Hereditary Hemorrhagic Telangiectasia: A Primer for Critical Care Nurses

Abstract

Hereditary hemorrhagic telangiectasia is a rare, autosomal dominant genetic disease that causes abnormal growth of blood vessels and, subsequently, life-threatening arteriovenous malformations in vital organs. Epistaxis may be one of the initial clues that a patient has more serious, generalized arteriovenous malformations. Recommended treatment involves careful evaluation to determine the severity and risk of spontaneous rupture of the malformations and the management of various signs and symptoms. The disease remains undiagnosed in many patients, and health care providers may miss the diagnosis until catastrophic events happen in multiple family members. Prompt recognition of hereditary hemorrhagic telangiectasia and early intervention can halt the dangerous course of the disease. Critical care nurses can assist with early diagnosis within families with this genetic disease, thus preventing early death and disability.

Mortalidad atribuida a telangiectasia hemorrágica hereditaria y variabilidad geográfica en España (1981-2016)

“…El diagnóstico definitivo se establece si cumple tres criterios, mientras que con dos criterios se cataloga de caso sospechoso, y con uno es poco probable 30 . El diagnóstico genético se realiza para identificar la presencia de una mutación, siendo esta particularmente importante al evaluar a la descendencia de las personas afectadas por su característica de enfermedad autosómica dominante 31,32 . Sin embargo, es conocido su infradiagnóstico tanto nacional 33 como internacional 34,35 , originado por las características propias de la enfermedad que dificultan su identificación temprana 36 .…”

Urologic Surgery with Multisystem Comorbidities: A Case Report

“…Hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome, is an inherited autosomal dominant genetic disorder resulting in cutaneous telangiectasias and abnormal arterial and venous malformations (AVMs) that can often lead to bleeding and embolic sequela in fragile pulmonary, gastrointestinal, hepatic, spinal, and cerebral vessels [ 1 – 7 ]. Diagnosis is definite, possible, or unlikely based on the Curçao Criteria, including spontaneous recurrent epistaxis, telangiectasias, AVMs, and a familial inheritance pattern [ 1 – 3 , 5 , 6 ]. Disease subtype (1–4) is based upon the identified gene mutation, which includes active receptor-like kinase 1 gene (ALK1), endoglin gene (ENG), and mothers against decapentaplegic homolog 4 gene (MADH4), which are involved in the TGF-beta signaling pathway [ 1 – 3 , 5 , 7 , 8 ].…”

“…Diagnosis is definite, possible, or unlikely based on the Curçao Criteria, including spontaneous recurrent epistaxis, telangiectasias, AVMs, and a familial inheritance pattern [ 1 – 3 , 5 , 6 ]. Disease subtype (1–4) is based upon the identified gene mutation, which includes active receptor-like kinase 1 gene (ALK1), endoglin gene (ENG), and mothers against decapentaplegic homolog 4 gene (MADH4), which are involved in the TGF-beta signaling pathway [ 1 – 3 , 5 , 7 , 8 ]. Epistaxis is common due to vascular malformations of the oropharyngeal mucosa [ 1 ].…”

“…Epistaxis is common due to vascular malformations of the oropharyngeal mucosa [ 1 ]. Hemoptysis also occurs with less frequency due to the presence of pulmonary AVMs in 40–60% of patients [ 1 , 3 , 5 ]. Pulmonary hypertension recognized in patients either preceding or following the diagnosis of HHT can be a severe manifestation, for which the genetic basis remains undetermined [ 2 , 7 , 8 ].…”