Title |
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
|
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Published in |
Orphanet Journal of Rare Diseases, June 2012
|
DOI | 10.1186/1750-1172-7-33 |
Pubmed ID | |
Authors |
Paola Pierucci, Gennaro M Lenato, Patrizia Suppressa, Patrizia Lastella, Vincenzo Triggiani, Raffaella Valerio, Mario Comelli, Daniela Salvante, Alessandro Stella, Nicoletta Resta, Giancarlo Logroscino, Francesco Resta, Carlo Sabbà |
Abstract |
The difficulty in establishing a timely correct diagnosis is a relevant matter of concern for several rare diseases. Many rare-disease-affected patients suffer from considerable diagnostic delay, mainly due to their poor knowledge among healthcare professionals, insufficient disease awareness among patients' families, and lack of promptly available diagnostic tools. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal-dominantly inherited vascular dysplasia, affecting 1:5,000-10,000 patients. HHT is characterized by high variability of clinical manifestations, which show remarkable overlapping with several common diseases. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 58 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 9 | 16% |
Student > Ph. D. Student | 7 | 12% |
Student > Bachelor | 6 | 10% |
Researcher | 6 | 10% |
Other | 4 | 7% |
Other | 9 | 16% |
Unknown | 17 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 17 | 29% |
Biochemistry, Genetics and Molecular Biology | 6 | 10% |
Nursing and Health Professions | 5 | 9% |
Agricultural and Biological Sciences | 4 | 7% |
Social Sciences | 3 | 5% |
Other | 7 | 12% |
Unknown | 16 | 28% |