hereditary haemorrhagic telangiectasia
This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category Hereditary hemorrhagic telangiectasia Case 001. Axiale Computertomographie des Oberbauchs in arterieller Kontrastmittelphase bei Morbus Osler (Hereditary hemorrhagic telangiectasia).
This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category Hereditary hemorrhagic telangiectasia Case 001. Axiale Computertomographie des Oberbauchs in arterieller Kontrastmittelphase bei Morbus Osler (Hereditary hemorrhagic telangiectasia).
Hereditary
hemorrhagic telangiectasia • Pulmonary arteriovenous malformation - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Osler-Weber-Rendu syndrome - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Pulmonary arteriovenous malformations with background hereditary hemorrhagic telengectasia - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Hereditary hemorrhagic telangiectasia - hepatobiliary manifestations - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Hereditary hemorrhagic telangiectasia - hepatobiliary manifestations - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Multiple pulmonary arteriovenous malformations with background hereditary hemorrhagic telangiectasia - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Multiple pulmonary arteriovenous malformations with background hereditary hemorrhagic telangiectasia - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Hereditary hemorrhagic telangiectasia - pulmonary arteriovenous malformation - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Hereditary hemorrhagic telangiectasia - pulmonary arteriovenous malformation - Ganzer Fall bei Radiopaedia
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. 32-year-old male who present with a headache. Axial and Coronal T2 weighted images show a cortical nidal AVM within the posterior right frontal lobe measuring 2.5 cm (white arrow)
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A and B 12-year-old boy with heterozygous ENG mutation hereditary hemorrhagic telangiectasia and a cerebral capillary vascular malformation. A Late arterial phase lateral projection digital subtraction angiogram of the left internal carotid artery demonstrates a sub centimeter focus of ectasia and blush without arteriovenous shunting in the medial aspect of the left frontal lobe (arrow). B Axial FLAIR sequence showing corresponding focus (arrow)
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A and B Axial CT images with contrast of a 77-year-old female with HHT and portal hypertension showing cirrhotic features due to pseudocirrhosis. Findings consistent with HHT and portal hypertension including ascites, hypertrophy of the caudate lobe, portal venous enlargement, and varices
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. Axial CT with contrast of a 45-year-old woman with HHT demonstrates innumerable enhancing arteriovenous malformations throughout the liver parenchyma. Partially visualized is hypertrophy of the celiac artery
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A Coronal CT with contrast shown in a maximum intensity projection demonstrates a simple pulmonary AVM in the left lower lobe (arrow). B Digital subtraction angiography demonstrating a complex pulmonary AVM in the right middle lobe with multiple feeding subsegmental pulmonary arteries. C Digital subtraction angiography post coil embolization of the complex right middle lobe pulmonary AVM demonstrating no flow through the PAVM. D Follow-up chest x-ray in the same patient demonstrating the coil pack in the embolized right middle lobe PAVM
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A and B AP and lateral right internal maxillary angiogram after embolization of the distal branches of the internal maxillary artery with 300–500 μm embospheres and gelfoam pledgets shows truncation of the distal internal maxillary artery (small black arrow) with no vascular blush
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A and B 45-year-old male who presented with uncontrollable epistaxis. AP and lateral right internal maxillary angiogram show a prominent blush over the right nasal cavity (small black arrow) with areas of prominent pooling of contrast (thick black arrow)
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A and B 3 yo male with left perimedullary fistula. Left T10 intercostal angiogram in the AP and lateral projections shows an enlarged radiculomedullary artery (small arrow) filling a venous varix (thick black arrow) corresponding to the CTA and MRI images. C and D Selective microcatheter injection in the AP and lateral projections (black arrow) in the venous varix shows filling of the varix and surrounding perimedullary venous plexus
Imaging to
intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia. A and B 3 yo male with left perimedullary fistula. Lateral and axial T2 weighted images of the spinal show similar findings. There is abnormal high T2 signal within the spinal cord (white arrow) surrounding the venous varix
Hereditary
hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler–Weber–Rendu syndrome): a case report. Magnetic resonance imaging showing multiple nodules in the liver
Morbus Osler:
Computertomographie mit axialem Schnitt durch die Leber: Inhomogene Perfusion, teils fleckförmig hyperperfundiertes Parenchym.
This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category Hereditary hemorrhagic telangiectasia Case 001. Coronare Computertomographie des Oberbauchs in arterieller Kontrastmittelphase bei Morbus Osler (Hereditary hemorrhagic telangiectasia).
This image
is part of a series which can be scrolled interactively with the mousewheel or mouse dragging. This is done by using Template:Imagestack. The series is found in the category Hereditary hemorrhagic telangiectasia Case 001. Coronare Computertomographie des Oberbauchs in arterieller Kontrastmittelphase bei Morbus Osler (Hereditary hemorrhagic telangiectasia).
Hereditary
hemorrhagic telangiectasia • Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) - Ganzer Fall bei Radiopaedia
Hereditary
hemorrhagic telangiectasia • Hereditary hemorrhagic telangiectasia - hepatobiliary manifestations - Ganzer Fall bei Radiopaedia
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterized by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system.
Epidemiology
Worldwide prevalence ~1.5 per 100,000. Wide geographic variability with a much higher incidence in certain regions, e.g. 1 in 200 in Dutch Antilles, 1 in 3500 in France.
