ABSTRACT
OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of vascular malformations with an absence of capillaries between arteries and veins. One major manifestation site is the nasal mucous membrane where recurrent nosebleeds occur. Our clinical strategy to treat patients with HHT has the aim to reduce nasal bleeding long-term with minimal local and general side effects. METHODS: We describe staged diagnosis and therapy including individual medical treatments of 97 patients with HHT. The success of treatment is monitored with a systematic questionnaire. RESULTS: The neodymium-doped yttrium aluminium garnet (Nd:YAG) laser therapy remains standard treatment of choice with no major side effects despite the need for repeated treatment. In addition new treatment strategies like nasal occlusion, local drug therapy, and nasal septal splinting show initial success. CONCLUSION: Improvement of the quality of life of HHT patients can be achieved by a multimodal concept. Several new treatment strategies like nasal septal splinting and nasal occlusion successfully expand the range of established methods. Further studies have to prove the safety and long-term effectiveness of the described individual medical treatments.
Subject(s)
Humans , Arteries , Arteriovenous Malformations , Bevacizumab , Capillaries , Diagnosis , Drug Therapy , Epistaxis , Laser Therapy , Mucous Membrane , Quality of Life , Splints , Telangiectasia, Hereditary Hemorrhagic , Vascular Malformations , Veins , YttriumABSTRACT
Osler-Rendu-Weber Syndrome or hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia of the skin and of the mucous membranes and intermittent bleeding from vascular abnormalities; in about 20% of the patients pulmonary arteriovenous malformation is present. Pulmonary arteriovenous malformation is a congenital anomaly in the lung which causes shunting of venous blood in the pulmonary artery to systemic circulation, resulting in cyanosis, polycythemia and clubbing. Recently we experienced a case of multiple pulmonary arteriovenous malformation associated with the telangiectatic change of the cerebral artery in a 16-year-old male patient, which was confirmed by pulmonary angiography.
Subject(s)
Adolescent , Humans , Male , Angiography , Arteriovenous Malformations , Cerebral Arteries , Cyanosis , Hemorrhage , Lung , Mucous Membrane , Polycythemia , Pulmonary Artery , Skin , Telangiectasia, Hereditary Hemorrhagic , TelangiectasisABSTRACT
Hereditary hemorrhagic telangiectasia(Osler-Rendu-Weber Syndrome) is characterized by telangiectasia of the skin and mucous membranes and intermittent bleeding from vascular abnormalities. About 20% of patients with this is syndrome have pulmonary arteriovenous fistulas. Pulmonary arteriovenous fistula is uncommon malformation which has an abnormal connection between the pulmonary capillary bed, in which venous blind in the pulmonary artery is shunted through the fistula into the pulmonary vein without exposure to alveolar oxygen and result in unoxygenated, desaturated systemic arterial blood, polycythemia, cyanosis and clubbing. Death often results from cerebral abscess and rupture of the malformation with massive hemorrhage. Therapeutic intervention is recommended for all symptomatic patients because of the risk of those serious complications. Treatment options include surgery and transcatheter obliteration with steel coils or detachable balloons. Therapeutic embolization has the advantages that multiple bilateral pulmonary arteriovenous fistulas can be occluded and also that the procedure can be repeated if necessary. Recently we experienced a case of the multiple bilateral pulmonary arteriovenous fistulas associated with telangiectatic change of hepatic artery and multiple angiodysplasia on the gastric mucosa in 41 years old female patient who had mild dyspnea of exertion(NYHA class II), clubbing finger, severe iron deficiency anemia. She was treated with embolization technique using steel coils and iron replacement. After the therapeutic embolization, significant improvement of dyspnea of exertion with disappearance of multiple pulmonary nodule on follow-up simple chest x-ray was noted. During the subsequent six months follow-up period, she bad the improvement of symptoms arid iron deficiency anemia.
Subject(s)
Adult , Female , Humans , Anemia, Iron-Deficiency , Angiodysplasia , Arteriovenous Fistula , Brain Abscess , Capillaries , Cyanosis , Dyspnea , Embolization, Therapeutic , Fingers , Fistula , Follow-Up Studies , Gastric Mucosa , Hemorrhage , Hepatic Artery , Iron , Mucous Membrane , Multiple Pulmonary Nodules , Oxygen , Polycythemia , Pulmonary Artery , Pulmonary Veins , Rupture , Skin , Steel , Telangiectasia, Hereditary Hemorrhagic , Telangiectasis , ThoraxABSTRACT
The Osler-Rendu-Weber syndrome is characterized by multiple telangiectasic lesions usually involving the mucous membranes, face and distal extremities. It is a congenital malformation inherited as an autosomal dominant trait and the lesions usually appear during adulthood. The major symptoms are recurrent epistaxis and gastrointestinal bleeding, but they may cause intracranial hemorrhage at the white matter of the brain stem, cerebellum and diencephalon. We report a case of typical autosomal dominant trait Osler-Rendu-Weber syndrome associated with intracranial hemorrhage at the right basal ganglia.