scholarly journals Hereditary Hemorrhagic Telangiectasia in a Sudanese Patient

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Omer Ali Mohamed Ahmed Elawad ◽  
Ahmed Abdalazim Dafallah Albashir ◽  
Mohammed Mahgoub Mirghani Ahmed ◽  
Ahmed Ali Mohamed Ahmed Elawad ◽  
Osman Eltieb Elbasheer Mohamed
Keyword(s):  
Heart Failure ◽  
Mitral Regurgitation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Hepatic Veins ◽  
Autosomal Dominant Disorder ◽  
Liver Size ◽  
Abdominal Ultrasonography ◽  
Lower Lip ◽  
Her Family ◽  
Recurrent Epistaxis

Background. Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a rare autosomal dominant disorder, which results in vascular dysplasia affecting mainly visceral and mucocutaneous organs. Case Presentation. A 65-year-old woman with a 12-year history of recurrent spontaneous epistaxis presented with shortness of breath, easy fatigability, and bilateral lower limb edema. Her family history was significant for definite hereditary hemorrhagic telangiectasia in first-degree relatives. During the previous 15 days, she has experienced three episodes of recurrent nasal bleeding. She has a background of chronic mitral regurgitation. Physical examination revealed telangiectases in her tongue, lower lip, and hand in addition to signs of congestive heart failure. The patient met 3\4 Curacao criteria and had a definite HHT. Her laboratory workup revealed a hemoglobin count of 5.4 g/dl. Echocardiography revealed a left systolic ejection fraction of 51% with left atrial dilatation and severe mitral regurgitation. Chest X-ray showed features of cardiomegaly and pulmonary edema. The abdominal ultrasonography showed enlarged liver size with homogenous texture and congested hepatic veins without features of hepatic AVMs. She was treated with intravenous frusemide, iron supplement, tranexamic acid, blood transfusion, and nasal packing. Conclusions. HTT usually passes unnoticed in Sudan. The rarity of HHT, difficulties in affording diagnostic imaging studies, and low clinical suspicion among doctors are important contributing factors. Anemia resulting from recurrent epistaxis might have an influential role in precipitating acute heart failure in those with chronic rheumatic valvular disease.

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.

scholarly journals Resveratrol As a Novel Treatment for Recurrent Epistaxis in SMAD4+ Hereditary Hemorrhagic Telangiectasia

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 1048-1048
Author(s):  
Shahbegh Gill ◽  
Shadi Swaidani ◽  
Joseph Parambil ◽  
Keith R. McCrae
Keyword(s):  
Quality Of Life ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Deficiency Anemia ◽  
Severe Bleeding ◽  
Autosomal Dominant Disorder ◽  
Severity Scores ◽  
Recurrent Epistaxis ◽  
History Of

Abstract Introduction Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by the development of arteriovenous malformations or telangiectasias that may affect any organ system, but are most prevalent in the nose and gastrointestinal tract. Nasal telangiectasia account for epistaxis, the most frequent manifestation of HHT, which may be frequent, debilitating and lead to decreased quality of life. Epistaxis is quantified by the Epistaxis Severity Scores (ESS), which ranges from 1-10 with higher scores associated with more severe bleeding. The diagnosis of HHT is based on clinical criteria and requires three or more of the following features: epistaxis, mucocutaneous telangiectasis, visceral AVMs, and/or a family history of HHT. HHT is associated with several mutations that may involve ENG, ACVRL1, or SMAD4; the latter occurs in only ~2% of HHT patients, which is also associated with the Juvenile Polyposis Syndrome (JPS), another autosomal dominant disorder associated with an increased risk for colorectal, stomach, small intestine, and pancreatic cancers. Methods Case report with serial ESS scores, hemoglobin and hematocrit monitoring. Results A 25-year-old male was diagnosed with JPS/HHT and a c.1081C>T mutation in SMAD4 leading to an R361C missense mutation was diagnosed in 2013. The patient had a longstanding history of frequent epistaxis leading to severe iron deficiency anemia and requiring at least two 750 mg iron infusions annually (total of 14), and did not improve with oral iron supplements. In December 2020, the patient initiated a 1 g daily dose of resveratrol for general anti-aging and health benefits. His epistaxis improved immediately, and his ESS decreased from 6 (consistent with severe bleeding) to 1 (no bleeding) over a two week period. The frequency, severity and duration of epistaxis all improved dramatically (Figure). No additional iron therapy has been required since initiation of resveratrol. Recent serum iron and ferritin values (6/2021) were both within normal limits. Of interest, in parallel with the resolution of epistaxis, the patient also had a dramatic reduction in colonic polyposis after starting resveratrol. Conclusions There are no approved therapies for the treatment of HHT, and patients with this disorder may suffer from a markedly reduced quality of life due to unpredictable epistaxis and other manifestations. While a responses to bevacizumab have been reported in 60-70% of patients, treatment is expensive and may be associated with thromboembolic events, and patients may become refractory over time. Invasive approaches such as sclerotherapy may be initially, but only temporarily effective. Thus, there is an urgent need for better HHT therapies. Figure 1 Figure 1. Disclosures McCrae: Sanofi, Novartis, Alexion, and Johnson & Johnson: Consultancy, Honoraria; Dova, Novartis, Rigel, and Sanofi Genzyme: Consultancy.

scholarly journals High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia

2017 ◽  
Vol 5 (1) ◽  
pp. 232470961769283
Author(s):  
Venugopal Brijmohan Bhattad ◽  
Jennifer N. Bowman ◽  
Hemang B. Panchal ◽  
Timir K. Paul
Keyword(s):  
Heart Failure ◽  
Blood Vessels ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Hemoglobin Level ◽  
Blood Disorder ◽  
Recurrent Epistaxis ◽  
High Output Heart Failure ◽  
Abnormal Bleeding ◽  
High Output

