FRACTURE AND SURGICAL BURDEN IN PEDIATRIC AND ADULT PATIENTS WITH HYPOPHOSPHATASIA: RESULTS FROM PATIENT-REPORTED OUTCOME SURVEYS
AACE ePoster Library. Weber T. 05/13/15; 97762; 516
Thomas Weber
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Abstract
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Objective: Hypophosphatasia (HPP) is a rare disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase gene. HPP is characterized by defective skeletal mineralization and diverse complications that may include proximal muscle weakness, pain, and pathological fractures (Fx). Here, we describe the fracture and surgical burden of HPP as assessed by 2 surveys specific to HPP symptomology.
Methods: The Hypophosphatasia Impact Patient Survey (HIPS, internet-based) and Hypophosphatasia Outcomes Study Telephone interview (HOST) were designed to assess the burden of disease in patients (pts) with HPP. Outreach from 2009-2011 by pt advocacy groups or physicians provided awareness of the surveys to pts or caregivers and invited participation. Data are expressed as the percentage of pts who responded to each item; questions common to both surveys were pooled.
Results: 184 pts responded to the surveys: 59 children (mean[SD] age 7.6[5.1] yrs); 125 adults (mean[SD] age 45.0[14.3] yrs). Fx (mean, min-max) were reported in 42% of children (1, 0 8) and 86% of adults (11.6, 0-100). 15% of children had ≥2 Fx; 74% of adults experienced multiple (≥2) Fx, with 47% adults experiencing ≥6 Fx. Children in HIPS (n=44) reported pseudo- (7%) and nonhealing (2%) Fx. 36% of children did require some surgery, most commonly skull (21%) and osteotomy (11%). Adults in HIPS (n=89) reported higher rates of pseudo- (44%) and nonhealing (36%) Fx, with 74% and 44% of HIPS adults requiring surgery and Fx fixation, respectively; other common surgeries included osteotomy (15%) and joint replacement (11%).
Discussion: Fx and surgeries are common in both children and adults with HPP. The majority of adults report pathological and/or multiple Fx, possibly reflecting greater time with disease.
Conclusion: As reported by patients/caregivers, HPP is associated with a high burden of disease. High lifetime incidence of fractures and surgeries in adults suggests progressive morbidity with age.
Methods: The Hypophosphatasia Impact Patient Survey (HIPS, internet-based) and Hypophosphatasia Outcomes Study Telephone interview (HOST) were designed to assess the burden of disease in patients (pts) with HPP. Outreach from 2009-2011 by pt advocacy groups or physicians provided awareness of the surveys to pts or caregivers and invited participation. Data are expressed as the percentage of pts who responded to each item; questions common to both surveys were pooled.
Results: 184 pts responded to the surveys: 59 children (mean[SD] age 7.6[5.1] yrs); 125 adults (mean[SD] age 45.0[14.3] yrs). Fx (mean, min-max) were reported in 42% of children (1, 0 8) and 86% of adults (11.6, 0-100). 15% of children had ≥2 Fx; 74% of adults experienced multiple (≥2) Fx, with 47% adults experiencing ≥6 Fx. Children in HIPS (n=44) reported pseudo- (7%) and nonhealing (2%) Fx. 36% of children did require some surgery, most commonly skull (21%) and osteotomy (11%). Adults in HIPS (n=89) reported higher rates of pseudo- (44%) and nonhealing (36%) Fx, with 74% and 44% of HIPS adults requiring surgery and Fx fixation, respectively; other common surgeries included osteotomy (15%) and joint replacement (11%).
Discussion: Fx and surgeries are common in both children and adults with HPP. The majority of adults report pathological and/or multiple Fx, possibly reflecting greater time with disease.
Conclusion: As reported by patients/caregivers, HPP is associated with a high burden of disease. High lifetime incidence of fractures and surgeries in adults suggests progressive morbidity with age.
Objective: Hypophosphatasia (HPP) is a rare disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase gene. HPP is characterized by defective skeletal mineralization and diverse complications that may include proximal muscle weakness, pain, and pathological fractures (Fx). Here, we describe the fracture and surgical burden of HPP as assessed by 2 surveys specific to HPP symptomology.
Methods: The Hypophosphatasia Impact Patient Survey (HIPS, internet-based) and Hypophosphatasia Outcomes Study Telephone interview (HOST) were designed to assess the burden of disease in patients (pts) with HPP. Outreach from 2009-2011 by pt advocacy groups or physicians provided awareness of the surveys to pts or caregivers and invited participation. Data are expressed as the percentage of pts who responded to each item; questions common to both surveys were pooled.
Results: 184 pts responded to the surveys: 59 children (mean[SD] age 7.6[5.1] yrs); 125 adults (mean[SD] age 45.0[14.3] yrs). Fx (mean, min-max) were reported in 42% of children (1, 0 8) and 86% of adults (11.6, 0-100). 15% of children had ≥2 Fx; 74% of adults experienced multiple (≥2) Fx, with 47% adults experiencing ≥6 Fx. Children in HIPS (n=44) reported pseudo- (7%) and nonhealing (2%) Fx. 36% of children did require some surgery, most commonly skull (21%) and osteotomy (11%). Adults in HIPS (n=89) reported higher rates of pseudo- (44%) and nonhealing (36%) Fx, with 74% and 44% of HIPS adults requiring surgery and Fx fixation, respectively; other common surgeries included osteotomy (15%) and joint replacement (11%).
Discussion: Fx and surgeries are common in both children and adults with HPP. The majority of adults report pathological and/or multiple Fx, possibly reflecting greater time with disease.
Conclusion: As reported by patients/caregivers, HPP is associated with a high burden of disease. High lifetime incidence of fractures and surgeries in adults suggests progressive morbidity with age.
Methods: The Hypophosphatasia Impact Patient Survey (HIPS, internet-based) and Hypophosphatasia Outcomes Study Telephone interview (HOST) were designed to assess the burden of disease in patients (pts) with HPP. Outreach from 2009-2011 by pt advocacy groups or physicians provided awareness of the surveys to pts or caregivers and invited participation. Data are expressed as the percentage of pts who responded to each item; questions common to both surveys were pooled.
Results: 184 pts responded to the surveys: 59 children (mean[SD] age 7.6[5.1] yrs); 125 adults (mean[SD] age 45.0[14.3] yrs). Fx (mean, min-max) were reported in 42% of children (1, 0 8) and 86% of adults (11.6, 0-100). 15% of children had ≥2 Fx; 74% of adults experienced multiple (≥2) Fx, with 47% adults experiencing ≥6 Fx. Children in HIPS (n=44) reported pseudo- (7%) and nonhealing (2%) Fx. 36% of children did require some surgery, most commonly skull (21%) and osteotomy (11%). Adults in HIPS (n=89) reported higher rates of pseudo- (44%) and nonhealing (36%) Fx, with 74% and 44% of HIPS adults requiring surgery and Fx fixation, respectively; other common surgeries included osteotomy (15%) and joint replacement (11%).
Discussion: Fx and surgeries are common in both children and adults with HPP. The majority of adults report pathological and/or multiple Fx, possibly reflecting greater time with disease.
Conclusion: As reported by patients/caregivers, HPP is associated with a high burden of disease. High lifetime incidence of fractures and surgeries in adults suggests progressive morbidity with age.
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