HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
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Occurrence/EpidemiologyThis section has been translated automatically.
Frequency 1:5000 - 1:40,000 depending on population group
EtiopathogenesisThis section has been translated automatically.
Type 1: autosomal-dominantly inherited mutations of the endoglin gene (HHT 1 gene or ENG gene; gene locus: 9q34.1; OMIM 187300) with consecutive disruption of endoglin.
Type 2: autosomal-dominantly inherited mutations of the activin A receptor, type II-like kinase 1 gene (HHT2 gene or ACVRLK1 gene; gene locus: 12q11 - 12q14; OMIM 600376) with consecutive disruption of activin A receptor-like kinase 1.
Type 3/4: other rare diseases are known. In familial juvenile polyposis, point mutations and large deletions in the SMAD4 gene (MADH4, DPC4 gene) are found in 30% of patients and in the BMPR1A gene in 20-25%. Patients with a SMAD4 germline mutation have an increased risk of developing gastric polyps and gastric cancer as well as hereditary hemorrhagic telangiectasia.
The individual phenotypes differ only slightly from each other, despite different genotypes. Type 1 is manifested earlier and shows AV shunts of the lung.
ManifestationThis section has been translated automatically.
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Occurs mainly on the face (cheeks, zygomatic bone, auricles, lips, cheek and nose mucous membranes), chest, hands, feet, gastrointestinal tract (recurrent gastrointestinal bleeding), leptomeninx and retina.
Clinical featuresThis section has been translated automatically.
Teleangiectasia and angioma nodules: Blue-red to dark-red, glass pinhead-sized nodules, dome-shaped, protruding above the skin level, which can be pushed away with a glass spatula and initially become clinically noticeable on lips and tongue.
Bleeding from the nose (recurrent spontaneous epistaxis in 70-90% of patients), mouth, gastrointestinal tract and urogenital tract is typical. Arterio-venous shunts may be present, possibly with large shunt volume in the CNS and liver.
Paresthesias and Raynaud-like circulatory disorders rarely occur.
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DiagnosisThis section has been translated automatically.
Angiomas, bleeding propensity, heredity.
Diagnostically, an MRI of the CNS is recommended to exclude an arterio-venous malformation and a pulse oximetry (AV shunt of the lung).
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LiteratureThis section has been translated automatically.
- Babington BG (1865) Hereditary epistaxis.The Lancet (London) 2: 362-353
- Legg JW (1876) A case of haemophilia complicated with multiple naevi. Lancet 2: 856
- Long D, Marshman G (2004) Generalized essential telangiectasia. Australas J Dermatol 45: 67-69
- Ocran K et al (2003) Hereditary hemorrhagic teleangiectasia (Osler-Weber-Rendu disease). German Med Weekly 128: 2593-2597
- Osler WB (1901) On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Johns Hopkins Hosp Bull 12: 333-337
- Rendu M (1896) Epistaxis répétés chez un sujet porteur de petits angiomes cutanés et muqueux.Lancette française: gazette des hôpitaux civils et militaires (Paris) 69: 1322-1323.
- Sadick H et al (2003) Argon plasma coagulation and topically applied estriol. Long-term results in the treatment of hereditary hemorrhagic telangiectasia of the nasal mucosa. HNO 51:118-124
- Sutton HG (1864) Epistaxis as an indication of impaired nutrition, and of degeneration of the vascular system Medical Mirror (London) 1: 769-781
Incoming links (22)Angioma seniles; Angioma seniles; Angioma serpiginosum; Angioma serpiginosum; Blue rubber bleb nevus syndrome; Blue rubber bleb nevus syndrome; Chromosome 9; Dermadrome; Endoglin; Fabry's disease; ... Show all
Outgoing links (10)Angioma; Angioma seniles; Dermis; Fabry's disease; Familial juvenile polyposis; Laser; Naevus; Nevus araneus; Scleroderma systemic; Teleangiectasia;
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