scholarly journals Hereditary haemorrhagic telangiectasia: A case report

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.

scholarly journals Spontaneous Thrombosis of an Orbital Arteriovenous Malformation Revealing Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)

2011 ◽  
Vol 17 (4) ◽  
pp. 466-471 ◽  
Author(s):  
C. Van Went ◽  
A. Ozanne ◽  
G. Saliou ◽  
G. Dethorey ◽  
I. De Monchy ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Intraocular Pressure ◽  
Arteriovenous Malformation ◽  
Genetic Disorder ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Spontaneous Thrombosis ◽  
Vein Thrombosis ◽  
Recurrent Epistaxis ◽  
The Right ◽  
Central Retinal Vein

Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic disorder responsible for cutaneous or mucosal telangiectasia and arteriovenous malformations (AVMs). The most frequent locations are lung and brain. In contrast, orbital AVMs are very rare. We describe a case of symptomatic orbital arteriovenous malformation due to spontaneous thrombosis. A 65-year-old woman was referred for chronic right eye proptosis associated with dilation of conjunctival vessels with a jellyfish pattern. Right visual acuity was 20/40 and intraocular pressure was 40 mmHg. Personal and familial history of recurrent epistaxis, associated with multiple telangiectasia within lips and palate, led to the diagnosis of HHT. Magnetic resonance imaging (MRI) completed with cerebral angiography found a giant and occluded AVM within the right orbit. Other AVMs were also found in brain and chest, confirming the diagnosis. Antiglaucomatous eyedrops were added to reduce intraocular pressure and a steroid therapy was begun. Two months later, visual acuity decreased in the right eye, due to a central retinal vein thrombosis. In conclusion, Most brain or pulmonary AVM can be treated by embolization. By contrast, this treatment in case of orbital location can lead to central retinal artery and/or central retinal vein occlusion, which may also appear as a spontaneous complication of the orbital AVM. Therapeutic management of orbital AVM is thus not standardized, and the balance between spontaneous and iatrogenic risk of visual loss has to be taken into account.

scholarly journals Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations

2014 ◽  
Vol 3 (1) ◽  
pp. 49-52
Author(s):  
Apollonia Desiate ◽  
Stefania Cantore ◽  
Andrea Ballini
Keyword(s):  
Family History ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Oral Manifestations ◽  
Systemic Diseases ◽  
Recurrent Epistaxis ◽  
History Of ◽  
Broad Understanding

ABSTRACT The case of a 74-year-old man who was diagnosed as having hereditary hemorrhagic telangiectasia (HHT), with telangiectasies localized in oral district is presented. This condition is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia in which telangiectasia, arteriovenous malformations and aneurysms may be widely distributed throughout the cardiovascular system. It is usually recognized as a ‘triad’ of telangiectasia, recurrent epistaxis and a family history of the disorder. The nature of the practice of dentistry necessitates a broad understanding of the systemic diseases reflected in the oral cavity. Hereditary hemorrhagic telangiectasia is one such disease. How to cite this article Ballini A, Cantore S, Desiate A. Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations. Int J Experiment Dent Sci 2014; 3(1): 49-52.

RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports

2020 ◽  
pp. jmedgenet-2019-106792
Author(s):  
Mostafa El Hajjam ◽  
Ahmed Mekki ◽  
Aurelien Palmyre ◽  
Melanie Eyries ◽  
Florent Soubrier ◽  
...  
Keyword(s):  
Ct Scan ◽  
Arteriovenous Malformations ◽  
Case Reports ◽  
Lower Lobe ◽  
Left Lobe ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Portocaval Shunt ◽  
Cerebral Arteriovenous Malformations ◽  
Receptor Like Kinase ◽  
The Right