Clinical presentation
Although the disease has a broad clinical spectrum, the classic clinical triad at presentation is epistaxis, multiple telangiectasias, and positive family history.
The diagnosis is a clinical diagnosis (Curacao criteria) based on the presence of 3 out of 4 of the following :
- recurrent spontaneous epistaxis
- multiple mucocutaneous telangiectasias
- characteristic sites include: oral cavity, lips, fingers and nose
- visceral AVMs
- first degree relative with HHT
Pathology
It is an autosomal dominant multi-organ vascular dysplasia, characterized by multiple arteriovenous malformations (AVMs) that lack an intervening capillary network. Telangiectasias (small superficial AVMs) are particularly common. Mutations have been found in one of several genes (three known so far). De novo mutations are rare, almost all have a first-degree relative affected.
Hereditary hemorrhagic telangiectasia can involve multiple organ systems. The spectrum includes:
- nasal: 90%
- telangiectasias of nasal mucosa
- complications: recurrent epistaxis
- skin and mucosal membranes: 90%
- telangiectasias of skin, oral cavity, conjunctivae
- complications: recurrent bleeding
- liver: 71-79%
- symptomatic liver involvement in HHT is uncommon but does occur; it has been attributed to three distinct clinical subtypes and is believed to be a consequence of the predominant hepatic shunt pattern
- high-output cardiac failure
- shunting that increases cardiac preload
- typically arteriovenous or portovenous shunts
- portal hypertension
- increased flow into the portal system (arterioportal shunt)
- hepatic anatomic abnormalities leading to increased intrahepatic resistance
- biliary disease
- shunting of the blood away from the peribiliary plexus (arteriovenous or arterioportal shunting)
- extensive arteriovenous shunting lead to biliary necrosis and bile leak
- complications: hepatomegaly, right upper quadrant pain, high-output cardiac failure, portal hypertension, mesenteric angina from steal phenomenon
- gastrointestinal tract: 20-40%
- AVMs or angiodysplasia in the stomach, small bowel or large bowel
- complications: recurrent GI bleeding
- pulmonary: 20%
- pulmonary arterio-venous malformations (AVMs)
- 36% of patients with solitary pulmonary AVM have HHT
- 57% of patients with multiple pulmonary AVMs have HHT
- complications
- pulmonary hemorrhage, hemoptysis (less common)
- complications of shunting (more common): paradoxical emboli (due to right to left shunt, e.g. stroke), septic emboli (e.g. cerebral abscess), hypoxemia, high-output cardiac failure
- pulmonary arterio-venous malformations (AVMs)
- CNS: 5-10%
- cerebral AVMs, spinal AVMs or cerebral aneurysms
- complications: headache, seizures, paraparesis, hemorrhage
- one-third of cerebral complications in HHT are due to cerebral AVMs or aneurysms, and two-thirds are due to paradoxical emboli from pulmonary AVMs
- increased incidence of capillary telangiectasia and developmental venous anomalies
Radiographic features
Imaging of visceral arteriovenous malformations
- lung
- chest x-ray: well-circumscribed mass (may be lobulated) with enlarged draining vein
- CT: well-circumscribed vascular mass with enhancing feeding artery and draining vein
- contrast echocardiography
- presence of contrast bubbles in the left atrium confirms the presence of a shunt
- characteristically, this occurs late (after several cardiac cycles), indicating a pulmonary shunt rather than intracardiac shunt
- CNS
- MR: cerebral and cerebellar AVMs typically in superficial locations
- gastrointestinal tract
- CT/CTA
- conventional angiography
- endoscopy
- capsule endoscopy
- nuclear medicine GI bleed study for active bleeding
- liver
- CT/CTA
- MRI
- conventional angiography
- ultrasound
Treatment and prognosis
Treatment of visceral lesions
- lung
- embolization; recanalization occurs in up to 20% post embolization
- surgical resection
- CNS
- embolization
- surgical resection
- stereotactic radiosurgery
- gastrointestinal tract
- embolization
- surgical resection
- endoscopic ablation/electrocautery
- liver
- embolization
- surgical resection
- liver transplantation
Prognosis
- most patients have a normal life expectancy
- 10% die of complications: usually stroke, cerebral abscess or massive hemorrhage
Siehe auch:
- zerebrale arteriovenöse Malformation
- portale Hypertension
- arteriovenöse Malformationen der Lunge
- spinale arteriovenöse Malformationen
- Morbus Osler ZNS-Manifestationen
- hereditäre hämorrhagische Teleangiektasie Leber
und weiter:
- kapilläre Teleangiektasien des ZNS
- Epistaxis
- stroke in children and young adults
- bronchial arterial aneurysm
- Blue-rubber-bleb-naevus-Syndrom
- pathological conditions of hepatic vascularization
- Angiektasien
- pulmonary arteriovenous fistula in hereditary hemorrhagic telangiectasia
- brain abscess associated to Rendu-Osler-Weber disease
- pulmonary arteriovenous malformation in Rendu-Osler-Weber disease
- hereditary haemorrhagic telangiectasia: hepatic involvement
- variköse Erweiterung der Pulmonalvenen
- Teleangiektasie
- Angiodysplasien des Gastrointestinaltraktes
- arteriovenöse Fistel der Milz
- vaskuläre Syndrome
Assoziationen und Differentialdiagnosen zu Morbus Osler-Weber-Rendu:
