Felix S et al., Neurology 2008; 71: 2012-2013.
Hereditary hemorrhagic telangiectasia (HHT) is a rare aut dom disease caused by one of 2 mutations, designated HHT1 and HHT2. The mutations are in the ENG and ALK1 genes. Diagnosis required 3 of the following 4: spontaneous epistaxis, cutaneous telangiectasias. av malformations of the interior organs and positive family history. Complications are anemia, portal hypertension, hypoxemia, brain abscess and stroke.
Authors of a case report demonstrate occurrence of a stroke after embolization of the pulmonary artery venous malformation. Authors note the need to check platelet function prior to using antiplatelet drugs in patients with HHT for prevention before endovascular procedures.
MRI may show lots of tiny hemorrhages.
Recommendation is to screen relatives
notes
avm rupture can cause paradoxical pulmonary fistula
conjunctival
lung liver gi and brain
stroke is due to paradoxical emboli across the PAVM
rarely due to anemia, hypoxia or air emboli
PAVM are most concerning if larger than 2 cm
signs and symptoms
epistaxis long precedes telangiectasias
Dyspnea is second most common symptoms
Hemoptysis is third most
others clubbing cyanosis,GI bleeds in the over 58, less often chest pain and syncope
can auscultate a murmur over the PAVM in about half
Neurologic symptoms are present in about half including confusion, syncope, paresis, headache and vertigo especially
Migraines 43 percent
TIA 37 percent
stroke 18 percent
brain abscess in 9 percent
seizure 8 percent
more with advancing age
Hereditary hemorrhagic telangiectasia (HHT) is a rare aut dom disease caused by one of 2 mutations, designated HHT1 and HHT2. The mutations are in the ENG and ALK1 genes. Diagnosis required 3 of the following 4: spontaneous epistaxis, cutaneous telangiectasias. av malformations of the interior organs and positive family history. Complications are anemia, portal hypertension, hypoxemia, brain abscess and stroke.
Authors of a case report demonstrate occurrence of a stroke after embolization of the pulmonary artery venous malformation. Authors note the need to check platelet function prior to using antiplatelet drugs in patients with HHT for prevention before endovascular procedures.
MRI may show lots of tiny hemorrhages.
Recommendation is to screen relatives
notes
avm rupture can cause paradoxical pulmonary fistula
conjunctival
lung liver gi and brain
stroke is due to paradoxical emboli across the PAVM
rarely due to anemia, hypoxia or air emboli
PAVM are most concerning if larger than 2 cm
signs and symptoms
epistaxis long precedes telangiectasias
Dyspnea is second most common symptoms
Hemoptysis is third most
others clubbing cyanosis,GI bleeds in the over 58, less often chest pain and syncope
can auscultate a murmur over the PAVM in about half
Neurologic symptoms are present in about half including confusion, syncope, paresis, headache and vertigo especially
Migraines 43 percent
TIA 37 percent
stroke 18 percent
brain abscess in 9 percent
seizure 8 percent
more with advancing age
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