A 50-Year-Old With Telangiectasia, Cough, and Epistaxis

Noah Gudel, DO; Alyn Hatter, DO, MS; Stanley L. Fox, MD; Marilyn W. Edmunds, PhD, CRNP


August 20, 2021

The first gene found to be responsible for Osler-Weber-Rendu syndrome was mapped to chromosome 9q33 and identified as ENG (endoglin).[4] Endoglin serves as a transforming growth factor beta binding protein. Various mutations have been reported at this site, which represents the most common form of Osler-Weber-Rendu syndrome. Subsequently, other genes have been mapped to chromosomes 12q13, 5q31-32, and 7p14, leading to Osler-Weber-Rendu syndrome types 2 through 4, respectively.[5] Osler-Weber-Rendu syndrome type 2 is defined by a mutation in the ALK1 gene, which produces an activin-like tyrosine kinase. Both ENG and ALK1 gene products help mediate vascular remodeling by endothelial cells[1,5]; therefore, the lesions in Osler-Weber-Rendu syndrome are thought to develop from faulty repair mechanisms in damaged vasculature.[6]

Traditionally, the diagnosis was made on the basis of the classic triad of epistaxis, telangiectasia, and family history. In 1999, the Scientific Advisory Board of Osler-Weber-Rendu-HHT Foundation International published stringent criteria to help guide the diagnosis of Osler-Weber-Rendu syndrome.[1] The criteria include the following[2]:

  • Epistaxis: Spontaneous, recurrent nose bleeds

  • Telangiectases: Multiple and at characteristic sites (lips, oral cavity, fingers, nose)

  • Visceral lesions: Such as GI telangiectasia (with or without bleeding), pulmonary AVM, hepatic AVM, cerebral AVM, spinal AVM

  • Family history: A first-degree relative with Osler-Weber-Rendu syndrome according to these criteria

A diagnosis of Osler-Weber-Rendu syndrome is considered definite if three criteria are present, possible or suspected if two criteria are present, and unlikely if fewer than two criteria are met.[1] A clinical diagnosis in children may be difficult because epistaxis may present years before cutaneous telangiectasia.

Skin biopsy findings can be used to help confirm the diagnosis. A punch biopsy is usually adequate. The findings are localized in the dermal upper-horizontal plexus; dilated capillaries and new vessel formation are the classic features associated with this diagnosis. In the dermis, the walls of dilated vessels may be thickened.[2]

The presenting symptom is recurrent epistaxis, which is seen in 95% of patients.[2] Telangiectases often appear after puberty and in characteristic locations.[2] The lips and oral mucosa are nearly always involved. Telangiectases may be scattered about the face, nose, ears, trunk, and arms. The fingers and hands are also frequently involved. Although not pathognomonic, dilated capillaries in the nail bed and nail folds are characteristic of Osler-Weber-Rendu syndrome.[2,7] Telangiectases can be seen throughout the GI mucosa with endoscopy.[2]

Patients with severe pulmonary AVMs can develop right-to-left shunting with hypoxemia, cyanosis, and clubbing of the digits.[2] In the obstetric patient, pulmonary AVMs can hemorrhage, leading to life-threatening complications for both the mother and fetus.[2] When AVMs develop in the CNS or spinal canal, patients can be affected by stroke, seizure, or focal neurologic signs.[2] Extensive hepatic involvement is seen in 8%-31% of patients with Osler-Weber-Rendu syndrome.[2] Fistulae in the liver can cause portal hypertension, cirrhosis, and hepatomegaly with high-output heart failure.[2,3]

When multiple cutaneous telangiectases are present, the differential diagnosis could include essential telangiectasia, ataxia-telangiectasia, CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome, and rosacea.[2,8] When Osler-Weber-Rendu syndrome is diagnosed, patients should be monitored for melena and iron-deficiency anemia.[2] Liver studies including transaminases and bilirubin levels should be performed regularly in patients with known or suspected hepatic involvement. MRI and CT scanning may be needed to evaluate the extent of AVMs in the viscera and meninges.[2] Angiography is often used when surgical interventions are considered.[2]


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