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Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?

Latino GA, Brown D, Glazier RH, Weyman JT, Faughnan ME - Orphanet J Rare Dis (2014)

Bottom Line: There were no significant differences between urban and rural prevalence rates.Variation in prevalence was seen across age groups, with greater prevalence in older adults (≥50 years-old) compared with adults 20-49 years-old (0.36 versus 0.26 per 5000, p < 0.0005).Given that patients with HHT frequently consult ENT physicians for epistaxis prior to HHT diagnosis, and that there is almost universal access to ENTs in Ontario, we propose targeting ENT clinics as a province-wide approach to detect undiagnosed HHT patients and families.

View Article: PubMed Central - HTML - PubMed

Affiliation: Toronto HHT Program, Department of Medicine, Division of Respirology, St, Michael's Hospital, Toronto, Canada. giuseppejoey.latino@sickkids.ca.

ABSTRACT

Background: Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American population. We hypothesized that variation would exist in the diagnosed prevalence (D-prevalence) across regions in the province of Ontario, Canada and across age groups, due to under-diagnosis in certain groups. Our secondary objective was to collect data regarding contact and local access to consult specialists by HHT patients to help guide potential future diagnostic programs.

Methods: Primary objective- 556 adult patients with a definite HHT diagnosis seen at the Toronto HHT Centre were identified and geocoded with postal codes. Prevalence rates were calculated using Canadian census data. Secondary objective- A driving network model was developed in ArcGIS. Service area buffers around ear, nose and throat (ENT) clinics in Ontario were generated to evaluate the proportion of the Ontario population with access to these clinics. A survey was also sent to the email contact list of HHT Foundation International, targeting people with diagnosed HHT, regarding consultation with ENT physicians for epistaxis and timing of HHT diagnosis.

Results: Primary objective- D-prevalence rates varied among regions, from no cases to 1.1 cases per 5000 in large Ontario cities. There were no significant differences between urban and rural prevalence rates. Variation in prevalence was seen across age groups, with greater prevalence in older adults (≥50 years-old) compared with adults 20-49 years-old (0.36 versus 0.26 per 5000, p < 0.0005). Secondary objective- Most Ontarians had access to ENT clinics within a 30, 60 and 90 minute modeled drive time (92.7%, 97.8% and 98.6%, respectively). Nearly 40% of surveyed patients consulted an ENT physician for their epistaxis, on average 13.9 ± 12.2 years prior to being diagnosed with HHT.

Conclusions: The prevalence of HHT in Ontario is highly variable across regions and age-groups, suggesting under-diagnosis. Given that patients with HHT frequently consult ENT physicians for epistaxis prior to HHT diagnosis, and that there is almost universal access to ENTs in Ontario, we propose targeting ENT clinics as a province-wide approach to detect undiagnosed HHT patients and families.

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Related in: MedlinePlus

City size versus D-prevalence in large cities in Ontario, Canada. In order to eliminate overestimation biases due to large families with HHT living in small cities, the D-prevalence of HHT was compared in large cities, defined as those centers with a population ≥50,000. Even amongst these cities, there was still significant variation in the D-prevalence across regions, which ranged from no cases to 1.1 cases per 5000 adults. There was no correlation between the population size and the D-prevalence (R2 = 0.0005).
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Figure 3: City size versus D-prevalence in large cities in Ontario, Canada. In order to eliminate overestimation biases due to large families with HHT living in small cities, the D-prevalence of HHT was compared in large cities, defined as those centers with a population ≥50,000. Even amongst these cities, there was still significant variation in the D-prevalence across regions, which ranged from no cases to 1.1 cases per 5000 adults. There was no correlation between the population size and the D-prevalence (R2 = 0.0005).

Mentions: Of the 34 large cities (population ≥50,000 adults) in Ontario, there was no correlation (R2 = 0.0005) between the population size and the D-prevalence, which ranged from no cases to 1.1 cases per 5000 adults (Figure 3).


Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?

