Pediatric Osler-Weber-Rendu Syndrome Clinical Presentation
- Author: Arun Panigrahi, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
History
Symptoms vary depending on the area of involvement. The main areas of involvement are nasal mucosa, skin, the GI tract, pulmonary vasculature, and the brain. Because Osler-Weber-Rendu syndrome is an autosomal dominant disease, patients typically have a family history of telangiectasia and recurrent bleeding.
Diagnosis is based on the following 4 criteria:
- Nosebleeds - Spontaneous and recurrent
- Telangiectasias - Multiple sites including the lips, oral cavity, fingers, and nose
- Presence of internal lesions - GI telangiectasia, pulmonary arteriovenous malformations (AVMs), hepatic AVMs, cerebral AVMs, spinal AVMs
- Family history - A first-degree relative with Osler-Weber Rendu syndrome according to these criteria
The diagnosis is considered definite if 3 or more criteria are present and is considered possible if 2 criteria are present. The diagnosis is unlikely if fewer than 2 criteria are present.
Epistaxis
Epistaxis is the most common manifestation of the disease and occurs in as many as 90% of affected patients. Bleeding may occur as often as every day or as infrequently as once a month. Currently, no standardized method exists to measure epistaxis severity; however, more than 900 respondents from 21 countries are participating in a study intended to create an epistaxis severity score for use in patients with Osler-Weber-Rendu syndrome.[6]
Patients with epistaxis usually present before the second decade of life. Blood transfusions are required in 10-30% of patients, and as many as 50% of patients require surgical treatment.
GastrointestinaI tract and liver
Recurrent painless GI bleeding occurs in 10-40% of patients and generally occurs later in life than epistaxis. Patients may report abdominal pain that may be due to thrombosis of GI AVMs.
Liver involvement (often asymptomatic) is reported in as many as 40% of patients. Symptoms may include right upper quadrant pain, jaundice, symptoms of high-output cardiac failure, and bleeding from esophageal varices. The complication of cardiac failure is caused by a large left-to-right shunt that can occur between the hepatic arteries and veins. Occasionally, patients with Osler-Weber-Rendu syndrome may present with atypical cirrhosis.
Pulmonary vasculature
Pulmonary AVMs are present in 15-33% of patients with the disease. Dyspnea and exercise intolerance are often presenting symptoms; however, most patients with pulmonary AVM have no significant respiratory symptoms.[7] Pulmonary AVMs may cause enough right-to-left shunting to cause cyanosis, hypoxemia, and secondary polycythemia. Pulmonary AVMs also increase the incidence of infection due to septic emboli formation in the pulmonary vasculature.
Hemoptysis results from either telangiectasia of the trachea and bronchi or pulmonary arteriovenous (AV) fistulas. Patients usually present around the third or fourth decades of life.
Neurologic involvement
Migraine headaches occur in 13-50% of patients with Osler-Weber-Rendu syndrome. Although the reason is unclear, the headaches are more prevalent in patients with pulmonary AVMs.
Other neurologic involvement occurs in 8-12% of patients with Osler-Weber-Rendu syndrome. A history of headache, seizures, and focal neurologic symptoms (eg, paraplegia, paralysis) may be presenting symptoms.
Stroke and brain abscess are more common in patients with Osler-Weber-Rendu syndrome compared with the healthy population. This is due to loss of the normal filtering function of the pulmonary vasculature in patients with pulmonary AVMs. These AVMs allow thrombotic and septic emboli to travel to the brain. Untreated patients have a 2% risk of stroke and a 1% risk of brain abscess per year.
Other symptoms
Fatigue may be elicited on history and may be due to an iron deficiency anemia caused by recurrent blood loss.
Visual disturbances may be noted, possibly caused by intraocular hemorrhage. Patients may notice bloody tears, which are due to conjunctival telangiectases.
Physical Examination
The areas involved dictate the signs that may be found on physical examination. Common sites of involvement include the following:
- Skin
- Central nervous system
- Respiratory system
- Cardiovascular system
- Gastrointestinal tract
- Eyes
The most obvious finding on physical examination is telangiectasias. These lesions may be found on the oral mucosa, nasal mucosa, skin, and conjunctiva. Examination of the oral mucosa reveals telangiectasias in 58-79% of patients. Rectal examination may reveal frank blood. A recent study also described the detection of vascular abnormalities deep in the digits in patients with hereditary hemorrhagic telangiectasia (HHT) using a handheld illuminator.[8]
Funduscopic examination may reveal retinal telangiectasias and hemorrhages. Bloody tears may be present because of conjunctival telangiectasias.
If a previous stroke, brain abscess, or intracerebral hematoma has occurred, patients may present with focal neurologic signs.
Patients with pulmonary AVMs may be tachypneic, cyanotic, and have clubbing. These signs develop due to right-to-left shunting. A pulmonary bruit may be heard best on inspiration.
Patients with anemia may be pale. Patients may have a hyperdynamic circulation if they have hepatic involvement and a large left-to-right shunt. Hyperdynamic circulation may be exacerbated by anemia.
Signs of liver involvement include jaundice, hepatomegaly, and a right upper quadrant bruit or thrill.
Complications
Complications include the following:
- Hemorrhagic or ischemic stroke
- Brain abscess
- High-output congestive heart failure
- Chronic GI bleeding and anemia
- Portal hypertension with esophageal varices
- Pulmonary hemorrhage
- Liver cirrhosis
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