Hereditary hemorrhagic telangiectasia with pulmonary hypertension: a report of three cases
Abstract
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder characterized by multisystem vascular malformations, with a low prevalence worldwide. Pulmonary hypertension (PH), a grave complication of HHT, is associated with a poor prognosis. At present, an agreed approach to the management of HHT in patients with PH is not available. The report herein details the diagnostic and therapeutic processes of three patients with HHT complicated by PH, with the aim of providing clinical insights for practitioners.
CASE DESCRIPTION: The following report details three cases of HHT with PH. All three patients had a history of recurrent epistaxis, as well as dilated blood vessels in the skin and mucous membranes. Consequently, all patients underwent right heart catheterisation (RHC), a procedure that confirmed the diagnosis of PH in all cases. Following diagnosis, Case 1 received treatment consisting of bevacizumab in conjunction with tadalafil and macitentan, Case 2 was treated with thalidomide in combination with sildenafil and macitentan, and Case 3 received a combination of sildenafil and ambrisentan. A family history of disease was identified in all three cases, with Case 1 and Case 2 exhibiting a family history of mutations in the ACVRL1 gene. Patients were followed over a period of six months, resulting in a variety of clinical outcomes, with Case 3 succumbing during the follow-up period. These cases underscore the challenges in diagnosis and…
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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