Latino GA, Brown D, Glazier RH, Weyman JT, Faughnan ME - Orphanet J Rare Dis (2014)

City size versus D-prevalence in large cities in Ontario, Canada. In order to eliminate overestimation biases due to large families with HHT living in small cities, the D-prevalence of HHT was compared in large cities, defined as those centers with a population ≥50,000. Even amongst these cities, there was still significant variation in the D-prevalence across regions, which ranged from no cases to 1.1 cases per 5000 adults. There was no correlation between the population size and the D-prevalence (R2 = 0.0005).
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4222286&req=5

Figure 3: City size versus D-prevalence in large cities in Ontario, Canada. In order to eliminate overestimation biases due to large families with HHT living in small cities, the D-prevalence of HHT was compared in large cities, defined as those centers with a population ≥50,000. Even amongst these cities, there was still significant variation in the D-prevalence across regions, which ranged from no cases to 1.1 cases per 5000 adults. There was no correlation between the population size and the D-prevalence (R2 = 0.0005).
Mentions: Of the 34 large cities (population ≥50,000 adults) in Ontario, there was no correlation (R2 = 0.0005) between the population size and the D-prevalence, which ranged from no cases to 1.1 cases per 5000 adults (Figure 3).

Bottom Line: There were no significant differences between urban and rural prevalence rates.Variation in prevalence was seen across age groups, with greater prevalence in older adults (≥50 years-old) compared with adults 20-49 years-old (0.36 versus 0.26 per 5000, p < 0.0005).Given that patients with HHT frequently consult ENT physicians for epistaxis prior to HHT diagnosis, and that there is almost universal access to ENTs in Ontario, we propose targeting ENT clinics as a province-wide approach to detect undiagnosed HHT patients and families.

View Article: PubMed Central - HTML - PubMed

Affiliation: Toronto HHT Program, Department of Medicine, Division of Respirology, St, Michael's Hospital, Toronto, Canada. giuseppejoey.latino@sickkids.ca.

ABSTRACT

Background: Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American population. We hypothesized that variation would exist in the diagnosed prevalence (D-prevalence) across regions in the province of Ontario, Canada and across age groups, due to under-diagnosis in certain groups. Our secondary objective was to collect data regarding contact and local access to consult specialists by HHT patients to help guide potential future diagnostic programs.

Methods: Primary objective- 556 adult patients with a definite HHT diagnosis seen at the Toronto HHT Centre were identified and geocoded with postal codes. Prevalence rates were calculated using Canadian census data. Secondary objective- A driving network model was developed in ArcGIS. Service area buffers around ear, nose and throat (ENT) clinics in Ontario were generated to evaluate the proportion of the Ontario population with access to these clinics. A survey was also sent to the email contact list of HHT Foundation International, targeting people with diagnosed HHT, regarding consultation with ENT physicians for epistaxis and timing of HHT diagnosis.

Results: Primary objective- D-prevalence rates varied among regions, from no cases to 1.1 cases per 5000 in large Ontario cities. There were no significant differences between urban and rural prevalence rates. Variation in prevalence was seen across age groups, with greater prevalence in older adults (≥50 years-old) compared with adults 20-49 years-old (0.36 versus 0.26 per 5000, p < 0.0005). Secondary objective- Most Ontarians had access to ENT clinics within a 30, 60 and 90 minute modeled drive time (92.7%, 97.8% and 98.6%, respectively). Nearly 40% of surveyed patients consulted an ENT physician for their epistaxis, on average 13.9 ± 12.2 years prior to being diagnosed with HHT.

Conclusions: The prevalence of HHT in Ontario is highly variable across regions and age-groups, suggesting under-diagnosis. Given that patients with HHT frequently consult ENT physicians for epistaxis prior to HHT diagnosis, and that there is almost universal access to ENTs in Ontario, we propose targeting ENT clinics as a province-wide approach to detect undiagnosed HHT patients and families.

Show MeSH
Related in: MedlinePlus