Hereditary haemorrhagic telangiectasia I78.0

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Familial hemorrhagic telangiectasia; hereditary hemorrhagic telangiectasia; HHT; HHTI; OMIM: 187300; OMIM: 600376; Osler M.; Osler's disease; Rendu-Osler syndrome; Rendu-Osler-Weber disease; Teleangiectasia hemorrhagica hereditaria; Teleangiectasia hereditaria hemorrhagica

History
This section has been translated automatically.

Sutton, 1864; Babington, 1865; Legg, 1876; Osler, 1901; Rendu, 1896

Definition
This section has been translated automatically.

Autosomal-dominant hereditary, hereditary systemic disease of increasing severity over the course of a lifetime with telangiectasia, arteriovenous aneurysms in the skin, mucous membrane and internal organs as well as recurrent bleeding. S.a. organoid naevi.

Occurrence/Epidemiology
This section has been translated automatically.

Frequency 1:5000 - 1:40,000 depending on population group

Etiopathogenesis
This 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.

Manifestation
This section has been translated automatically.

Teleangiectasia is already possible in childhood, more pronounced and hemorrhagic diathesis in the 2nd or 3rd decade of life.

Localization
This section has been translated automatically.

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 features
This 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.

Laboratory
This section has been translated automatically.

Hypochromic anemia.

Histology
This section has been translated automatically.

Ectatic, thin-walled capillaries, capillary neoplasms in the upper corium, dilated vessels in the deeper corium.

Diagnosis
This 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).

Differential diagnosis
This section has been translated automatically.

Therapy
This section has been translated automatically.

A causal therapy is not possible. The aim of the therapy is the early detection and stopping of any bleeding that may occur. Smaller angiomas or possibly existing naevi aranei can be treated with laser treatment(argon, pulsed dye laser). Cooperation with the internist and ENT physician.

Progression/forecast
This section has been translated automatically.

In 5% of cases lethal outcome by bleeding to death.

Literature
This section has been translated automatically.

  1. Babington BG (1865) Hereditary epistaxis.The Lancet (London) 2: 362-353
  2. Legg JW (1876) A case of haemophilia complicated with multiple naevi. Lancet 2: 856
  3. Long D, Marshman G (2004) Generalized essential telangiectasia. Australas J Dermatol 45: 67-69
  4. Ocran K et al (2003) Hereditary hemorrhagic teleangiectasia (Osler-Weber-Rendu disease). German Med Weekly 128: 2593-2597
  5. 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
  6. 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.
  7. 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
  8. Sutton HG (1864) Epistaxis as an indication of impaired nutrition, and of degeneration of the vascular system Medical Mirror (London) 1: 769-781

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020