INTRAHEPATIC DILATED BILE DUCTS IN OSLER-WEBER-RENDU SYNDROME

Aims:

Osler-Weber-Rendu syndrome, is a rare autosomal dominant disorder (incidence in the general population is 1 – 2/100,000 while the race and gender distribution are homogeneous). It is characterized by abnormal blood vessel formation in the skin, the mucous membranes and often within other organs such as the lungs, liver and brain. Epistaxis is the earliest and most frequent manifestation, followed by telangiectasias in the oral mucosa, tongue, lips, fingers and skin.

Methods:

A 40 years old woman was referred to our department for abdominal pain on the right upper quadrant. Laboratory tests showed anemia. She was evaluated with abdominal ultrasound, computed tomography, upper abdominal MRI-MRCP, with findings suggesting multiple intrahepatic arteriovenous malformations, seen in Osler-Weber-Rendu syndrome with hepatic involvement. ENT evaluation showed telangiectasias in the nasal mucosa. A telangectasia on the lower lip was spotted from the physical examination. Her past medical history included recurrent epistaxis, which started seven years ago, mitral valve prolapse, Hashimoto's thyroiditis. Patient reported that both her mother and sister were diagnosed with the same syndrome.

Results:

Diagnosis was made based on the four Curacao criteria:

1. recurrent epistaxis,

2. visceral arteriovenous malformations,

3. mucocutaneous telangiectasias

4. a positive family history.

Conclusions:

The mutations that have been identified with molecular testing are ENG, ALK1 and SMAD4 and are responsible for 87% occurrence within families. Molecular testing of individuals with a known mutation in the family, reduces the cost of repeated screening in relatives being in risk of developing the syndrome.