Background We report two cases of RASA1-related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT).Methods and results A 28-year-old man, previously embolised for cerebral arteriovenous malformations (AVMs), presented with epistaxis and typical nasal telangiectasias of HHT. CT scan revealed a large portocaval shunt. The second patient was a 9-year-old girl presenting with cyanosis and several mucocutaneous telangiectasias, similar to those observed in typical cases of HHT. CT scan revealed a huge and complex pulmonary AVM of the right lower lobe and a hepatic AVM within the left lobe. HHT diagnosis was considered possible according to the Curaçao criteria for the two patients, with at least two criteria for each. Genetic tests did not find any mutation in the three classic genes (Endoglin, Activin receptor-like kinase 1 or Mothers against decapentaplegic homolog 4), but identified in both cases an RASA1 mutation, known to cause CM-AVM1 syndrome.Conclusions Pulmonary AVM and portocaval shunt, usually encountered in HHT, have not yet been described in the CM-AVM1 syndrome. RASA1 screening may be considered in case of HHT suspicion, particularly when mutations are not found in the usually affected genes.

scholarly journals Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Olivier Dupuis ◽  
Laura Delagrange ◽  
Sophie Dupuis-Girod
Keyword(s):  
Heart Failure ◽  
Literature Review ◽  
Arteriovenous Malformations ◽  
Case Reports ◽  
Case Series ◽  
Main Body ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Review Of The Literature ◽  
Management Decisions ◽  
Recurrent Epistaxis

Abstract Background Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and central nervous system. The aim here was to carry out a review of the literature on HHT complications during pregnancy in order to guide management decisions. Main body A literature review was carried out to analyse all publications on complications that occurred during pregnancy in women with HHT. The PubMed/Medline and Scopus databases were searched. The complications observed in HHT women during pregnancy were then described. The authors identified 5 case series and 31 case reports that describe the evolution of 1577 pregnancies in 630 women with HHT. The overall maternal death rate described in the case series was estimated at 1.0% of pregnancies in the case series and 2 maternal deaths occurred in 31 pregnancy case reports. Severe maternal complications occurred in 2.7 to 6.8% of pregnancies in the case series. Severe complications occurred mostly in the second and third trimester in non-diagnosed and non-screened HHT patients. Severe complications were related to visceral involvement. The most frequent complications were related to pulmonary arteriovenous malformations (PAVMs) (haemothorax (n = 10), haemoptysis (n = 4), and severe hypoxaemia (n = 3)). Neurological complications were related to PAVMs in one case (right to left shunt) and to cerebral arteriovenous malformations (CAVM) and intracranial haemorrhage in 2 cases. Complications were related to hepatic arteriovenous malformations (HAVMs) in 8 cases (acutely decompensated heart failure due to hepatic involvement (n = 1), dyspnoea related to heart failure (n = 5), and hepatobiliary necrosis (n = 2)). Conclusion Based on the literature review, most pregnancies in HHT women occur normally. However, these pregnancies should be considered high-risk, given the potential life-threatening events related to AVM rupture. Furthermore, there is currently no international consensus regarding the medical follow-up of pregnancy in women with HHT and the aim here was to carry out a review of the literature in order to guide screening and management decisions for this rare disease.

Esthesioneuroblastoma (ENB): A case report

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 15546-15546
Author(s):  
E. Troncoso ◽  
S. Bonicatto ◽  
A. Mainella ◽  
A. Barbero ◽  
M. Lavezzaro ◽  
...  
Keyword(s):  
Case Report ◽  
Maxillary Sinus ◽  
Soft Palate ◽  
Sensory System ◽  
Clinical Manifestations ◽  
Response To Therapy ◽  
Nasal Fossa ◽  
History Of ◽  
Left Maxillary Sinus ◽  
The Right

15546 Background: ENB is a rare embrionary tumor derived from neuroblasts of the olfactory sensory system. Polypoid mass with epistaxis or nasal obstruction are the most common clinical manifestations of this tumor. It’s invasive and it frequently causes regional and distant metastasis. ENB requires a multimodality therapy. The objective of this study is to describe the form of presentation, diagnosis, treatment and evolution of this tumor on a female patient (pt), as a casuistic contribution. Methods and Case Report: A 61 year old woman with a four month history of epistaxis, nasal pain and anosmia. CT shows nasal mass invading the entire nasal cavity and upper maxillary. Pt underwent nasal resection and reconstruction with frontal flaps. Anatomopathology: ENB invading the bone. Cromogranin (+), sinaptofisin (+), CK (−), NSE (−). Three months later: lesion on the right wing nasal and a mass in the soft palate. MRI: mass on the floor of the nasal fossa that involve the left maxillary sinus and the bone palate. Kadish stage C. We treated her with three cycles of chemotherapy using cisplatin 30 mg/sqM d 1–3 iv and etoposide 100 mg/sqM d 1–3 iv. After that, remission was observed in the wing nasal lesion but the the soft palate mass shows progression. MRI: mass in nasal fossa that destroys the left maxillary sinus and causes lysis of the upper maxillary and orbital floor. Pt was treated with radiotherapy (6000 cGy) showing complete remission of the nasal lession and partial response on the soft palate, verified by physical examination and RMI. Four months after the end of radiotherapy, she continues under control and maintains the response to therapy without evidence of progression. Conclusion: ENB is an unfrequent tumor without any standard treatment. In our case, the combination of surgery, CH and RT has been effective for local control of the disease with good tolerance and acceptable quality of life. No significant financial relationships to disclose.

