Hereditary haemorrhagic telangiectasia in Benghazi, Libya; a population‑based study of incidence and prevalence (RCD code: I‑O)

Oliver De Neini

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Abstract


Background: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder characterised by the formation of aberrant arteriovenous malformations (AVMs). Few studies have described the epidemiology and incidence of this rare disease. Aims: This study aims to identify the incidence and prevalence of HHT in the general population of Benghazi, Libya. Materials and methods: All living patients as of 30th April 2014 who have received a diagnosis of HHT in Benghazi (Libya) were identified, as well as all patients who were diagnosed with HHT between 1st May 2013 and the 30th April 2014. These patients were identified through written enquiries sent out to the cardiology, haematology, vascular medicine, and emergency departments of all hospitals in Benghazi (15 departments). All inquiries were answered. Results: The number of living patients diagnosed with HHT as of 30th April 2014 was 121. The current estimated population of Benghazi (according to the latest census in 2006) is 670,797, producing a prevalence of HHT in Benghazi of 18.0 per 100,000. The number of new HHT diagnoses in the period of 1st May 2013 – 30th April 2014 was 8, producing an incidence of 1.19 per 100,000 person-years. Conclusion: This study identifies the incidence and prevalence of HHT in Benghazi. The prevalence seen is higher than has been identified in other populations, and more must be done to identify all patients with this severe genetic disorder. JRCD 2014; 1 (8): 11–14


Keywords


hereditary haemorrhagic telangiectasia, incidence, Libya

References


Govani F, Shovlin C. Hereditary haemorrhaic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009; 17: 860–871.

Gibbs DD. Rendu-Osler-Weber disease: a triple eponymous title lives on. J R Soc Med 1986; 79: 742–743.

Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992; 29: 527–530.

Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32: 291–297.

Vincent P, Plauchu H, Hazan J, et al. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995; 4: 945–949.

Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia:a disorder in search of the genetics community. Am J Med Genet 1994; 52: 252–253.

Porteous ME, Curtis A, Williams O, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994; 31: 925–926.

Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999; 245: 31–39.

Shovlin C. Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment. Blood Reviews 2010; 24: 203–219.

McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis. Genetics in Medicine 2011; 13: 607–616.

Assar A. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Am J Gastroenterol 1991; 101: 977–980.

Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000; 95: 415–418.

Cottin V, Plauchu H, Bayle JY, et al. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004; 169: 994–1000.

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. Hereditary hemorrhagic telangiectasia: an overview of diagnostic and management in the molecular era for clinicians. Genet Med 2004; 6: 175–191.

Hitchings AE, Lennox PA, Lund VJ, Howard DJ. The effect of treatment for epistaxis secondary to hereditary hemorrhagic telangiectasia. Am J Rhinol 2005; 19: 75–78.

Trerotola SO, Pyeritz RE. PAVM embolization: an update. Am J Roentgenol 2010; 195: 837–845.

Fulbright RK, Chaloupka JC, Putman CM, et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol 1998; 19: 477–484.

Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Gen 2011; 48: 73–87.

Buscarini E, Plauchu H, Garcia Tsao G, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int 2006; 26: 1040–1046.

Lerut J, Orlando G, Adam R, et al. Liver transplantation for hereditary hemorrhagic telangiectasia: report of the European liver transplant registry. Ann Surg 2006; 244: 854–862.

Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91: 66–67.

Tadmouri G, Pratibha N, Obeid T, et al. Consanguinity and reproductive health among Arabs. Reprod Health 2009; 6: 17.

Broadhead RC, Sehgal KC. Consanguinity and congenital anomalies in East Libya. Garyounis Med J. 1981; 4: 3–6.

Mir NA, Galczek WC, Soni A. Easily identifiable congenital malformations in children Survey of incidence and pattern in 32,332 live born neonates. Annals of Saudi Medicine 1992; 12: 366–371.




DOI: http://dx.doi.org/10.20418%2Fjrcd.vol1no8.143

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