Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population (original) (raw)
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Clinical Approach to Hereditary Hemorrhagic Telangiectasia
Journal of IMAB - Annual Proceeding (Scientific Papers), 2013
Background: Hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber disease) is a rare syndrome, inherited as an autosomal dominant trait with incidence of 1/10000. The clinical manifestations are due to vascular malformations and predisposition to hemorrhages in different organs, the leading symptom being recurrent epistaxis. If diagnosed with HHT, the patient and his relatives and especially children have to be screened for occult vascular malformations. Case report: A 30 years old woman was treated for cerebral stroke, epistaxis, anemia, arterio-venous malformations for over 6 months. Only at this point she was diagnosed with HHT, after noticing the typical mucosal changes. Focused family history revealed symptoms of HHT in her only child, her father, aunt and two cousins. The child was screened for occult vascular malformationsattainment of the nasal mucosa, lungs, gastrointestinal system, liver and brain. Pulmonary and gastrointestinal arterio-venous malformations were proven. Conclusion: Any case of recurrent epistaxis should be evaluated for HHT. After confirmation of the diagnosis every patient and close relatives have to be screened for attainment of other organs and followed up in order to prevent severe life threatening complications.
Introduction: Hereditary Hemorrhagic Telangiectasia as a Rare Disease
Current Pharmaceutical Design, 2006
A disease is considered rare in the United States when it affects one individual per 1, 250 and one individual per 2,000 in Europe. Most rare diseases (RD) are of genetic origin; their rarity involves a difficult and/or late diagnosis. The greatest barrier to prevention, diagnosis and treatment of RD is inadequate knowledge. Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder that is becoming more commonly recognised. Recent evidence indicates that it is more frequent (1-2/10,000) than previously estimated. We suppose that the frequent misdiagnosis and the different genetic penetrance have led to an underestimation of real prevalence. In fact, progress in scientific knowledge and improvement in diagnostic and therapeutic technologies has unmasked conditions which were not fully known previously, determining a fictitious decrease in disease frequency.
Epidemiology of Hereditary Haemorrhagic Telangiectasia (HHT) in Spain
Hereditary Genetics, 2016
Aim: To describe epidemiological characteristics of a wide cohort of Spanish patients with hereditary hemorrhagic telangiectasia (HHT)/ Rendu-Osler-Weber disease. Methods and Results: Between 1 January 2002 and 31 December 2013, 667 Spanish patients with suspected HHT were evaluated in the reference HHT Unit in Hospital Sierrallana and 449 were diagnosed by clinical Curaçao criteria and/or genetic test. The diagnostic sensitivity of Curaçao clinical criteria in the population studied was 94.59%. Prevalence was 1:5,936 people and lethality rate of 0.16%. Type 2 HHT was the most prevalent and in total 147 different mutations was identified. Epistaxis was the most prevalent symptom (96.88% of cases) while 95.18% of patients showed typical telangiectasias. Pulmonary involvement was present in 28.25% of patients (by computed tomography) mainly in women and HHT1 cases while liver infection was more prevalent in HHT2 cases. Brain involvement was disclosed in 28.35% of cases. Telangiectasias in conjuctival mucose were very frequent mainly in HHT1 elderly patients. Conclusion: This is the first representative series of epidemiological data on a non-previously evaluated population, showing results about prevalence, genetic distribution and organ infection and disclosing new observations that can help guide the diagnostic and screening procedures for these patients.
Hereditary hemorrhagic telangiectasia: report of 15 affected cases in a Mexican family
Clinical Genetics, 2008
We report a Mexican family with I5 members affected with hereditary hemorrhagic telangiectasia (HHT), all of them suffering from severe hemorrhagic episodes treated with multiple blood transfusions; one patient had a cerebral arteriovenous fistula that required surgical treatment and two others had severe cirrhosis of the liver. Clinical findings in this family illustrate the variable expressivity in HHT, which should be taken into account for the purpose of genetic ccunselling and monitoring for early detection of systemic complications.
Common bleeding disorders affecting individuals with Hereditary Hemorrhagic Telangiectasia
Clinical and investigative medicine. Médecine clinique et experimentale, 2016
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder affecting vasculature in different organ systems; seen at a rate of approximately 1:5000 in North America. Complications, with significant increases in health service utilization, arise from bleeding and shunts, and are particularly problematic in the lung and liver. Although these patients tend to chronically bleed from the GI tract and nasal cavities, a single bleed from arterio-venous malformations in the lungs or brain can have serious health implications and may be fatal. Bleeding due to vascular wall fragility in HHT patients can be further complicated with a concomitant bleeding disorder. The proportion of adult patients seen in the Edmonton HHT center with a concomitant bleeding disorder, as assessed by blood test results for Factor VIII and related factors (Ristocetin Cofactor), Factor IX and Factor XI, was determined in a retrospective, single centre study. Of 77 individuals with HHT, four had be...
Gender differences in hereditary hemorrhagic telangiectasia severity
Orphanet Journal of Rare Diseases
Background Gender differences in organ involvement and clinical severity have been poorly described in hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to describe differences in the severity of HHT manifestations according to gender. Methods Severity was measured according to Epistaxis Severity Score (ESS), Simple Clinical Scoring Index for hepatic involvement, a general HHT-score, needing for invasive treatment (pulmonary or brain arteriovenous malformations -AVMs- embolization, liver transplantation or Young’s surgery) or the presence of adverse outcomes (severe anemia, emergency department -ED- or hospital admissions and mortality). Results One hundred forty-two (58.7%) women and 100 (41.3%) men were included with a mean age of 48.9 ± 16.6 and 49 ± 16.5 years, respectively. Women presented hepatic manifestations (7.1% vs 0%) and hepatic involvement (59.8% vs 47%), hepatic AVMs (28.2% vs 13%) and bile duct dilatation (4.9% vs 0%) at abdominal CT, and pulmona...
Orphanet Journal of Rare Diseases, 2020
Background Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent, spontaneous bleeding and development of iron deficiency anemia. The primary objective of this study was to ascertain the relationship between epistaxis severity scores (ESS), laboratory values, genotype, and phenotype in HHT. Our secondary objective was to assess efficacy of systemic antifibrinolytic therapy in reducing ESS in HHT. Methodology We conducted a retrospective review of patients seen at the UNC HHT Center from January 1, 2009 to February 28, 2015. ESS, demographics, and results of genetic testing were abstracted from the medical record. Response to antifibrinolytic therapy was evaluated by comparing pre-post ESS. Results One hundred and forty nine patients were eligible with 116 having genetic testing and 33 without. Age, hemoglobin and ferritin levels ...
The Journal of pediatrics, 2018
To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and adolescents. This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard against which the clinical Curaçao criteria were compared. Patients were divided into 4 age categories: 0-5, 6-10, 11-15, and 16-21-years. Sensitivity and specificity were calculated for each age group, and for the overall population. Overall the Curaçao criteria had a sensitivity of 68% (95% CI 60%-76%) and a specificity of 98% (95% CI 91%-100%). Sensitivity was lowest in the 0- to 5-year group, and increased with advancing age. The Curaçao criteria had the highest sensitivity in the 16- to 21-year-olds. Specificity was 100% in all age groups except for the 11- to 15-year-olds. This study evaluated the use of the Curaçao criteria...