver, spinal cord, or GI tract.
4. A first-degree relative (brother, sister, parent or child) with HHT, based on these diagnostic criteria.

A diagnosis of HHT is considered definite when 3 or more of these features are present, possible or suspected when 2 findings are present, and unlikely with fewer than 2 findings.

There will be cases where a person has some signs of HHT, but their physician is not able to make a definitive diagnosis. In cases like this, a positive test might confirm that someone does have the condition, but a negative test will not rule it out.

What Happens If An HHT Mutation Cannot Be Detected in my Family?

Certain children and others in HHT families without detectable mutations should have medical screening for AVMs because genetic testing cannot be used to tell for sure whether they have HHT.

How Much Will Genetic Testing Cost And Will My Health Insurance Pay For Genetic Testing For HHT?

Testing the first person from a family with the comprehensive analysis of both ALK-1 and endoglin costs well over one thousand dollars. Once a mutation has been identified in a family member with HHT, testing for other family members usually costs a few hundred dollars per person.

Genetic testing is often covered by insurance but it depends on the insurance company and their particular plan. You will have to contact your insurance provider to ask if genetic testing is included in your plan and whether preauthorization is required. HHT centers and genetics clinics may be able to help if pre-authorization is needed because these genetic counselors and physicians have experience with the insurance issues involved in genetic testing.

My Family Health Portrait

The Surgeon General launched a national initiative to encourage all American families to learn more about their family health histories. Knowing your family's medical history can save your life.

The Surgeon General has created a new computerized tool to help make it fun and easy to create a sophisticated portrait of your family's health. This tool is called 'My Family Health Portrait,' and can be downloaded for free and installed on your own computer.

This tool will help you organize your family tree and help you identify your health disorders that may have moved from one generation of your family to the next. The finished product will print out a graphical representation of your family's generations-especially important for HHT families. To create a Family Health Portrait online go to: www.hhs.gov/familyhistory/