Neurologic Manifestation as Initial Presentation in a Case of Hereditary Haemorrhagic Telangiectasia

Hereditary Haemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu syndrome is an uncommon autosomal dominant multi-organ condition of vascular dysplasias. We describe a 19 year old Indian female who presented with cerebral abscess secondary to paradoxical emboli from pulmonary arteriovenous malformations (PAVMs) associated with HHT. Cerebral, pulmonary, hepatic and gastrointestinal involvement can be life-threatening and it is important to have lifelong follow-ups on these patients.

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Massive haemorrhagic complications of ruptured pulmonary arteriovenous malformations: outcomes from a 12 years’ retrospective study

BMC Pulmonary Medicine ◽

10.1186/s12890-021-01604-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Xu Ma ◽

Bing Jie ◽

Dong Yu ◽

Ling-Ling Li ◽

Sen Jiang

Keyword(s):

Arteriovenous Malformations ◽

Arterial Oxygen Saturation ◽

Arterial Oxygen ◽

Hereditary Haemorrhagic Telangiectasia ◽

Pulmonary Arteriovenous Malformations ◽

Imaging Data ◽

Peripheral Lung ◽

Life Threatening ◽

The Mean

Abstract Background The life-threatening haemorrhagic complications of pulmonary arteriovenous malformations (PAVMs) are extremely rare, and only described in isolated cases. This study was designed to comprehensively investigate management of ruptured PAVMs. Methods We retrospectively assessed clinical and imaging data of ruptured PAVMs to summarize incidence, clinical characteristics, and outcomes following embolisation between January 2008 and January 2021. Results Eighteen of 406 (4.4%) patients with PAVMs developed haemorrhagic complications. Twelve of 18 patients were clinically diagnosed with hereditary haemorrhagic telangiectasia (HHT). Haemorrhagic complications occurred with no clear trigger in all cases. Eight of 18 patients (44.4%) were initially misdiagnosed or had undergone early ineffective treatment. 28 lesions were detected, with 89.3% of them located in peripheral lung. Computed tomography angiography (CTA) showed indirect signs to indicate ruptured PAVMs in all cases. Lower haemoglobin concentrations were associated with the diameter of afferent arteries in the ruptured lesions. Successful embolotherapy was achieved in all cases. After embolotherapy, arterial oxygen saturation improved and bleeding was controlled (P < 0.05). The mean follow-up time was 3.2 ± 2.5 years (range, 7 months to 10 years). Conclusions Life threatening haemorrhagic complications of PAVMs are rare, they usually occur without a trigger and can be easily misdiagnosed. HHT and larger size of afferent arteries are major risk factors of these complications. CTA is a useful tool for diagnosis and therapeutic guidance for ruptured PAVMs. Embolotherapy is an effective therapy for this life-threatening complication.

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Expansion of pulmonary arteriovenous malformations after grand mal seizures and other circumstances of PAVM growth

BMJ Case Reports ◽

10.1136/bcr-2019-229886 ◽

2019 ◽

Vol 12 (8) ◽

pp. e229886

Author(s):

Ami Schattner ◽

Ina Dubin

Keyword(s):

Pulmonary Hypertension ◽

Arteriovenous Malformation ◽

Arteriovenous Malformations ◽

Slow Growth ◽

Hereditary Haemorrhagic Telangiectasia ◽

Pulmonary Arteriovenous Malformations ◽

Review Of The Literature ◽

Grand Mal ◽

Paradoxical Emboli ◽

Accelerated Growth

A woman with asymptomatic pulmonary arteriovenous malformation (PAVM) discovered incidentally on admission developed recurrent generalised seizures. Immediately after, the PAVM demonstrated marked expansion, and was safely resected. Congenital PAVMs (associated with hereditary haemorrhagic telangiectasia or sporadic) are considered stable lesions that exhibit very slow growth if at all. A review of the literature reveals all circumstances of accelerated growth of PAVM (puberty, pregnancy, postpartum, pulmonary hypertension) and suggests a novel mechanism of seizure-associated expansion. This is important because the size and rapid growth of PAVMs correlate with the potential for rupture and other ominous complications such as right to left shunt and paradoxical emboli. The new seizures–PAVM progression association mandates recognition since the risk of seizures in patients with PAVM is substantial. Our observations strongly suggest the need to monitor PAVM in patients with or without haemorrhagic telangiectasis by repeated imaging after generalised seizures to evaluate potential expansion and risk.

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S95 Transcriptional signatures of blood outgrowth endothelial cells from patients with pulmonary arteriovenous malformations and hereditary haemorrhagic telangiectasia

10.1136/thorax-2021-btsabstracts.101 ◽

2021 ◽

Author(s):

ME Bernabeu Herrero ◽

A Bielowka ◽

D Patel ◽

S Srikaran ◽

P Chaves Guerrero ◽

...

Keyword(s):

Endothelial Cells ◽

Arteriovenous Malformations ◽

Hereditary Haemorrhagic Telangiectasia ◽

Pulmonary Arteriovenous Malformations

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Variable Presentations in Pulmonary Arteriovenous Malformation

Asian Journal of Medical Radiological Research ◽

10.47009/ajmrr.2020.8.2.1 ◽

2020 ◽

Vol 8 (2) ◽

pp. 1-8

Author(s):

Nasir Ahmad Lone ◽

Akshit Kumar ◽

Waseem Ahmed Sheikh

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Arteriovenous Malformation ◽

Arteriovenous Malformations ◽

Clinical Symptoms ◽

Case Series ◽

Neurological Complications ◽

Pulmonary Arteriovenous Malformations ◽

Exertional Dyspnea ◽

Paradoxical Emboli

Pulmonary arteriovenous malformations (PAVM) are a group of vascular anomalies of lung which present with variable clinical symptoms. Most patients with PAVM are asymptomatic but it can cause dyspnea on exertion, paradoxical emboli to brain causing various central nervous system complications like stroke and brain abscess, hemoptysis and rupture. The age at the presentation can range from 1st to 7th decade but the majority of patients present before the age of 30 years. PAVM is strongly associated with hereditary haemorrhagic telangiectasis which presents with epistaxis, mucocutaneous telangiectasias and AV malformations of various organs. In our case series, we have patients ranging from 3 yrs to 75 years with presentation ranging from asymptomatic to exertional dyspnea, hemoptysis and neurological complications.

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