scholarly journals CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

2017 ◽  
Author(s):  
Lara Rodriguez-Laguna ◽  
Kristina Ibañez ◽  
Gema Gordo ◽  
Sixto Garcia-Minaur ◽  
Fernando Santos-Simarro ◽  
...  
Keyword(s):  
Natural History ◽  
Developmental Disorders ◽  
Somatic Mosaicism ◽  
Clinical Manifestations ◽  
Tissue Samples ◽  
Lower Lip ◽  
Pik3ca Mutations ◽  
Activating Mutations ◽  
The Face ◽  
History Of

AbstractBackgroundCLAPO syndrome is a rare vascular disorder characterized by Capillary malformation of the lower lip, Lymphatic malformation predominant on the face and neck, Asymmetry, and Partial/generalized Overgrowth. Although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.Subjects and methodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from nine patients using high-throughput, deep sequencing.ResultsWe identified five activating mutations in the PIK3CA gene in affected tissues from six of the nine patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders.ConclusionsWe describe for the first time the presence of somatic activating PIK3CA mutations in patients with CLAPO. We also report an update of the phenotype and natural history of the syndrome.

scholarly journals Hepatic angiosarcoma

2018 ◽  
Vol 97 (6) ◽  
pp. 578-580
Author(s):  
Vivian Nunes Arruda ◽  
Melissa De Andrade ◽  
Rhafir Gonçalves
Keyword(s):  
Clinical Manifestations ◽  
Pulmonary Nodules ◽  
Emergency Laparotomy ◽  
Abdominal Ultrasonography ◽  
Reactive Protein ◽  
Hepatic Angiosarcoma ◽  
History Of ◽  
Rare Malignancy ◽  
Pathology Reports ◽  
The Right

Hepatic Angiosarcoma is a rare malignancy of endothelial cell origin that is generally idiopathic and presents non-specific clinical manifestations. Hemoperitoneum can occur in 17-27% of cases and is a result of tumor rupture, which has a devastating prognosis. We present a 79-year-old female patient with history of diffuse right upper quadrant abdominal pain associated with syncope episodes and unintentional weight loss. Physical examination was unremarkable except for painful palpation of the right upper quadrant. Laboratory exams indicated chronic disease anemia, a 2.7 INR, decreased albumin, increased C-Reactive Protein and GGT, and normal AST, ALT, Alkaline Phosphatase and Bilirubin. Viral hepatitis serologies were negative. Abdominal ultrasonography revealed hepatomegaly and solid liver lesions of heterogeneous echogenicity and imprecise limits. Three-phase abdominal CT showed multiple liver masses of heterogeneous pattern of enhancement suggestive of atypical hemangioma associated with ascites. Chest CT revealed bilateral pulmonary nodules suggestive of metastasis. During hospital stay, the patient developed a massive hemoperitoneum that required emergency laparotomy. In this circumstance, liver and omentum biopsies were performed and the pathology reports ultimately indicated the possibility of hepatic angiosarcoma. The patient developed refractory hemoperitoneum and hemorrhagic shock and ultimately passed away, 48 days after hospital admission. Definitive diagnosis was only available posteriorly, with immunohistochemistry positivity for ERG, CD34 and Factor VIII-related antigen on both omentum and lung samples. This case study provides valuable clinical discussion and emphasizes how a transdisciplinary approach is essential to correctly diagnose and manage such complex cases.

