Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy

Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia

“…Epistaxis in HHT patients are related to anxiety, frustrations, and social stigma [17]. Geirdal et al showed that the HHT patients in general are affected on general health, role emotional, vitality and social functioning, using the SF-36 [18].…”

Cryptic brain abscess ‐ do not forget hereditary hemorrhagic teleangiectasia!

“…Finally, some patients may be aware of the disease presence; however, in the absence of major symptoms they prefer not to have HHT diagnosed, in order to avoid the stigma of being a genetic disorder carrier. These reasons may be more prevalent in younger adults and in smaller communities 7 …”

“…These reasons may be more prevalent in younger adults and in smaller communities. 7 In approximately one-fourth of brain abscesses, the source of infection cannot be identifed; thus, these cases are classified as "cryptic." 7 Notably, brain abscesses can be found in 1% of HHT patients and are typically caused by peridontal infections and septic emboli to the brain due to transitory bacteremia and right-to-left shunting in pulmonary AVMs.…”

“…7 In approximately one-fourth of brain abscesses, the source of infection cannot be identifed; thus, these cases are classified as "cryptic." 7 Notably, brain abscesses can be found in 1% of HHT patients and are typically caused by peridontal infections and septic emboli to the brain due to transitory bacteremia and right-to-left shunting in pulmonary AVMs. [4][5][6] On the other hand, our case illustrates that, on rare occasions, brain abscesses may occur in HHT regardless of the presence of pulmonary AVMs.…”