The Challenges in the Follow-Up and Treatment of Brazilian Children with Hereditary Angioedema

2021 ◽  
pp. 1-7
Author(s):  
Joanna Araújo-Simões ◽  
Aline Gisele Pena Boanova ◽  
Rosemeire Navickas Constantino-Silva ◽  
Nyla Thyara Melo Lobão Fragnan ◽  
Jorge Andrade Pinto ◽  
...  
Keyword(s):  
Family History ◽  
Tranexamic Acid ◽  
Hereditary Angioedema ◽  
Pediatric Patients ◽  
Clinical Manifestations ◽  
Fresh Frozen Plasma ◽  
Child Therapy ◽  
Strong Impact ◽  
Upper Airways ◽  
Fresh Frozen

<b><i>Introduction:</i></b> Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis’s delay has a strong impact on the patient’s quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil. <b><i>Methods:</i></b> Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH. <b><i>Results:</i></b> A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients. <b><i>Conclusions:</i></b> This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy.

Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States

2020 ◽  
Author(s):  
Raffi Tachdjian ◽  
Karin Johnson ◽  
Deborah Casso ◽  
Susan Oliveria ◽  
Giovanna Devercelli ◽  
...  
Keyword(s):  
Cohort Study ◽  
Real World ◽  
Hereditary Angioedema ◽  
Pediatric Patients ◽  
Aminocaproic Acid ◽  
Patient Characteristics ◽  
The United States ◽  
Fresh Frozen Plasma ◽  
Administrative Claims ◽  
Fresh Frozen

Background: There is limited real-world evidence on hereditary angioedema (HAE) patient characteristics and health-careresource utilization (HCRU); in addition, pediatric patients have been described in small cohorts.Objective: To describe patient characteristics, treatment patterns, and HCRU among adult and pediatric patients treatedfor HAE in a large U.S. cohort.Methods: This retrospective cohort study used an administrative claims data base (January 2006 to September 2015).Eligible patients with either greater than or equal to one pharmacy claim for HAE-indicated therapies (C1 inhibitors, ecallantide, icatibant) or gtaer than or equal to two medical claims with codes associated with HAE (per medical billing codes), and greater than or equal to one claim for androgens, fresh frozen plasma, tranexamic acid, or « -aminocaproic acid formed a “treated cohort.” Three nonexclusive treated cohorts were assessed: overall, pediatric, and HCRU (greater than or equal to 2 years of continuous enrollment during 2010–2015).Results: Overall, 1429 patients received treatment (mean =/- 6 standard deviation [SD] age, 38.8 +/- 15.7 years; 62.4% femalepatients; mean +/- SD Charlson Comorbidity Index of 1.4 +/- 2.4). Common comorbidities were allergy or anaphylaxis (51.4%)and anxiety or depression (35.8%). Diagnoses indicative of HAE attacks included swelling and/or angioedema (78.5%), abdominalpain (55.6%), and asphyxiation (27.2%). Use of HAE-indicated medication rose between 2006 and 2015 to 81.8%, whereas androgen use declined (from 91.5% to 24.9%). Similar trends were observed in the pediatric treated cohort (n = 143). In the HCRU treated cohort (n = 538), HAE-related claims for emergency department and inpatient admissions were observed for 36.6% and 22.3% of patients, respectively.Conclusion: In a large U.S. cohort of adult and pediatric patients who received treatments indicated or used for HAE,common comorbidities and trends in resource use denoted the substantial burden of attacks, which reflected a continued needthat recently approved long-term prophylactic treatments may help to address

Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States

2020 ◽  
Vol 41 (3) ◽  
pp. 172-182 ◽  
Author(s):  
Raffi Tachdjian ◽  
Karin E. Johnson ◽  
Deborah Casso ◽  
Susan A. Oliveria ◽  
Giovanna Devercelli ◽  
...  
Keyword(s):  
Cohort Study ◽  
Real World ◽  
Hereditary Angioedema ◽  
Pediatric Patients ◽  
Aminocaproic Acid ◽  
Patient Characteristics ◽  
The United States ◽  
Fresh Frozen Plasma ◽  
Administrative Claims ◽  
Fresh Frozen

