Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the diagnostic significance of the combination of clinical and genetic detection of hereditary hemorrhagic telangiectasia (HHT) by analyzing the clinical and genetic diagnosis of a family with HHT. Methods: Medical history data of the probands and their family members were collected, and the sequence analyses of coding regions of ENG, ACVRL1, SMAD4 and GDF2 genes were performed by PCR-sequencing method, and a comprehensive diagnosis was made based on the clinical features and gene detection results. After the pathogenic gene variation was identified, 11 members of 3 generations of the family were tested for pathogenic gene mutation. Results: There was an ACVRL1 c.715_716delAG mutation in the proband and 9 other family members, which caused p.S239C. Based on the clinical and genetic findings, the 7 suspected were diagnosed and 2 asymptomatic patients were found to carry the mutation site. Conclusion: The combination of clinical features and gene detection can determine the etiology and classification of HHT, which is convenient for the early diagnosis and prevention of the disease.

Síndrome de Rendu Osler Weber o telangiectasia hemorrágica hereditaria: presentación de un caso y revisión de la literatura / Rendu Osler Weber syndrome or hereditary hemorrhagic telangiectasia: case report and literature review

Paciente femenina de 57 años portadora de Telagiectasia hemorragia hereditaria con antecedentes de padre y dos hermanos portadores de igual patología. Enfermedad genética con transmisión dominante caracterizada por telangiectasias (malformaciones vasculares pequeñas) en la piel y en el revestimiento de las mucosas, epistaxis y malformaciones arteriovenosas en varios órganos internos incluyendo cerebro y pulmones. En 1909, Hanes le da el nombre de HHT. En 1999 se definió los criterios diagnósticos: epistaxis, Telangiectasias, lesiones viscerales, historia familiar. Se han descrito cuatro tipos: HHT1, HHT2, HHT3, poliposis juvenil y HHT4. El TGFâ-1 ha sido más comúmente en su fisiopatología.

Hereditary hemorrhagic telangiectasia Genetics, pathogenesis, clinical manifestation and management

Hereditary hemorrhagic telangiectasia HHT, Morbus Osler or Osler-Weber-Rendu syndrome OMIM 187300, is an autosomal dominant disorder characterized by epistaxis, telangiectasia, multi-systemic vascular dysplasia and clinical presentation of wide variation. The pathogenesis involves dilated post-capillary venules or telangiectases in the mucus membrane of various organs as well as larger arteriovenous malformations. Genetic heterogeneity of HHT is confirmed; 2 disease loci, ACVRL1 and ENG genes, have been identified and characterized. The 2 major types of the disease, HHT1 and HHT2, are attributed to mutations in the ENG and ACVRL1 genes. ENG and ACVRL1 genes code for proteins, namely endoglin and activin-receptor-like kinase 1 ALK-1, which are members of the TGF-beta receptor family, are essential for maintaining vascular integrity. Another gene has been implicated in HHT; the HHT3 locus linked to chromosome 5. In the last 2 decades, the genetics, pathogenesis, clinical manifestations and management of HHT have been extensively researched. At this stage, it is deemed appropriate to review the wealth of information accumulated on the topic. Better understanding of the functions of endoglin, ALK-1, and other proteins involved in the pathogenesis of HHT should facilitate better management of patients with this disorder