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Background Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that primarily affects the vasculature and exhibits a broad spectrum of clinical manifestations. There is a paucity of detailed literature on its clinical characteristics. Objective This study aims to deepen the understanding of HHT's clinical aspects by documenting the presentations, management, and outcomes of 30 patients diagnosed with the condition, thereby improving recognition and treatment approaches among healthcare professionals. Methods A retrospective review was conducted on 30 HHT cases treated at Peking Union Medical College Hospital from December 2012 to September 2023, focusing on analyzing their clinical features, therapeutic interventions, and follow-up outcomes. Results The study included 8 males and 22 females, with a mean onset age of 20.0 years (range 10.5-34.0 years) and an average disease duration of 19.5 years (range 7.8-26.0 years). Epistaxis was universally present (100.0%), skin and mucosal telangiectasia were noted in 27 patients (90.0%), and 28 (93.3%) exhibited involvement of internal organs, including liver in 24 (80.0%), lungs in 15 (50.0%), gastrointestinal tract in 5 (16.7%), and brain in 3 (10.0%). Additionally, pulmonary hypertension was observed in 17 (56.7%) and iron deficiency anemia in 15 (50.0%). Genetic analysis in 15 patients identified ACVRL1 mutations in 12, ENG mutations in 2, and one patient with both. Beyond routine symptomatic care, some patients underwent targeted medical or interventional treatments, with the majority showing clinical improvement. Conclusion HHT is a systemic disorder affecting multiple organs, with frequent liver and occasional brain involvement. It commonly leads to serious complications such as pulmonary hypertension and iron deficiency anemia. Detailed patient history, thorough examinations, targeted screening of visceral vessels, and genetic testing are essential for early diagnosis and effective management in suspected cases.

The first patient, a 10-year-old girl, presented with pancytopenia and recurrent epistaxis, along with a history of repeated upper respiratory infections, café-au-lait spots, and microcephaly. Genetic testing revealed compound heterozygous mutations in the DNA ligase IV (LIG4) gene, leading to a diagnosis of LIG4 syndrome. The second patient, a 6-year-old girl, was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature, hyperpigmented skin, and hand malformations. She had a positive result from chromosome breakage test. She was diagnosed with Fanconi anemia complementation group A. Despite similar clinical presentations, the two children were diagnosed with different disorders, suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders. [ABSTRACT FROM AUTHOR]

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A boy, agcd 2 years and 5 months, had recurrent cpistaxis, and the coagulation function examination showed that activated partial thromboplastin time (APTT) was significantly prolonged. Further laboratory examinations showed that the prolonged APTT was not immediately corrected in the APTT correction test, with positive lupus anticoagulant and low prothrombin activity. The boy was diagnosed with hypoprothrombincmia-lupus anticoagulant syndrome. The condition was improved after treatment with glucocorticoid, immunoglobulin, and vitamin Kt. The boy has been followed up for 6 months, and no cpistaxis was observed. Prothrombin activity returned to normal, and lupus anticoagulant remained positive. This is a relatively rare disease, and for patients with bleeding symptoms and coagulation disorders, it is recommended to perform the tests such as APTT correction test, lupus anticoagulant testing, and coagulation factor dilution test, which can improve the detection rate of this disease, so as to achieve early diagnosis, provide rational treatment in the early stage, and improve the prognosis. [ABSTRACT FROM AUTHOR]

Activin receptor-like kinase 1 (ALK 1) is a type I receptor of the transforming growth factor β (Transforming growth factor β, TGF-β) superfamily. ALK 1 is expressed in many species, and specifically and highly expressed in endothelial cells and tissues with vigorous angiogenesis, and plays an important role in the formation and homeostasis of the blood vessel network. The abnormal expression of ALK 1 gene can cause a variety of diseases including hereditary hemorrhagic telangiectasia (HHT). This article aims to explain the ALK 1 signaling pathway, the structure of ALK 1 protein, the function of ALK 1, the diseases caused by ALK 1 abnormalities, and the anti-angiogenic therapy based on ALK 1. Research and the development of drugs targeting ALK 1 are helpful. [ABSTRACT FROM AUTHOR]

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Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose.

Objective: The aim of this study is to investigate the gene diagnosis and the treatment of hereditary hemorrhagic telangiectasia (HHT) with epistaxis as the main symptom, and to analyze the mutation of ACVRL1 gene in the family. Method: Detailed pedigree investigation was carried out on the proband.Sixtynine genes related to coagulation disorder were sequenced and analyzed by high throughput sequencing for the father and son of the proband. Result: Four generations of the family consisted of 30 probands, including 11 patients. A pathogenic mutation ACVRL1_ex9 c.1313T > C (p.M438T) was detected in both patient and his father. Conclusion: Recurrent epistaxis is the main manifestation of hereditary hemorrhagic telangiectasia in this family. The mutation of ACVRL1 gene is the pathogenic gene of this family, which can be treated by surgery and medicine., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)