Epidemiology of Hereditary Haemorrhagic Telangiectasia (HHT) in Spain

Abstract

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: The ENT point of view

“…The most common symptom of HHT is nosebleed due to a rupture of a nasal telangiectasia (95% of the consultations) 1,5,[12][13][14][15] . This occurs at any age, but they are more common during puberty, pregnancy and menopause.…”

“…Although it was described at the beginning of the 20 th century by Henri Jules Louis Marie Rendu in 1896 2 , William Bart Osler in 1901 3 and Frederick Parkes Weber in 1907 4 , many patients, GPs and specialists still ignore the disease, its morbidities and the modalities of the treatment 5 . That is the reason why we have decided to publish this review on this familiar, evolving and potentially life-threatening disease, whose management can be sometimes a real nightmare for the clinician.…”

“…HHT is inherited 1,[5][6][7][8][9][10][11] . Usually, patients report that relatives (father, mother, grandparents, cousins, children) are known to have the disease, but a non-neglectable number of patients are unaware of the disease, its morbidity and treatment.…”

Non-Coding RNAs and Hereditary Hemorrhagic Telangiectasia

“…Vascular malformations in HHT include skin and mucocutaneous telangiectasias, and pulmonary, cerebral, hepatic and spinal arteriovenous malformations (AVMs) [ 2 , 3 ], all of which are susceptible to rupture with resultant spontaneous hemorrhage. Epistaxis is the most common symptom and is present in approximately 95% of patients [ 4 , 5 ]. HHT is a progressive disorder with significant morbidities and mortality, and lacks a universally effective pharmacological therapy [ 2 ].…”

Anaesthetic management of a parturient with hereditary haemorrhagic telangiectasia (HHT) and pulmonary haemorrhage requiring urgent caesarean section

“…Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant multisystem vascular dysplastic condition, characterised by telangiectasia, recurrent epistaxis and multiorgan arteriovenous malformations (AVMs) 1 2. Average world prevalence is 1:5000–1:8000 3. Urgent management of parturients with HHT requires careful consideration of their specific disease burden: to perform neuraxial anaesthesia in this multisystem vascular disorder without outruling spinal AVM (SAVM) could have devastating effects.…”