RESUMEN
A 43-year-old female patient with a brain abscess and a complicated clinical course was diagnosed with hereditary haemorrhagic telangiectasia (HHT) at the Martin Zeitz Centre for Rare Diseases in Hamburg, Germany. The brain abscess was caused by pulmonary arteriovenous malformations (AVM), a typical finding in HHT. Patients with cryptogenic brain abscess should be screened for pulmonary AVM and HHT. This case report illustrates the importance of patient history and interdisciplinary exchange in patients with a broad clinical spectrum as well as interdisciplinary treatment in the case of complications of rare diseases.
Asunto(s)
Malformaciones Arteriovenosas , Absceso Encefálico , Telangiectasia Hemorrágica Hereditaria , Femenino , Humanos , Adulto , Telangiectasia Hemorrágica Hereditaria/complicaciones , Enfermedades Raras/complicaciones , Malformaciones Arteriovenosas/complicaciones , Pulmón , Absceso Encefálico/diagnóstico por imagenRESUMEN
INTRODUCTION: Osler-Rendu-Weber syndrome or hereditary hemorrhagic telangiectasia affects between 1/5000 and 1/8000 people. It is characterized by presence of recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. It is a genetic disease with autosomal dominant transmission inducing an endothelial cells hyper-proliferation. CASE REPORT: A 68-year-old women with Osler-Rendu-Weber syndrome was referred for management of general impairment with confusional syndrome and hyperthermia. Various examinations have allowed us to conclude at diagnosis of brain abscess with ventriculitis probably favored by right-left shunt secondary to pulmonary arteriovenous malformations. Evolution was favorable after antibiotic treatment and endovascular embolization. CONCLUSION: In case of brain abscess without obvious promoting factor, don't forget to looking for a right-left shunt providing septic or aseptic emboli. Furthermore, diagnosis of Rendu-Osler-Weber syndrome should be considered presence of telangiectasias and/or epistaxis.
Asunto(s)
Fístula Arteriovenosa/diagnóstico , Malformaciones Arteriovenosas/diagnóstico , Absceso Encefálico/diagnóstico , Arteria Pulmonar/anomalías , Venas Pulmonares/anomalías , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Anciano , Antibacterianos/uso terapéutico , Fístula Arteriovenosa/etiología , Fístula Arteriovenosa/terapia , Malformaciones Arteriovenosas/etiología , Malformaciones Arteriovenosas/terapia , Absceso Encefálico/etiología , Absceso Encefálico/terapia , Embolización Terapéutica , Femenino , Humanos , Telangiectasia Hemorrágica Hereditaria/complicaciones , Telangiectasia Hemorrágica Hereditaria/terapiaRESUMEN
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.
RESUMEN
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multi-systemic disease that exhibits increasing penetrance with age. Some patients present with severe life-threatening epistaxis which is intractable to all common treatment modalities. A 63-year-old female patient with hereditary hemorrhagic telangiectasia (HHT) presented with recurrent life-threatening epistaxis that required repeated transfusions despite multiple embolizations and septodermoplasty. Previous septodermoplasty failed due to septal perforation. Resurfacing of the nasal lining with a free flap was planned. Total removal of the nasal mucosa and remaining septum was conducted to make the nasal cavity into one common cavity. Nasal passages were resurfaced with a radial forearm free flap. Following surgery, the patient experienced no further significant epistaxis. Fasciocutaneous free-flap resurfacing might represent a curative solution for cases of HHT intractable to conservative treatment and septodermoplasty, especially for patients with large septal perforation.
Asunto(s)
Epistaxis/cirugía , Colgajos Tisulares Libres , Cavidad Nasal/cirugía , Mucosa Nasal/cirugía , Tabique Nasal/cirugía , Telangiectasia Hemorrágica Hereditaria/cirugía , Epistaxis/etiología , Femenino , Humanos , Persona de Mediana Edad , Perforación del Tabique Nasal/cirugía , Telangiectasia Hemorrágica Hereditaria/complicacionesRESUMEN
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.
Asunto(s)
Humanos , Arterias , Malformaciones Arteriovenosas , Bevacizumab , Capilares , Diagnóstico , Quimioterapia , Epistaxis , Terapia por Láser , Membrana Mucosa , Calidad de Vida , Férulas (Fijadores) , Telangiectasia Hemorrágica Hereditaria , Malformaciones Vasculares , Venas , ItrioRESUMEN
INTRODUCTION: Epistaxis is the most frequent manifestation in hereditary hemorrhagic telangiectasia, in which no optimal treatment exists. It can lead to severe anemia and reduced quality of life. Positive effects of tranexamic acid, an antifibrinolytic drug, have been reported on epistaxis related to this disorder. We sought to evaluate the efficacy of treating nosebleeds in hereditary hemorrhagic telangiectasia with tranexamic acid. MATERIALS AND METHODS: In a randomized, double-blind, placebo controlled, cross-over phase IIIB study, 1 gram of tranexamic acid or placebo was given orally 3 times daily for 3 months for a total of 6 months. RESULTS: 22 patients were included in the intention-to-treat analysis. Hemoglobin levels, the primary outcome measure, did not change significantly (p=0.33). The secondary outcome measure was epistaxis score and patients reported a statistically significant reduction in nosebleeds, equaling a clinically relevant 54% diminution (p=0.0031), as compared to the placebo period. No severe side effects were observed. CONCLUSION: Tranexamic acid reduces epistaxis in patients with hereditary hemorrhagic telangiectasia. (Clinical trial registration numbers: BfArM 141 CHC 9008-001 and ClinicalTrials.gov NCT01031992).
Asunto(s)
Antifibrinolíticos/uso terapéutico , Epistaxis/prevención & control , Telangiectasia Hemorrágica Hereditaria/tratamiento farmacológico , Ácido Tranexámico/uso terapéutico , Administración Oral , Adulto , Anciano , Antifibrinolíticos/administración & dosificación , Estudios Cruzados , Método Doble Ciego , Esquema de Medicación , Epistaxis/diagnóstico , Epistaxis/etiología , Femenino , Alemania , Humanos , Masculino , Persona de Mediana Edad , Telangiectasia Hemorrágica Hereditaria/complicaciones , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Factores de Tiempo , Ácido Tranexámico/administración & dosificación , Resultado del TratamientoRESUMEN
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.
Asunto(s)
Adolescente , Humanos , Masculino , Angiografía , Malformaciones Arteriovenosas , Arterias Cerebrales , Cianosis , Hemorragia , Pulmón , Membrana Mucosa , Policitemia , Arteria Pulmonar , Piel , Telangiectasia Hemorrágica Hereditaria , TelangiectasiaRESUMEN
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.
Asunto(s)
Ganglios Basales , Tronco Encefálico , Cerebelo , Diencéfalo , Epistaxis , Extremidades , Hemorragia , Hemorragias Intracraneales , Membrana Mucosa , Accidente Cerebrovascular , Telangiectasia Hemorrágica HereditariaRESUMEN
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.