Applicability of the Curacao Criteria for the Diagnosis of HHT in the Pediatric Population

Kristy S. Pahl, MD, Arkopal Choudhury, MStat, Katie Wusik, LGC, Adrienne Hammill, MD, PhD4, Andrew White, MD, Katharine Henderson, MS, Jeffrey Pollak, MD, and Raj S. Kasthuri, MD  (The Journal of Pediatrics 2018)

Objective: To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic
telangiectasia (HHT) in children and adolescents.

Study design: This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard
against which the clinical Curaçao criteria were compared. Patients were divided into 4 age categories: 0-5, 6-10,
11-15, and 16-21-years. Sensitivity and specificity were calculated for each age group, and for the overall population.

Results: Overall the Curaçao criteria had a sensitivity of 68% (95% CI 60%-76%) and a specificity of 98% (95%
CI 91%-100%). Sensitivity was lowest in the 0- to 5-year group, and increased with advancing age. The Curaçao
criteria had the highest sensitivity in the 16- to 21-year-olds. Specificity was 100% in all age groups except for the 11- to 15-year-olds.

Conclusions: This study evaluated the use of the Curaçao criteria for the diagnosis of HHT in the pediatric population with a family history of HHT. In those between the age of 0 and 21 years who meet 1 criterion (unlikely HHT) or 2 criteria (possible HHT), genetic testing is preferred for diagnosis. The Curaçao criteria appear to reliably diagnose HHT in children and adolescents who meet 3 or 4 criteria (definite HHT).