When a person with HHT, or a person with a family history of HHT, contacts the HHT Center at HUP, an initial appointment will be made to be see a clinical geneticist and a genetic counselor in the Medical Genetics Clinic. Before the appointment, someone from the Center staff will speak with the patient briefly to review the medical and family history, and discuss which medical records should be forwarded to the Center for review. Release of medical record forms are usually required and will be provided by the Center. Some procedures, such as a contrast echocardiography (a “bubble study”), or an MRI of the head or abdomen, may be scheduled for the day of the Medical Genetics Clinic visit. Consultations with other specialists, such as an ENT physician or a dermatologist, may also be scheduled, based on the individual patient needs. It is not always possible or preferable to schedule these consultations for the same day as the visit to the Medical Genetics Clinic.
The HHT Center at the University of Pennsylvania is one of two sites in the United States that provides testing of DNA from a blood specimen to identify the alteration in one of the two currently identified HHT genes (Endoglin and Alk-1). If appropriate for a person with definite HHT, the testing can be performed to identify the mutation. Once the mutation is identified in the family, other relatives, whether or not they show signs of HHT, can be tested, as long as counseling is provided and consent obtained before testing.
Tests and visits with different specialists are billed separately. Therefore, multiple insurance authorizations may be necessary. If several individuals from the same family are to be seen, such as a parent and a child, each will be billed separately.
Following the visit to the Medical Genetics Clinic, a detailed report of the visit will be sent to the patient and to the patient’s doctor/s. This report will summarize the patient’s history, physical findings and recommendations for follow-up care.
For more information, see the website of the HHT Foundation International.
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