A novel treatment for patients with hereditary haemorrhagic telangiectasia

2002 ◽  
Vol 116 (10) ◽  
pp. 849-850 ◽  
Author(s):  
T. B. Farnan ◽  
G. Gallagher ◽  
C. M. Scally
Keyword(s):  
Fibrin Glue ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Cerebral Arteriovenous Malformations ◽  
Autosomal Dominant Disorder ◽  
Novel Treatment ◽  
Recurrent Epistaxis ◽  
Thin Walled ◽  
Intractable Epistaxis

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by dermal, mucosal, and visceral telangiectases as well as pulmonary and cerebral arteriovenous malformations. Recurrent epistaxis occurs in the majority of patients, and by the very nature of the thin walled vessels involved it is often refractory to conventional forms of treatment. We present the case of an 82-year-old lady with intractable epistaxis secondary to HHT, that was successfully controlled by the application of fibrin glue.

scholarly journals A presentation of hemiplegia and recurrent melena in Osler Weber Rendu syndrome

2020 ◽  
Vol 11 (4) ◽  
pp. 7536-7538
Author(s):  
Ayana S Kumar ◽  
Akshaya Suresh ◽  
Rakhi Krishna ◽  
Anoop Koshy ◽  
Roshni P R
Keyword(s):  
Genetic Disorder ◽  
Systemic Disease ◽  
Multiple Organ ◽  
Proximal Jejunum ◽  
Left Wrist ◽  
Autosomal Dominant Fashion ◽  
Equal Chance ◽  
Receptor Like Kinase ◽  
Small Joint ◽  
History Of

Osler Weber Rendu syndrome, synonymously Hereditary hemorrhagic telangiectasia, is a rare systemic disease with multiple-organ involvement. This genetic disorder inherits in an autosomal dominant fashion, with the incidence found closer to 1 in every 5,000 people. The condition can be diagnosed at any age and has an equal chance of affecting both males and females. A 74-year-old male, having a history of left hemiplegia, was admitted with a recent history of recurrent melena. An upper enteroscopy revealed bleeding telangiectasia in the proximal jejunum managed with hemoclips. The possibility of Osler Weber Rendu syndrome was considered as he developed bleeding recurrently. According to Curacao Criteria, a minimum of two out of four symptoms should be present to ratify the disease, and the presence of three symptoms makes a definite diagnosis. Since there is no cure for the syndrome to date, therapy's mainstay entails meticulous supportive care (focused on managing the manifestations). The disease is a type of arteriovenous malformation associated with the mutation in either endoglin (ENG) or activin A receptor-like kinase-1 (ACVRL1) genes. He was given an intraarticular injection of methotrexate in the left wrist hand because of small joint polyarthritis. The patient was symptomatically and clinically better on discharge. Novel treatment strategy includes bevacizumab and thalidomide though their use has not been clinically approved.

scholarly journals Rendu-Osler-Weber Syndrome: A Case Report

2014 ◽  
Vol 2 (4) ◽  
pp. 613-617
Author(s):  
Vladimir Vukomanović ◽  
Milovan Matović ◽  
Vesna Ignjatović ◽  
Branislav Belić
Keyword(s):  
Case Report ◽  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Deficiency Anemia ◽  
Recurrent Epistaxis ◽  
Weber Syndrome ◽  
Mucous Membranes ◽  
Autosomal Dominance ◽  
Upper Gastrointestinal ◽  
Variable Penetrance

Hereditary hemorrhagic telangectasia (HHT) or Rendu-Osler-Weber syndrome, is a rare genetic disorder with autosomal dominance and variable penetrance. The typical findings of the disease are telangiectasias in skin and mucous membranes, and arteriovenous malformations presenting in the organs like lung, intestine, brain and liver. It is characterized by the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and visceral hemorrhages, with familial occurrence. This article describes a case of HHT of an adult patient, associated with multiple angiodysplasic injuries in the nasal mucosa, upper gastrointestinal tract, lungs and who presents continuous blood loss, resulting iron deficiency anemia. Based on clinical and diagnostic findings, we diagnosed this case as HHT, which has rarely been reported in our literature.

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