A case of Hereditary hemorrhagic telangiectasia/ Osler-Weber-Rendu syndrome diagnosed by CT Pulmonary Angiography

ABSTRACT

Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome is a rare inherited disorder which shows autosomal dominant inheritance pattern with variable sensitivity primarily affecting the blood vessels and is characterized by abnormal formation of blood vessels in skin, mucous membranes, and organs like lungs, liver and central nervous system. It is seen to involve the long arm of chromosome 9. It affects both sexes equally and is characterized by multiple telangiectasias and Arteriovenous malformation that causes direct connections between arteries and veins which bypasses intermediate capillaries. The most marked sites where telangiectasia occurs are lips, tongue, face, nasal mucosa, oral cavity and gastrointestinal tract. The main complications of telangiectasias are easily rupture and bleeding which occurs due to the thin walls, narrow tortuous course, and in close proximity to skin surface and mucus membrane. The symptoms are obvious and are classified according to the involvement of organ which includes repeated epistaxis, gastrointestinal hemorrhage, hemoptysis, skin lesions, and sometimes leads to dreadful condition like stroke. Complications do occur in Hereditary hemorrhagic telangiectasia and those includes bleeding from various sites, reduced hemoglobin, followed by stroke, pulmonary AVM, Transient Ischemic Attack (TIA), hypovolemic shock which occurs due to severe uncontrolled bleeding, which eventually leads to cardiac failure. Present case is of 40 year old male who presented with complaints of shortness of breath, epistaxis, non-productive, yellow mucoid cough sometime associated with hemoptysis, GERD, skin thickening with finger-tip ulcers and nail changes.

Keywords: Osler-Weber-Rendu syndrome, Finger-tip ulcers