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Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
Hereditary haemorrhagic telangiectasia is inherited as an autosomal dominant condition. The telangiectases may first be seen in adolescence, their number increasing thereafter, peaking between the ages of 45-60 years. Visceral telangiectases and AV malformations may occur in the lungs, liver and spleen. Patients generally require continuous iron therapy to correct the tendency to iron deficiency anaemia.
Unusual Inherited Pulmonary Diseases Which Provide Clues to Pulmonary Physiology and Function
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Thomas Κ. C. King, Robert A. Norum
In those patients in whom pulmonary arteriovenous fistula is associated with hereditary hemorrhagic telangiectasia, a hereditary etiology is evident. Hereditary hemorrhagic telangiectasia has been extensively reviewed by several authors, including some detailed family studies covering six generations [83-86]. A total of 264 families had appeared in the literature by 1950 [84]. Analysis of the 1622 persons in 112 families in which details were available showed that 56% were afflicted with the disease. The incidence of males and females were equal and the disorder was transmitted with equal frequency by either sex. Thus, a simple autosomal dominant mode of transmission is generally accepted. In one family study in which 231 out of a total of 331 members through six generations were examined, 40% were found to have telangiectasia and 6% had pulmonary arteriovenous fistulas. The frequency of arteriovenous fistula in those with telangiectasia in this family was therefore 15% [86]. In a comparison between the genetic and sporadic form of pulmonary arteriovenous fistula, it was found that occurrence with hereditary hemorrhagic telangiectasia is associated with multiplicity of fistulas, an increased rate of growth and an increased incidence of complications [87].
How much pharmacological therapy can be incorporated in venous malformations management?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
Hereditary hemorrhagic telangiectasia has been well studied, and several medical therapies have been proposed. Topical or systemic agents to prevent epistaxis and other sites of bleeding include thalidomide/pomalidomide, bevacizumab/ranibizumab, pazopanib, doxycycline (NCT03397004), propranolol, timolol, and other agents23–25 (https://clinicaltrials.gov/ct2/results?cond=hht&term=&cntry=&state=&city=&dist=).
Neurologic conditions in Hereditary Hemorrhagic Telangiectasia with pulmonary arteriovenous malformations: Database study
Published in Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 2023
Chester Lau, Joel Agarwal, Ben Vandermeer, W. Ted Allison, Thomas Jeerakathil, Dilini Vethanayagam
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder affecting vascular maturation in different organ systems.1–3 Recent work through the Edmonton HHT Center has established a prevalence of 1:3800 people in Alberta, Canada,4 higher than the estimated North American prevalence (1:5000).5–7 HHT is characterized by mucocutaneous telangiectasia, recurrent spontaneous epistaxis, visceral arteriovenous malformations (AVMs) in cerebral, pulmonary and gastrointestinal mucosa, and a first-degree family history with HHT.8,9 Clinical diagnosis for HHT is achieved through the Curaçao criteria.1 HHT diagnosis is considered definite if three or more of the following Curaçao criteria are present, possible/suspected if 2 of 4 criteria are present, and unlikely if 1 of 4 criteria are present: (a) epistaxis; (b) multiple telangiectasias of the lip, oral cavity, fingers and/or nose; (c) visceral lesions; and (d) a first-degree relative with HHT diagnosed through these criteria.1,10,11
Monoclonal antibodies used for the management of hemataological disorders
Published in Expert Review of Hematology, 2022
Kanjaksha Ghosh, Kinjalka Ghosh
This is a mouse monoclonal antibody humanized through recombinant DNA technology. So it’s a humanized monoclonal antibody against vascular endothelial growth factor – A (VEGF-A). By neutralizing this growth factor and preventing it to attach to its cognate receptors this monoclonal antibody prevents angiogenesis of various kinds and has been used for many solid tumors along with chemotherapy or other targeted therapies. Because of its angiogenesis inhibitory effect, it can cause innumerable side effects like gut perforation, nonhealing ulcers, hypertension to name a few. It can also cause blindness when used to treat neoangiogenesis in the eye. In the field of hematology it has found its usage to treat extensive hereditary hemorrhagic telangiectasia involving liver and lungs causing significant shunting of blood and mass lesion [83–85]. Currently, this antibody is also being evaluated with other antibodies for immunotherapy of refractory MM [86]. Fake drug has been reported for this antibody in the market. Bevacizumab is marketed in India by many subsidiary companies using different names.
Intractable bleeding from the renal pelvis in a patient with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)
Published in Scandinavian Journal of Urology, 2020
L. F. Qvigstad, O. J. Grøtta, C. Hammarström, E. Baco
Hereditary haemorrhagic telangiectasia is an autosomal dominant disease that affects 1 in 5–8000 and leads to the development of abnormal vascular structures such as telangiectasias and arteriovenous malformations, in which the latter most commonly affects pulmonary, hepatic and cerebral circulations [1]. Affection of the renal pelvis is an exceptionally rare manifestation and has only been described in two previous case reports requiring embolization [2] and surgery [3], respectively. One cohort study including 11 patients with HHT, where renal structure and function were assessed, found no evidence supporting renal involvement in this disease [4]. Renal arteriovenous malformations are rarely seen unless it is after trauma or iatrogenic injury, in which case it would be defined as an arteriovenous fistula. Further research would be needed to define the role of renal arteriovenous malformations in the context of HHT. This case reports a female patient with an advanced stage of HHT, including systemic comorbidities, where the intractable bleeding from the renal pelvis demanded a sequential approach, gradually increasing the invasiveness, before ultimately being successfully treated with laparoscopic surgery.