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Assessment of Adherence to Hereditary Angioedema Guidelines in Pediatric Population
Abstracts AB195
J ALLERGY CLIN IMMUNOL VOLUME 135, NUMBER 2
Barriers to the Self-Administration of Medication in the Treatment of Hereditary Angioedema (HAE) Adrian Wang, Medical Student, MSII, Andrew Fouche, Medical Student, MS IV, Timothy J. Craig, DO, FAAAAI; Penn State University College of Medicine, Hershey, PA. RATIONALE: Early therapy of Hereditary Angioedema (HAE) reduces morbidity, improves outcomes, reduces absenteeism, and mortality. This can be accomplished best with self-therapy. Previously we have examined barriers to self-therapy from the perspective of the nurse and physician, but data is lacking on what patients perceive as major barriers to selfadministered therapy for HAE. Our aim was to identify those barriers. METHODS: After IRB approval, we performed a phone survey of HAE patients from a database of patients who were recently seen in clinic. Patients seen for research only were excluded. Patients of all ages were included. The survey focused on anxiety, depression, stress, concerns of route of therapy, the ability to inject themselves, and what they perceive as barriers to providing self-care. RESULTS: Not all patients could be contacted. We contacted 92 patients and 59 agreed to participate. With 69% of those patients currently undergoing self-administered treatment, the results show an increased reduction in depression and anxiety, a higher satisfaction rating with treatment, and greater compliance with treatment. In those not yet on selfadministered therapy, the majority wanted to be, despite being satisfied with the care received in the Emergency Department. They also felt care at home would be optimal. The main concern of both groups was not being able to treat themselves when they need it. CONCLUSIONS: From our data it is obvious that most patients are willing to self-treat. This suggests that physicians should encourage self-treatment of HAE to improve outcomes and quality of life of patients with HAE.
631
Assessment of Adherence to Hereditary Angioedema Guidelines in Pediatric Population Vinitha Reddy, MD1, Timothy J. Craig, DO, FAAAAI2; 1Penn State Hershey Medical Center, Hershey, PA, 2Penn State University College of Medicine, Hershey, PA. RATIONALE: Hereditary angioedema (HAE) is a life threatening and disabling disease caused by a deficiency of C1 esterase inhibitor which may occur at any age, but attacks usually begin during school-age years or adolescence. Evidence based recommendations have been established that describe key components in therapeutic management in specific regards to screening labs and follow up recommendations. The aim of this retrospective study is to determine whether pediatric HAE patients receive quality care consistent with the international consensus expert recommendations. METHODS: Retrospective electronic chart review was performed on 20 pediatric patients with confirmed diagnoses of HAE between 2000 and 2013. This quality assurance study met IRB exception. RESULTS: Of the 20 patients, only 65% were given an acute action plan. Medication use for acute attacks included 58% who received C1 esterase inhibitor (C1-INH), 5% received ecallantide, and 32% received icatibant. For prophylaxis of attacks, only 15% patients received C1-INH. HepatitisB, Hepatitis-C, and HIV screening was performed in only 45% patients. Only 55% patients had annual follow up visits with allergist. CONCLUSIONS: Routine annual follow up, medication action plans, and screening labs prior to blood product administration are lacking in the management of pediatric HAE patients. Quality assurance programs as well adherence to recommended guidelines are important to provide quality care for pediatric HAE patients.
632
Hereditary Angioedema with Normal C1 Inhibitor: An Italian Survey Valeria Bafunno, PhD1, Maria Bova2, Andrea Zanichelli, MD3, Chiara Suffritti, PhD3, Vincenzo Montinaro, MD4, Massimo Triggiani, MD5, Maurizio Margaglione, MD1, Marco Cicardi, MD3; 1Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy, 2Division of Clinical Immunology and Allergy, University ’Federico II’, Naples, Italy, 3Department of Biomedical and Clinical Sciences ‘‘L.Sacco’’ University of Milan, L.Sacco Hospital, Milan, Italy, 4Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema, Department of Emergency and Organ Transplantation, University ‘‘Aldo Moro’’ Bari, Azienda Ospedaliero-Universitaria ‘‘Consorziale Policlinico’’, Bari, Italy, 5Division of Allergy and Clinical Immunology, University of Salerno, Salerno, Italy. RATIONALE: Hereditary Angioedema (HAE) is characterized by sudden swellings of the subcutaneous or submucosal tissues. Most patients have C1-inhibitor (C1-INH) deficiency. HAE with normal C1-INH (nC1INH-HAE) has been described associated to mutations in factor XII (FXIIHAE) or with unknown genetic defect (U-HAE). This study reports the clinical and genetic features of Italian patients with nC1-INH-HAE. METHODS: Subjects were from the Italian network of HAE collecting 1000 entries. Fourteen males and 14 females, from 14 independent families and with normal functional levels of C1-INH, were studied. Twenty-five had history of angioedema. All subjects were investigated for mutations in the whole F12 coding region and SERPING1. RESULTS: No subject had mutations in SERPING1. In F12 we identified mutation p.Thr309Lys in 3 women with angioedema and 3 (2 females and 1 male) asymptomatic relatives of one of them. In the remaining 22 patients the genetic analysis of F12 gene was unsuccessful and no mutation was found. Sequencing analysis revealed the presence of different SNPs that were previously described and do not affect protein activity or function. CONCLUSIONS: Our data identify 3 subjects with FXII-HAE, 3 asymptomatic carriers of F12 mutation and 22 subjects with U-HAE. They indicate that FXII-HAE is less frequent in Italy than in other European countries. This uneven distribution probably results from the fact that p.Thr309Lys, the most common mutation related to FXII-HAE, derives from a common founder. In U-HAE subjects the screening of entire F12 excludes this gene as related to HAE; the underlying cause of this disease remains to be defined.
