IllnessRendu-Osler-Weber disease, differential diagnosis

NGS +

[Sanger]

Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia) is a rare disorder that affects blood vessels throughout the body, causes vascular dysplasia and leads to a tendency to bleed. The prognosis varies depending on the severity of the symptoms, but is generally good. Muco-cutaneous telangiectasias and arteriovenous malformations occur as well as lesions in the nasopharynx, central nervous system, lungs, liver, spleen and in the urinary and gastrointestinal tracts, conjunctiva, trunk etc. 50% of patients have nose bleeds by their tenth birthday, >80% by the age of 21. Practically all of them develop recurrent epistaxis and later (muco-)cutaneous telangiectasias. Cerebral arteriovenous malformations are almost always congenital. Hereditary hemorrhagic telangiectasia is inherited autosomal dominantly with considerable intrafamilial variability and age-related penetrance with more manifestations in older age. The diagnostic yield is over 75%. An inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1351/

• Alias: Hereditary haemorrhagic telangiectasia
• Alias: Hereditäre hämorragische Teleangiektasie
• Alias: Morbus Osler
• Alias: Osler-Weber-Rendu Disease
• Alias: Rendu-Osler disease
• Allelic: Basal cell carcinoma, somatic (RASA1)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Lymphatic malformation 7 (EPHB4)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Pancreatic cancer, somatic (SMAD4)
• Allelic: Polyposis, juvenile intestinal (SMAD4)
• Allelic: Pulmonary arterial hypertension (ACVRL1)
• Allelic: Pulmonary hypertension, familial primary, 1, with/-out HHT (BMPR2)
• Allelic: Pulmonary hypertension, primary, fenfluramine-/dexfenfluramine-associated (BMPR2)
• Ataxia-telangiectasia (ATM)
• Capillary malformation-arteriovenous malformation 1 (RASA1)
• Capillary malformation-arteriovenous malformation 2 (EPHB4)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Pulmonary venoocclusive disease 1 (BMPR2)
• Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
• Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
• Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
• von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3