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Publisher: Peytchinski, Gospodin Iliev
ISSN: 1312 773X (Online)
Issue: 2013, vol. 19, book 3;
Subject Collection: Medicine
Page: 453-456
DOI: 10.5272/jimab.2013193.453
Published online: 08 November 2013
J of IMAB. 2013 Jul-Dec;19(3):453-456
CLINICAL APPROACH TO HEREDITARY HEMORRHAGIC TELANGIECTASIA
Mary Hachmeriyan1 
, Nikolai Sapundzhiev2, Miglena Georgieva1, Nataliq Dobrudjanska1, Venislav Stoyanov1, Dimitrina Konstantinova1, Lyudmila Angelova1.
1) Department of pediatrics and medical genetics,
2) Department of neurosurgery and otorhinolaryngology,
Medical University Varna, Bulgaria.
ABSTRACT:
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 malformations – attainment 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.
Key words: hereditary hemorrhagic telangiectasia; epistaxis; screening;
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Please cite this article as:
Hachmeriyan M, Sapundzhiev N, Georgieva M, Dobrudjanska N, Stoyanov V, Konstantinova D, Angelova L. CLINICAL APPROACH TO HEREDITARY HEMORRHAGIC TELANGIECTASIA. J of IMAB. 2013 Jul-Dec;19(3):453-456. DOI: 10.5272/jimab.2013193.453.
Correspondence to: Dr Mary Hachmeriyan, University Hospital "St. Marina", Varna; 1, Hristo Smirnensky Str., 9010 Varna, Bulgaria; E-mail: mary.hachmeriqn@abv.bg;
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Accepted for publication: 24 May 2013
Published online: 08 November 2013