Background: There is limited real-world evidence on hereditary angioedema (HAE) patient characteristics and health-care resource utilization (HCRU); in addition, pediatric patients have been described in small cohorts. Objective: To describe patient characteristics, treatment patterns, and HCRU among adult and pediatric patients treated for HAE in a large U.S. cohort. Methods: This retrospective cohort study used an administrative claims data base (January 2006 to September 2015). Eligible patients with either ≥1 pharmacy claim for HAE-indicated therapies (C1 inhibitors, ecallantide, icatibant) or ≥2 medical claims with codes associated with HAE (per medical billing codes), and ≥1 claim for androgens, fresh frozen plasma, tranexamic acid, or ε-aminocaproic acid formed a “treated cohort.” Three nonexclusive treated cohorts were assessed: overall, pediatric, and HCRU (≥2 years of continuous enrollment during 2010‐2015). Results: Overall, 1429 patients received treatment (mean ± standard deviation [SD] age, 38.8 ±15.7 years; 62.4% female patients; mean ± SD Charlson Comorbidity Index of 1.4 ± 2.4). Common comorbidities were allergy or anaphylaxis (51.4%) and anxiety or depression (35.8%). Diagnoses indicative of HAE attacks included swelling and/or angioedema (78.5%), abdominal pain (55.6%), and asphyxiation (27.2%). Use of HAE-indicated medication rose between 2006 and 2015 to 81.8%, whereas androgen use declined (from 91.5% to 24.9%). Similar trends were observed in the pediatric treated cohort (n = 143). In the HCRU treated cohort (n = 538), HAE-related claims for emergency department and inpatient admissions were observed for 36.6% and 22.3% of patients, respectively. Conclusion: In a large U.S. cohort of adult and pediatric patients who received treatments indicated or used for HAE, common comorbidities and trends in resource use denoted the substantial burden of attacks, which reflected a continued need that recently approved long-term prophylactic treatments may help to address.

Short-term prophylaxis for children and adolescents with hereditary angioedema

2021 ◽  
Vol 42 (3) ◽  
pp. 205-213
Author(s):  
Oyindamola Ajewole ◽  
Mosopefoluwa Lanlokun ◽  
Stevenson Dimanche ◽  
Timothy Craig
Keyword(s):  
Tranexamic Acid ◽  
Hereditary Angioedema ◽  
Upper Airway ◽  
Fresh Frozen Plasma ◽  
Published Data ◽  
C1 Inhibitor ◽  
Short Term ◽  
Fresh Frozen ◽  
Short Term Prophylaxis ◽  
Frozen Plasma

Background: Hereditary Angioedema (HAE) is a rare, autosomal dominant, life threatening disease, secondary to the deficiency of C1-inhibitor, dysfunction of C1-inhibitor or inadequate control of the contact pathway. Presentation includes recurrent swelling of the skin, upper airway and the abdomen. Trauma can precipitate attacks, which in the airway can lead to asphyxia. For this reason, short term prophylaxis (STP) may be indicated before medical, surgical and dental procedures. The goal of the manuscript is to review short term prophylaxis for children of all ages. Methods: We searched the following search words: children, pediatric, adolescent, plasma derived C1-inhibitor, recombinant C1-inhibitor, surgery, medical procedures, prophylaxis, dental, Hereditary Angioedema, tranexamic acid, androgens, fresh frozen plasma, short term prophylaxis, lanadelumab, subcutaneous C1-inhibitor in Google Scholar and in PubMed to develop our results. Results: STP should be discussed at every visit. Plans should be individualized based upon the procedure, therapies available and shared decision making with patient/parent. For high risk procedures plasma derived C1-inhibitor should be used at 20 units/kg just prior to the procedure. Alternative agents for STP include recombinant C1-inhibitor, fresh frozen plasma, androgens, or tranexamic acid. In all cases, with or without the use of STP, 2 doses of on-demand therapy should be available in case of an attack. Conclusion: Herein, we review the published data on STP for pediatric patients with HAE and discuss first-line options, and off label use of medications, as well as review the guidelines pertaining to short term prophylaxis.

HEREDITARY ANGIOEDEMA – A PROBLEM AT THE INTERSECTION OF IMMUNOLOGY AND ALLERGOLOGY: ANALYSIS OF LITERATURE DATA AND DESCRIPTION OF A SERIES OF 34 CASES

2021 ◽  
Vol 100 (2) ◽  
pp. 49-57
Author(s):  
M.N. Guseva ◽  
◽  
E.I. Zinina ◽  
E.N. Suspitsyn ◽  
M.M. Kostik ◽  
...  
Keyword(s):  
Respiratory Tract ◽  
Hereditary Angioedema ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Upper Respiratory Tract ◽  
Upper Airways ◽  
Peripheral Edema ◽  
Dominant Disease ◽  
Characteristic Features ◽  
Head Neck

Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by isolated recurrent angioedema (AE) of various localizations: skin, the submucosa in the gastrointestinale tract, the respiratory tract. The characteristic features of edema in HAE are the absence of itching, skin flushing, accompanying urticaria, as well as the absence of pronounced effect of systemic corticosteroid therapy, systemic antihistamines therapy and adrenaline. The aim of our study was to present a descriptive characteristics of the group of patients with HAE and to access efficacy and safety of treatment. Materials and methods: the retrospective multicenter continuous nonrandomized uncontrolled study included data on 34 patients: 19 men (56%) and 15 women (44%) with HAE. The diagnosis of HAE was based on clinical and laboratorial data, according to the clinical guidelines of the Russian Association of allergologists and clinical immunologists on HAE (2014). Results The age range of patients at the time of inclusion in the study was 5–82 years, median – 38,8 (20,6; 46,9) years. Median age of first HAE episode was 12,5 (5,8; 16,3) years, ranged from 2 to 40, 22/28 (79%) of the patients manifested before 18 years. HAE was diagnosed at the median age of 30 years (17,5; 44,8) years, in 14,0 (9,0; 25,0) years after onset of the clinical manifestations. Most of the observations described have a positive family history of HAE (91%), in total 9 families were described. In 67% of families the disease manifested itself in two generations and in 33% of families – in three generations. At the onset of HAE peripheral edema was in 29/31 (94%) of the patients, and 22/31 (71%) had edema confined to the distal extremities. 7/31 (29%) patients had peripheral edema combined with edema of other locations. Abdominal attacks were in 6/31 (19%), head, neck and upper airways edema were in 7/31 (23%). The frequency of swelling of head, neck, upper respiratory tract increased statistically significantly from 23% (7/31) to 35% (7/20, p=0,003). 24 patients have recieved Icatibant treatment. No deaths were recorded against the background of this treatment. Conclusions HAE is diagnosed with significant time delays. Icatibant treatment is safe and effective.

scholarly journals Hereditary angioedema caused by C1-esterase inhibitor deficiency: a case report with literature-based analysis

2019 ◽  
Vol 8 (2) ◽  
pp. 741
Author(s):  
Sufia Athar ◽  
Noureddine Korichi ◽  
Yousra Shehada Siam
Keyword(s):  
Case Report ◽  
Hereditary Angioedema ◽  
Fresh Frozen Plasma ◽  
Pregnancy And Childbirth ◽  
C1 Esterase Inhibitor ◽  
Close Observation ◽  
Fresh Frozen ◽  
Dominant Disease ◽  
Frozen Plasma ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease caused by a mutation in the C1-inhibitor gene. It is a rare disease that is often worsened during pregnancy and childbirth. HAE, though uncommon but if untreated it may lead to maternal death.  The case report presents the successful management of a 24 years old, G2P1, with hereditary angioedema caused by C1-esterase inhibitor deficiency. This patient was managed with a multidisciplinary approach by an obstetrician, an immunologist, an anaesthesiologist and a pediatrician. She had an uneventful antenatal period, labor was induced. She had precipitate delivery and soon after delivery had a flare up of the disease. It was successfully managed with fresh frozen plasma and close observation. 

ALBUMIN VERSUS FRESH FROZEN PLASMA IN MANAGING DIURETIC RESISTANT EDEMA IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Vishwajeet Singh ◽  
P K Berwal ◽  
T C Saini ◽  
Narender Mishra
Keyword(s):  
Nephrotic Syndrome ◽  
Pediatric Patients ◽  
Idiopathic Nephrotic Syndrome ◽  
Dry Weight ◽  
Fresh Frozen Plasma ◽  
Fresh Frozen ◽  
Double Number ◽  
Group A ◽  
Group B ◽  
Frozen Plasma

Background: This study was carried out to compare the efficacy and outcome of albumin with fresh frozen plasma (FFP) in the treatment of diuretic resistant edema in nephrotic syndrome Methods: Sixty patients with idiopathic NS were enrolled in this prospective analytic study. Patients with moderate to severe edema with serum albumin <1.5 gm/dl were given albumin and FFP dividing into two groups. Group-A, received intravenous albumin- 1 gm/kg/day and Group-B intravenous FFP 15ml/kg/day. Total number of albumin and FFP infusion were determined by edema reduction. Results: Diagnosis of NS and biochemical parameters were same in both groups. Dry weight was achieved in Group-A in 6.62± 3.15 days and in Group-B 6.65 ± 3.18 days. In GroupA the number of albumin infusion required was 1.42±0.62 and Group-B FFP infusion required was 3.11± 1.05 (p=0.0001). No significant complications were observed in both the groups. Conclusion: FFP cost half than albumin and same duration required to reduce edema but with double number of infusion and it is safe in pediatric patients with NS presenting with moderate to severe edema. Keywords: NS, Oedema, FFP, Albumin

scholarly journals Review of the Manitoba cohort of patients with hereditary angioedema with normal C1 inhibitor