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia. We report a patient with HHT who presented with high-output heart failure contributing to REKAS. In patients with REKAS, we propose if anemia is present, REKAS can be avoided by correcting the anemia by increasing the hemoglobin level to greater than 9 to 10 g/dL. This decreases hyperdynamic circulation and reduces pressure in the blood vessels of the nose.

scholarly journals Clinical characteristics of hereditary hemorrhagic telangiectasia - case series and review of the literature

2019 ◽  
Vol 76 (4) ◽  
pp. 452-455
Author(s):  
Dragan Popovic ◽  
Aleksandra Sokic-Milutinovic ◽  
Srdjan Djuranovic ◽  
Tamara Alempijevic ◽  
Sanja Zgradic ◽  
...  
Keyword(s):  
Gastrointestinal Bleeding ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Case Series ◽  
Signs And Symptoms ◽  
Autosomal Dominant Disorder ◽  
Multiple Organs ◽  
Age Related ◽  
Recurrent Epistaxis ◽  
Probable Diagnosis

Introduction. Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder with estimated prevalence of one in 5,000 to 10,000. The disease has age-related penetrance and the HHT signs and symptoms occur and worsen with age. A diagnosis of HHT is based on the Curacao`s criteria. Case report. We report a case series of 6 patients diagnosed with HHT, 5 with definite and one with probable diagnosis according to the Curacao criteria. In 5 patients, the recurrent epistaxis occurred in adolescence as the first presentation while one patient presented with melena. The diagnosis was delayed in 5 patients and the presence of HHT was diagnosed during or after the fifth decade. In 4 patients, the overt gastrointestinal bleeding occurred in the later course of the disease. The asymptomatic pulmonary circulation arteriovenous malformations were detected in 2 patients. The cerebral arteriovenous malformations were not detected. Conclusion. Hereditary hemorrhagic telangiectasia is a rare disorder affecting multiple organs. It should be considered in the adolescents with recurrent epistaxis and in the differential diagnosis of anemia with signs of the gastrointestinal bleeding in order to shorten the delay in the diagnosis and subsequently improve the outcome of the disease.

Hereditary Hemorrhagic Telangiectasia: What the Otolaryngologist Should Know

1997 ◽  
Vol 11 (1) ◽  
pp. 55-62 ◽  
Author(s):  
S. V. Byahatti ◽  
E. E. Rebeiz ◽  
S. M. Shapshay
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Risk Groups ◽  
The Body ◽  
Autosomal Dominant Disorder ◽  
Therapeutic Modalities ◽  
Recurrent Epistaxis ◽  
Primary Physicians ◽  
The Many ◽  
Patients Experience

Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a systemic autosomal dominant disorder involving blood vessels. Phenotypically, the disease presents with telangiectases that involve all areas of the body. Ninety percent of patients experience epistaxis and are referred to the otolaryngologist for evaluation. Because otolaryngologists may be the primary physicians caring for these patients, it is critical they be knowledgeable about high risk groups, screening protocols for arteriovenous malformations, antibiotic prophylaxis, and genetic screening. It is important that they be aware of the many therapeutic modalities available for the treatment of epistaxis. In this article, the diagnosis, screening, treatment, and molecular genetics of HHT will be discussed. In addition, our experience with 20 patients treated with the Nd:YAG laser for recurrent epistaxis will be reviewed.

The Results of the Use of Angiotensin Receptor Inhibitors and Neprilisin in Secondary Functional Mitral Regurgitation in Outpatient Practice

2020 ◽  
Vol 75 (5) ◽  
pp. 514-522
Author(s):  
Alexey S. Ryazanov ◽  
Konstantin I. Kapitonov ◽  
Mariya V. Makarovskaya ◽  
Alexey A. Kudryavtsev
Keyword(s):  
Heart Failure ◽  
Left Ventricle ◽  
Mitral Regurgitation ◽  
Effective Area ◽  
Left Ventricular ◽  
Functional Mitral Regurgitation ◽  
Angiotensin Receptor ◽  
Optimal Drug ◽  
Patients With Heart Failure ◽  
Valsartan Group

Background. Morbidity and mortality in patients with functional mitral regurgitation (FMR) remains high, however, no pharmacological therapy has been proven to be effective.Aimsto study the effect of sacubitrile/valsartan and valsartan on functional mitral regurgitation in chronic heart failure.Methods.This double-blind study randomly assigned sacubitrile/valsartan or valsartan in addition to standard drug therapy for heart failure among 100 patients with heart failure with chronic FMR (secondary to left ventricular (LV) dysfunction). The primary endpoint was a change in the effective area of the regurgitation hole during the 12-month follow-up. Secondary endpoints included changes in the volume of regurgitation, the final systolic volume of the left ventricle, the final diastolic volume of the left ventricle, and the area of incomplete closure of the mitral valves.Results.The decrease in the effective area of the regurgitation hole was significantly more pronounced in the sacubitrile/valsartan group than in the valsartan group (0.070.066against0.030.058sm2; p=0.018)in the treatment efficacy analysis, which included 100patients (100%). The regurgitation volume also significantly decreased in the sacubitrile/valsartan group compared to the valsartan group (mean difference:8.4ml; 95%CI, from 13.2 until 1.9;р=0.21). There were no significant differences between the groups regarding changes in the area ofincomplete closure of the mitral valves and LV volumes, with the exception of the index of the final LV diastolic volume (p=0.07).Conclusion.Among patients with secondary FMR, sacubitril/valsartan reduced MR more than valsartan. Thus, angiotensin receptor inhibitors and neprilysin can be considered for optimal drug treatment of patients with heart failure and FMR.

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