MONDAY
630
J ALLERGY CLIN IMMUNOL VOLUME 135, NUMBER 2
Barriers to the Self-Administration of Medication in the Treatment of Hereditary Angioedema (HAE) Adrian Wang, Medical Student, MSII, Andrew Fouche, Medical Student, MS IV, Timothy J. Craig, DO, FAAAAI; Penn State University College of Medicine, Hershey, PA. RATIONALE: Early therapy of Hereditary Angioedema (HAE) reduces morbidity, improves outcomes, reduces absenteeism, and mortality. This can be accomplished best with self-therapy. Previously we have examined barriers to self-therapy from the perspective of the nurse and physician, but data is lacking on what patients perceive as major barriers to selfadministered therapy for HAE. Our aim was to identify those barriers. METHODS: After IRB approval, we performed a phone survey of HAE patients from a database of patients who were recently seen in clinic. Patients seen for research only were excluded. Patients of all ages were included. The survey focused on anxiety, depression, stress, concerns of route of therapy, the ability to inject themselves, and what they perceive as barriers to providing self-care. RESULTS: Not all patients could be contacted. We contacted 92 patients and 59 agreed to participate. With 69% of those patients currently undergoing self-administered treatment, the results show an increased reduction in depression and anxiety, a higher satisfaction rating with treatment, and greater compliance with treatment. In those not yet on selfadministered therapy, the majority wanted to be, despite being satisfied with the care received in the Emergency Department. They also felt care at home would be optimal. The main concern of both groups was not being able to treat themselves when they need it. CONCLUSIONS: From our data it is obvious that most patients are willing to self-treat. This suggests that physicians should encourage self-treatment of HAE to improve outcomes and quality of life of patients with HAE.
631
Assessment of Adherence to Hereditary Angioedema Guidelines in Pediatric Population Vinitha Reddy, MD1, Timothy J. Craig, DO, FAAAAI2; 1Penn State Hershey Medical Center, Hershey, PA, 2Penn State University College of Medicine, Hershey, PA. RATIONALE: Hereditary angioedema (HAE) is a life threatening and disabling disease caused by a deficiency of C1 esterase inhibitor which may occur at any age, but attacks usually begin during school-age years or adolescence. Evidence based recommendations have been established that describe key components in therapeutic management in specific regards to screening labs and follow up recommendations. The aim of this retrospective study is to determine whether pediatric HAE patients receive quality care consistent with the international consensus expert recommendations. METHODS: Retrospective electronic chart review was performed on 20 pediatric patients with confirmed diagnoses of HAE between 2000 and 2013. This quality assurance study met IRB exception. RESULTS: Of the 20 patients, only 65% were given an acute action plan. Medication use for acute attacks included 58% who received C1 esterase inhibitor (C1-INH), 5% received ecallantide, and 32% received icatibant. For prophylaxis of attacks, only 15% patients received C1-INH. HepatitisB, Hepatitis-C, and HIV screening was performed in only 45% patients. Only 55% patients had annual follow up visits with allergist. CONCLUSIONS: Routine annual follow up, medication action plans, and screening labs prior to blood product administration are lacking in the management of pediatric HAE patients. Quality assurance programs as well adherence to recommended guidelines are important to provide quality care for pediatric HAE patients.
632
Hereditary Angioedema with Normal C1 Inhibitor: An Italian Survey Valeria Bafunno, PhD1, Maria Bova2, Andrea Zanichelli, MD3, Chiara Suffritti, PhD3, Vincenzo Montinaro, MD4, Massimo Triggiani, MD5, Maurizio Margaglione, MD1, Marco Cicardi, MD3; 1Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy, 2Division of Clinical Immunology and Allergy, University ’Federico II’, Naples, Italy, 3Department of Biomedical and Clinical Sciences ‘‘L.Sacco’’ University of Milan, L.Sacco Hospital, Milan, Italy, 4Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema, Department of Emergency and Organ Transplantation, University ‘‘Aldo Moro’’ Bari, Azienda Ospedaliero-Universitaria ‘‘Consorziale Policlinico’’, Bari, Italy, 5Division of Allergy and Clinical Immunology, University of Salerno, Salerno, Italy. RATIONALE: Hereditary Angioedema (HAE) is characterized by sudden swellings of the subcutaneous or submucosal tissues. Most patients have C1-inhibitor (C1-INH) deficiency. HAE with normal C1-INH (nC1INH-HAE) has been described associated to mutations in factor XII (FXIIHAE) or with unknown genetic defect (U-HAE). This study reports the clinical and genetic features of Italian patients with nC1-INH-HAE. METHODS: Subjects were from the Italian network of HAE collecting 1000 entries. Fourteen males and 14 females, from 14 independent families and with normal functional levels of C1-INH, were studied. Twenty-five had history of angioedema. All subjects were investigated for mutations in the whole F12 coding region and SERPING1. RESULTS: No subject had mutations in SERPING1. In F12 we identified mutation p.Thr309Lys in 3 women with angioedema and 3 (2 females and 1 male) asymptomatic relatives of one of them. In the remaining 22 patients the genetic analysis of F12 gene was unsuccessful and no mutation was found. Sequencing analysis revealed the presence of different SNPs that were previously described and do not affect protein activity or function. CONCLUSIONS: Our data identify 3 subjects with FXII-HAE, 3 asymptomatic carriers of F12 mutation and 22 subjects with U-HAE. They indicate that FXII-HAE is less frequent in Italy than in other European countries. This uneven distribution probably results from the fact that p.Thr309Lys, the most common mutation related to FXII-HAE, derives from a common founder. In U-HAE subjects the screening of entire F12 excludes this gene as related to HAE; the underlying cause of this disease remains to be defined.
MONDAY
630