2019 ◽  
Vol 15 (1) ◽  
Author(s):  
Lundy McKibbin ◽  
Colin Barber ◽  
Chrystyna Kalicinsky ◽  
Richard Warrington
Keyword(s):  
Family History ◽  
Tranexamic Acid ◽  
Hereditary Angioedema ◽  
Acute Treatment ◽  
Chart Review ◽  
Positive Family History ◽  
Retrospective Chart Review ◽  
Factor Xii ◽  
C1 Inhibitor ◽  
And Function

Abstract Background Hereditary angioedema with normal C1 inhibitor (HAE-nC1 INH) is a rare, underappreciated condition characterized by recurrent subcutaneous angioedema. The underlying pathophysiology and diagnostic criteria continues to evolve. There is a significant overlap between HAE-nC1 INH and idiopathic nonhistaminergic angioedema, ultimately this may be found to be the same condition. Characterization of cohorts suspected to have either of these conditions is warranted to help refine diagnosis, pathophysiology, and treatment response. Methods A retrospective chart review of 418 patients diagnosed with angioedema was conducted. The following inclusion criteria was used: lack of response to antihistamines, steroids, and epinephrine; normal C4, C1 inhibitor (C1 INH) level and function; lack of urticaria or pruritus; occurrence without offending drugs; and positive family history. Enzyme immunoassays for C1 INH function were performed at the Mayo Clinic. Charts meeting these criteria were reviewed for frequency and type of episodes as well as use and response to therapies. Results 6 patients met the above criteria. 3 of these completed genetic testing, none were found to have factor XII abnormalities. None had angiopoietin 1 or plasminogen gene sequencing. 5 of 6 patients were successfully treated with C1 INH or tranexamic acid for acute treatment of attacks (4 with C1 INH and 1 with tranexamic acid). 4 patients have used Icatibant with good response (typically under 40 min for near full recovery); of these, 3 required Icatibant as acute treatment after other therapies (C1 inhibitor and tranexamic acid) were ineffective. There were 9 patients who otherwise met criteria, but due to a lack of family history were classified as having idiopathic non-histaminergic angioedema. Conclusions This retrospective chart review found 6 HAE-nC1 INH patients in Manitoba. 1 responded to tranexamic acid and not C1 INH, 4 typically responded to C1 INH, and 1 responded exclusively to Icatibant. All patients—4 total—who used Icatibant responded; of these 4 patients, 3 required Icatibant after other therapies had failed.

scholarly journals Fresh frozen plasma for on-demand hereditary angioedema treatment in South Africa and Iran

2019 ◽  
Vol 12 (9) ◽  
pp. 100049 ◽  
Author(s):  
Nicole Wentzel ◽  
Angelica Panieri ◽  
Maryam Ayazi ◽  
Sipho Duncan Ntshalintshali ◽  
Zahra Pourpak ◽  
...  
Keyword(s):  
South Africa ◽  
Hereditary Angioedema ◽  
Fresh Frozen Plasma ◽  
On Demand ◽  
Fresh Frozen ◽  
Frozen Plasma

scholarly journals Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Tamer Othman ◽  
Ayman Abdelkarim ◽  
Karen Huynh ◽  
An Uche ◽  
Jennifer Lee
Keyword(s):  
Cardiac Tamponade ◽  
Clinical Manifestations ◽  
Missense Variant ◽  
Fresh Frozen Plasma ◽  
Factor X ◽  
Pericardial Window ◽  
Extensive Experience ◽  
Management Guidelines ◽  
Factor X Deficiency ◽  
Fresh Frozen

Factor X deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. The symptoms of this disorder can occur at any age, although most severe cases appear in childhood. The rarity of this condition has not allowed for the establishment of evidence‐based management guidelines, and thus, individuals afflicted with factor X deficiency are treated based on limited literature and the opinions of clinicians with extensive experience. In this case report, we discuss a unique presentation of a 38-year-old male who was found to have cardiac tamponade as a result of his newly diagnosed inherited moderate factor X deficiency. This was discovered by obtaining a factor X activity assay and confirmed with genetic testing which demonstrated a missense variant on the factor X gene on chromosome 13. His management involved correction of his factor X deficiency with fresh frozen plasma, a pericardiocentesis, and placement of a pericardial window. He has been asymptomatic and without hemorrhagic episodes for the 10 months following his discharge.

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