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Genetic Diagnosis Guides Treatment Path

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Mark (47 years of age) had suffered from epistaxis since he was a teenager, with cutaneous telangiectasia of the nasal mucosa. He had diffuse facial cutaneous angiomas, had a pulmonary embolism at age 40 and was treated for arterial hypertension.

His 70-year-old mother, who had recently had a stroke, also had a long history of sporadic epistaxis. His Internist requested genetic testing to confirm or exclude Rendu-Osler disease (Hereditary hemorrhagic telangiectasia, HHT). A 4-gene panel was analysed, revealing a disease-causing variant in ACVRL1 and confirming the diagnosis of HHT-type-2.

The same variant was identified in Mark’s mother, in concordance with the dominant transmission of HHT2. Based on confirmed diagnosis the family can now be followed according to International Treatment Guidelines for HHT.

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