A case of hereditary hemorrhagic telangiectasia with dilatation of intrahepatic vessels without vascular lesions in other organs

Kanzo ◽  
2015 ◽  
Vol 56 (11) ◽  
pp. 596-602
Author(s):  
Kiyohiro Izumi ◽  
Kojiro Michitaka ◽  
Tomoe Kawamura ◽  
Toshihiko Aibiki ◽  
Tomonari Okudaira ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Lesions

scholarly journals Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Yujiro Nishioka ◽  
Nobuhisa Akamatsu ◽  
Yasuhiko Sugawara ◽  
Junichi Kaneko ◽  
Junichi Arita ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Malformations ◽  
Hereditary Disease ◽  
Vascular Lesions ◽  
Mild Anemia ◽  
Asymptomatic Patients ◽  
Japanese Male ◽  
Old Japanese ◽  
History Of ◽  
Enhanced Computed Tomography

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast-enhanced computed tomography revealed significant arteriovenous and arterioportal shunts throughout the liver. Telangiectasia from the pharynx to the duodenum was confirmed by gastrointestinal endoscopy. The patient history revealed episodes of epistaxis as well as a family history of epistaxis. He was diagnosed with HHT, although no other family member had been diagnosed with definite HHT. A diagnosis of HHT must be considered in patients with hepatic vascular malformations.

scholarly journals Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

2020 ◽  
Vol 9 (11) ◽  
pp. 3571
Author(s):  
Carmelo Bernabeu ◽  
Pinar Bayrak-Toydemir ◽  
Jamie McDonald ◽  
Michelle Letarte
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Vascular Lesions ◽  
Mechanical Trauma ◽  
Internal Organs ◽  
Second Hit ◽  
Functional Mechanisms

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous malformations (AVMs) in internal organs such as lungs, liver, and brain. Mutations in ENG (endoglin), ACVRL1 (ALK1), and MADH4 (Smad4) genes account for over 95% of HHT. Localized telangiectases and AVMs are present in different organs, with frequencies which differ among affected individuals. By itself, HHT gene heterozygosity does not account for the focal nature and varying presentation of the vascular lesions leading to the hypothesis of a “second-hit” that triggers the lesions. Accumulating research has identified a variety of triggers that may synergize with HHT gene heterozygosity to generate the vascular lesions. Among the postulated second-hits are: mechanical trauma, light, inflammation, vascular injury, angiogenic stimuli, shear stress, modifier genes, and somatic mutations in the wildtype HHT gene allele. The aim of this review is to summarize these triggers, as well as the functional mechanisms involved.

scholarly journals Identification of Retinal Vascular Lesions Using Ultra-Widefield Angiography in Hereditary Hemorrhagic Telangiectasia Patients

2019 ◽  
Vol 3 (6) ◽  
pp. 510-515
Author(s):  
Sampat Sindhar ◽  
Bliss E. O’Bryhim ◽  
Jordan Licata ◽  
Jay F. Piccirillo ◽  
Rajendra S. Apte
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Lesions ◽  
Retinal Vascular Lesions

scholarly journals Thresholds of Endoglin Expression in Endothelial Cells Explains Vascular Etiology in Hereditary Hemorrhagic Telangiectasia Type 1

2021 ◽  
Vol 22 (16) ◽  
pp. 8948
Author(s):  
Georgios Galaris ◽  
Kévin Montagne ◽  
Jérémy H. Thalgott ◽  
Geoffroy J. P. E. Goujon ◽  
Sander van den Driesche ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Growth Factor ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Clinical Manifestations ◽  
The Body ◽  
Vascular Lesions ◽  
Vascular Endothelial ◽  
Inherited Disease

Hereditary Hemorrhagic Telangiectasia type 1 (HHT1) is an autosomal dominant inherited disease characterized by arteriovenous malformations and hemorrhage. HHT1 is caused by mutations in ENDOGLIN, which encodes an ancillary receptor for Transforming Growth Factor-β/Bone Morphogenetic Protein-9 expressed in all vascular endothelial cells. Haploinsufficiency is widely accepted as the underlying mechanism for HHT1. However, it remains intriguing that only some, but not all, vascular beds are affected, as these causal gene mutations are present in vasculature throughout the body. Here, we have examined the endoglin expression levels in the blood vessels of multiple organs in mice and in humans. We found a positive correlation between low basal levels of endoglin and the general prevalence of clinical manifestations in selected organs. Endoglin was found to be particularly low in the skin, the earliest site of vascular lesions in HHT1, and even undetectable in the arteries and capillaries of heterozygous endoglin mice. Endoglin levels did not appear to be associated with organ-specific vascular functions. Instead, our data revealed a critical endoglin threshold compatible with the haploinsufficiency model, below which endothelial cells independent of their tissue of origin exhibited abnormal responses to Vascular Endothelial Growth Factor. Our results support the development of drugs promoting endoglin expression as potentially protective.

Hereditary Hemorrhagic Telangiectasia and Gastrointestinal Hemorrhage

1963 ◽  
Vol 44 (1) ◽  
pp. 1-6 ◽  
Author(s):  
C. Russell Smith ◽  
Lloyd G. Bartholomew ◽  
James C. Cain
Keyword(s):  
Gastrointestinal Hemorrhage ◽  
Hereditary Hemorrhagic Telangiectasia

Vascular trauma of the hand – a systematic review

VASA ◽  
2019 ◽  
Vol 48 (3) ◽  
pp. 205-215 ◽  
Author(s):  
Uwe Wahl ◽  
Ingmar Kaden ◽  
Andreas Köhler ◽  
Tobias Hirsch
Keyword(s):  
Duplex Sonography ◽  
Vascular Trauma ◽  
Vascular Lesions ◽  
Critical Limb Ischaemia ◽  
Limb Ischaemia ◽  
Limited Information ◽  
Endovascular Interventions ◽  
Provocation Tests ◽  
Objective Basis ◽  
Allen Test

Abstract. Hypothenar or thenar hammer syndrome (HHS) and hand-arm vibration syndrome (HAVS) are diseases caused by acute or chronic trauma to the upper extremities. Since both diseases are generally related to occupation and are recognised as occupational diseases in most countries, vascular physicians need to be able to distinguish between the two entities and differentiate them from other diagnoses. A total of 867 articles were identified as part of an Internet search on PubMed and in non-listed occupational journals. For the analysis we included 119 entries on HHS as well as 101 papers on HAVS. A professional history and a job analysis were key components when surveying the patient’s medical history. The Doppler-Allen test, duplex sonography and optical acral pulse oscillometry were suitable for finding an objective basis for the clinical tests. In the case of HHS, digital subtraction angiography was used to confirm the diagnosis and plan treatment. Radiological tomographic techniques provided very limited information distal to the wrist. The vascular component of HAVS proved to be strongly dependent on temperature and had to be differentiated from the various other causes of secondary Raynaud’s phenomenon. The disease was medicated with anticoagulants and vasoactive substances. If these were not effective, a bypass was performed in addition to various endovascular interventions, especially in the case of HHS. Despite the relatively large number of people exposed, trauma-induced circulatory disorders of the hands can be observed in a comparatively small number of cases. For the diagnosis of HHS, the morphological detection of vascular lesions through imaging is essential since the disorder can be accompanied by critical limb ischaemia, which may require bypass surgery. In the case of HAVS, vascular and sensoneurological pathologies must be objectified through provocation tests. The main therapeutic approach to HAVS is preventing exposure.

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.

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