Minimal portosystemic encephalopathy: A new nosological entity in patients with hereditary haemorrhagic telangiectasia

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

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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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Frequency of myelin oligodendrocyte glycoprotein antibodies in a large cohort of neurological patients

Multiple Sclerosis Journal - Experimental Translational and Clinical ◽

10.1177/20552173211022767 ◽

2021 ◽

Vol 7 (2) ◽

pp. 205521732110227

Author(s):

Friederike Held ◽

Sudhakar Reddy Kalluri ◽

Achim Berthele ◽

Ana-Katharina Klein ◽

Markus Reindl ◽

...

Keyword(s):

Time Course ◽

Neurological Diseases ◽

External Validation ◽

Diagnostic Value ◽

Myelin Oligodendrocyte Glycoprotein ◽

Large Cohort ◽

Wide Range ◽

Neurological Patients ◽

A Cell ◽

Nosological Entity

Background Myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOG-AD) is recognized as a distinct nosological entity. IgG antibodies against MOG (MOG-Ab) overlap with neuromyelitis optica spectrum disorders (NMOSD) phenotype in adults. However, an increasing number of clinical phenotypes have been reported to be associated with MOG-Ab. Objective To investigate the seroprevalence of MOG-Ab under consideration of demographics, disease entities and time course in a large cohort of unselected neurological patients. Methods Blood samples of 2.107 consecutive adult neurologic patients admitted to our department between 2016-2017 were tested for MOG-Ab using a cell-based assay. MOG-Ab persistence was analyzed in follow-up samples. External validation was performed in two independent laboratories. Results We found MOG-Ab in 25 of 2.107 (1.2%) patients. High antibody ratios were mostly associated with NMOSD and MOG-AD phenotype (5/25). Low ratios occurred in a wide range of neurological diseases, predominantly in other demyelinating CNS diseases (5/25) and stroke (6/25). MOG-Ab persistence over time was not confined to NMOSD and MOG-AD phenotype. Conclusion The present study demonstrates the occurrence of MOG-Ab in a wide range of neurological diseases. Only high MOG-Ab ratios were associated with a defined clinical phenotype, but low MOG-Ab ratios were not. The diagnostic value of low MOG-Ab is thus highly limited.

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Classification of endonasal HHT lesions using digital microscopy

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01801-9 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

F. Haubner ◽

A. Schneider ◽

H. Schinke ◽

M. Bertlich ◽

B. G. Weiss ◽

...

Keyword(s):

Quality Of Life ◽

Treatment Modalities ◽

Hereditary Haemorrhagic Telangiectasia ◽

Digital Microscopy ◽

Digital Microscope ◽

Lower Severity ◽

Gender Specific Differences ◽

Vegf Level

Abstract Background Recurrent spontaneous epistaxis is the most common clinical manifestation and the most debilitating symptom in hereditary haemorrhagic telangiectasia (HHT) patients. To this date, there exist only a classification of HHT patients by different genetic mutations. There is no standard classification for the mucocutaneous endonasal manifestations of HHT. The aim of the present study was to document the variety of endonasal HHT lesions using digital microscopy and to propose a clinical classification. Methods We recorded the endonasal HHT lesions of 28 patients using a digital microscope. We reconstructed the 3D images und videos recorded by digital microscope afterwards and classified the endonasal lesions of HHT in two classes: Grade A, presence of only flat telangiectasias in the mucosa level and Grade B, (additional) presence of raised berry or wart-like telangiectasia spots. We investigated also Haemoglobin level by routine laboratory procedures, plasma VEGF level by ELISA, Severity of epistaxis by epistaxis severity score (ESS) and quality of life by a linear visual analogue scale (VAS). Results We found a higher quality of life and a lower severity of epistaxis in Grade A patients in comparison to Grade B patients. No difference in plasma VEGF level and in Haemoglobin between Grad A patients and Grade B patients could be detected. Plasma VEGF levels showed no gender specific differences. It could also not be correlated to the extranasal manifestation. Conclusion The classification for endonasal manifestation of HHT proposed in this study indicates severity of epistaxis und quality of life. Digital microscopy with the ability of 3D reconstruction of images presents a useful tool for such classifications. The classification of endonasal HHT lesions using digital microscopy allows to evaluate the dynamic of HHT lesions in the course of time independent of examiner. This allows also to evaluate the efficacy of the different treatment modalities by dynamic of HHT lesions. Moreover digital microscopy is very beneficial in academic teaching of rare diseases.

