A case of hereditary hemorrhagic telangiectasia and literature review

Han, Yu; Ding, Bingjie; Li, Mengjuan; Song, Xuewen; Liu, Liu; Zhou, Hu

doi:10.1002/jcla.24571

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…Paveldima hemoraginė telangiektazija (PHT), dar žinoma kaip Osler-Weber-Rendu sindromas, -autosominiu dominantiniu būdu paveldima liga, pasireiškianti dauginėmis visceralinėmis arterioveninėmis malformacijomis (AVM) ir telangiektazijomis odoje bei gleivinėse [1]. PHT -retas susirgimas, paplitimas varijuoja nuo 1:5 000 iki 1:10 000 gyventojų [2].…”

Section: įVadasunclassified

Paveldimos Hemoraginės Telangiektazijos Sukelto Kraujavimo Iš Nosies Gydymo Lazeriu Ypatumai

Kavaliauskaitė,

Morozas

2024

Health Sciences

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Paveldima hemoraginė telangiektazija – autosominiu dominantiniu būdu paveldima liga, paveikianti angiogenezę. Kliniškai liga pasireiškia odos, gleivinių telangiektazijomis, arterioveninėmis malformacijomis plaučiuose, kepenyse, virškinamajame trakte, smegenyse ir kraujavimu iš nosies. Dažna vieta arterioveninėms malformacijoms atsirasti – nosies gleivinė. Šioje vietoje atsiradę pažeidimai lemia spontaninį, pasikartojantį kraujavimą iš nosies, kuris yra dažniausias paveldimos hemoraginės telangiektazijos pasireiškimas ir labiausiai pacientus varginantis simptomas. Nors nėra patogenezinio gydymo, praktikoje taikomas farmakologinis ar intervencinis gydymas ligai ir jos sukeltiems simptomams kontroliuoti. Labiausiai pacientus varginantis simptomas yra kraujavimas iš nosies, todėl daug dėmesio skiriama jo gydymui. Nors literatūroje pateikiama daug gydymo variantų, vienas reikšmingiausių – lazerinė terapija.

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Section: įVadasunclassified

Paveldimos Hemoraginės Telangiektazijos Sukelto Kraujavimo Iš Nosies Gydymo Lazeriu Ypatumai

Kavaliauskaitė,

Morozas

2024

Health Sciences

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“…The most frequently associated genetic mutations involve the hereditary hemorrhagic telangiectasia (HHT) genes (ENG, ACVRL and SMAD4) and RASA1 -- which are also implicated in brain AVM and VOGM, respectively [ 9 ]. HHT is an autosomal dominant disease characterized by vascular malformations throughout the body [ 10 ]. RASA1 variants affect the RAS/MAPK signaling pathway involved in vascular endothelial cell proliferation [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Pediatric non-galenic pial arteriovenous fistula’s characteristics and outcomes: a systematic review

Thrash,

Hale,

Feldman

et al. 2024

Childs Nerv Syst

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Introduction Pediatric non-galenic pial arteriovenous fistulas (pAVFs) are rare vascular malformations that are characterized by a pial arterial-venous connection without an intervening capillary bed. Outcomes and treatment strategies for pAVFs are highly individualized, owing to the rarity of the disease and lack of large-scale data guiding optimal treatment approaches. Methods We performed a systematic review of pediatric patients (< 18 years at diagnosis) diagnosed with a pAVF by digital subtraction angiogram (DSA). The demographics, treatment modalities, and outcomes were documented for each patient and clinical outcome data was collected. Descriptive information stratified by outcome scores were classified as follows: 1 = excellent (no deficit and full premorbid activity), 2 = good (mild deficit and full premorbid activity), 3 = fair (moderate deficit and impaired activity), 4 = poor (severe deficit and dependent on others), 5 = death. Results A total of 87 studies involving 231 patients were identified. Median age at diagnosis was 3 years (neonates to 18 years). There was slight male preponderance (55.4%), and 150 subjects (81.1%*) experienced excellent outcomes after treatment. Of the 189 patients treated using endovascular approaches, 80.3% experienced excellent outcomes and of the 15 patients surgically treated subjects 75% had an excellent outcome. The highest rate of excellent outcomes was achieved in patients treated with Onyx (95.2%) and other forms of EvOH (100%). High output heart failure and comorbid vascular lesions tended to result in worse outcomes, with only 54.2% and 68% of subjects experiencing an excellent outcome, respectively. *Outcomes were reported in only 185 patients. Conclusion pAVFs are rare lesions, necessitating aggregation of patient data to inform natural history and optimal treatment strategies. This review summarizes the current literature on pAVF in children, where children presenting with heart failure as a result of high flow through the lesion were less likely to experience an excellent outcome. Prospective, large-scale studies would further characterize pediatric pAVFs and enable quantitative analysis of outcomes to inform best treatment practices.

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A case of hereditary hemorrhagic telangiectasia and literature review

Han

Ding

et al. 2022

Clinical Laboratory Analysis

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Background: To discuss the clinical features of a patient with hereditary hemorrhagic telangiectasia (HHT). Methods:The clinical data of one patient with HHT are retrospectively analysed. In addition, we review the relevant literature.Results: A 32-year-old male patient was admitted to the hematology outpatient department of our hospital and presented with intermittent epistaxis for 24 years. In recent years, he was diagnosed with iron deficiency anemia. The nasal endoscopic examination showed telangiectasia at the front of the right-middle turbinate and the left nasal cavity. He had ENG genetic mutation positivity.Conclusions: Patients with HHT may suffer from many complications, including bleeding, anemia, iron deficiency, and high-output heart failure. These patients may have telangiectasias and arteriovenous malformations in various organs.

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A case of hereditary hemorrhagic telangiectasia and literature review

Cited by 3 publications

References 14 publications

Paveldimos Hemoraginės Telangiektazijos Sukelto Kraujavimo Iš Nosies Gydymo Lazeriu Ypatumai

Paveldimos Hemoraginės Telangiektazijos Sukelto Kraujavimo Iš Nosies Gydymo Lazeriu Ypatumai

Pediatric non-galenic pial arteriovenous fistula’s characteristics and outcomes: a systematic review

A case of hereditary hemorrhagic telangiectasia and literature review

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