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Cerebrospinal fluid γ-aminobutyric acid levels in dogs with chronic portosystemic encephalopathy

Clinical Science ◽

10.1042/cs0710749 ◽

1986 ◽

Vol 71 (6) ◽

pp. 749-753 ◽

Cited By ~ 9

Author(s):

J. E. Maddison ◽

D. Yau ◽

P. Stewart ◽

G. C. Farrell

Keyword(s):

Cerebrospinal Fluid ◽

Aminobutyric Acid ◽

Plasma Ammonia ◽

Portosystemic Encephalopathy ◽

Dog Model ◽

Csf Levels ◽

Neurological Features ◽

The Brain ◽

Biochemical Abnormalities

1. Cerebrospinal fluid (CSF) γ-aminobutyric acid (GABA) levels were measured in a dog model of spontaneous chronic portosystemic encephalopathy. 2. Dogs with congenital portacaval shunts (intra- or extra-hepatic) develop neurological features of abnormal psychomotor behaviour and depressed consciousness that are consistent with the symptoms of chronic portosystemic encephalopathy in humans. In the five dogs studied, plasma ammonia was elevated, as was CSF tryptophan, both usual biochemical abnormalities in portosystemic encephalopathy. 3. CSF levels of GABA in five dogs with portosystemic encephalopathy (100 ± 13 pmol/ml) were not significantly different from those in five control dogs (96 ± 14 pmol/ml). CSF levels of GABA were not altered after ammonia infusion. 4. If enhanced GABA-ergic neurotransmission, due to influx of gut-derived GABA into the brain, is responsible for the pathophysiology of chronic portosystemic encephalopathy in this model, it is not reflected by increased levels of GABA in CSF.

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Purpose‐built septal splints for control of hereditary haemorrhagic telangiectasia related epistaxis: A prospective study

Clinical Otolaryngology ◽

10.1111/coa.13755 ◽

2021 ◽

Author(s):

Pranter Brahmabhatt ◽

Paramesh Mankunda Puttasiddaiah ◽

Steven Hollisey‐Mclean ◽

Heikki Bruce Whittet

Keyword(s):

Prospective Study ◽

Hereditary Haemorrhagic Telangiectasia ◽

A Prospective Study

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Hereditary haemorrhagic telangiectasia: A case report

SAGE Open Medical Case Reports ◽

10.1177/2050313x211003076 ◽

2021 ◽

Vol 9 ◽

pp. 2050313X2110030

Author(s):

Asfandyar Mufti ◽

Muskaan Sachdeva ◽

Khalad Maliyar ◽

Marissa Joseph

Keyword(s):

Arteriovenous Malformations ◽

Genetic Disorder ◽

Clinical Manifestations ◽

Hereditary Haemorrhagic Telangiectasia ◽

Lower Lip ◽

Recurrent Epistaxis ◽

Receptor Like Kinase ◽

History Of ◽

The Right ◽

Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

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139 PORTOSYSTEMIC ENCEPHALOPATHY DUE TO PERSISTENCE OF AN OPEN DUCTUS VENOSUS ARANTII

Pediatric Research ◽

10.1203/00006450-199112000-00169 ◽

1991 ◽

Vol 30 (6) ◽

pp. 651-651 ◽

Cited By ~ 1

Author(s):

R Gitzelmann ◽

U V Arbenz ◽

U V Willi ◽

W Hetzel

Keyword(s):

Ductus Venosus ◽

Portosystemic Encephalopathy

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