Inhibitor of Human Plasma Kallikrein DX-88 for the Treatment of Acute Attack in a Family with Hereditary Angioedema.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4109-4109
Author(s):  
Ruby Anne E. Deveras ◽  
Francisco Bracho

Abstract Hereditary angioedema (HAE) is an autosomal dominant disorder that results in a deficiency of C1 esterase inhibitor (C1-INH), with a 1/10,000 to 1/50,000 prevalence worldwide (Nzeako 2001). Affected individuals manifest with recurrent attacks of intense, massive, localized non-pitting edema, without an allergic component, responding poorly to epinephrine and steroids. Prophylaxis include antifibrinolytic or androgens. A worrisome potentially fatal complication is laryngeal edema, which currently has no abortive therapy available. C1-INH is a serine protease inhibitor that also regulates kinin generation. Angioedema results from uncontrolled activation of the classical complement pathway generating vasoactive peptide or contact system activation release of bradykinin from high molecular weight kininogen. Knockout mouse data supports the role of bradykinin for the edema generation. However, other mediators may be involved. C1-INH gene disruption in mice showed increased vascular permability, which was reversed by intravenous C1-INH, bradykinin, and plasma kallikrein inhibitor (Hun 2002). Therefore, DX-88 (Dyax Corporation), a recombinant polypeptide inhibitor of plasma kallikrein, was used as an abortive agent for the treatment of acute attacks in HAE. We describe our institution’s experience in treating an HAE family, affected father with his two affected daughters, with DX-88 in a jointly conducted adult and pediatric hematology clinical trial. EDEMA I is an ascending four dose placebo controlled study to assess the efficacy and tolerability of DX-88 for acute attacks of HAE. Patients presented for treatment within 4 hours of a moderately severe acute attack and were observed for 8 hours. All three presented with abdominal attacks. The first daughter, on Oxandrin prophylaxis, presented with cramping, gnawing abdominal pain, associated nausea and rash. Subjective resolution of nausea, cramping and rash occured within 1 hour of treatment. The abdominal distention had partial resolution with continuing response up to 8 hours. The second daughter had more severe recurrent symptoms associated with her menses. She used imported C1-INH concentrate for acute attacks. She presented with mid to upper abdominal cramping and nausea. She had no resolution of symptoms with treatment. Her abdominal attack of 10/10 pain increased with nausea. She subsequent developed erythema marginatum.. The study was stopped 4 hours post dose. She was admitted for narcotic pain medication for symptomatic relief. The father, on Oxandrin prophylaxis, presented with abdominal attack, left hand and scrotal edema, and extensive erythema marginatum; reticular rash over the neck, back, arms, and shoulder. The attacks improved within 1 hour of treatment with significant resolution within 2 hours. The rash and abdominal symptoms resolved completely. The left hand and scrotal edema had partial resolution typical of his disease course, with continuing response up to 8 hours. HAE families have debilitating acute attacks despite prophylaxis. Replacement therapy with C1-INH concentrate is not commercially available in the United States. We treated an HAE family with DX-88 for acute attacks. Two had responses and the non responder was a potential placebo. The treatment was well tolerated. Longer follow up for safety and efficacy with ideal drug dosing are needed. Trial results are currently being analyzed. DX-88 is a promising, non plasma based, treatment for acute attacks of patients with HAE.

2015 ◽  
Vol 6 (1) ◽  
pp. ar.2015.6.0112 ◽  
Author(s):  
Anesu H. Williams ◽  
Timothy J. Craig

Hereditary angioedema (HAE) is a rare autosomal dominant disease that results from mutations in the C1-esterase inhibitor (C1-INH) gene. HAE is characterized by recurrent episodes of angioedema of the skin (face, extremities, genitalia, trunk), the gastrointestinal tract, and respiratory tract. Symptoms experienced can be debilitating, may impact quality of life, and can be life threatening. Preventing attacks particularly for patients undergoing procedures is critical. Patients with HAE may now treat acute attacks or prevent attacks with medications that have recently become available in the United States; however, these same medications can be used for perioperative management for patients undergoing medical, surgical, and dental procedures. Periprocedural planning is important for patients to reduce the incidence of acute attacks. Education is critical and increasing awareness of short-term prophylaxis options will allow providers to develop an appropriate action plan for their patients. The goal of this review is to increase awareness for HAE treating physicians, surgeons, anesthesia, and emergency room physicians by examining the available treatment options, researching the literature, and summarizing available data for periprocedural management. The availability of treatment options has increased over the past few years, expanding options for physicians and patients living with HAE and improve safety during the perioperative period and at the time of other procedures.


2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Konrad Bork ◽  
John T. Anderson ◽  
Teresa Caballero ◽  
Timothy Craig ◽  
Douglas T. Johnston ◽  
...  

Abstract Background Hereditary angioedema (HAE) is a rare disease characterized by unpredictable, potentially life-threatening attacks, resulting in significant physical and emotional burdens for patients and families. To optimize care for patients with HAE, an individualized management plan should be considered in partnership with the physician, requiring comprehensive assessment of the patient’s frequency and severity of attacks, disease burden, and therapeutic control. Although several guidelines and consensus papers have been published concerning the diagnosis and treatment of HAE, there has been limited specific clinical guidance on the assessment of disease burden and quality of life (QoL) in this patient population. Practical guidance is critical in supporting effective long-term clinical management of HAE and improving patient outcomes. The objective of this review is to provide evidence-based guidelines for an individualized assessment of disease burden and QoL in patients with HAE. Methods A consensus meeting was held on February 29, 2020, consisting of 9 HAE experts from the United States and Europe with extensive clinical experience in the treatment of HAE. Consensus statements were developed based on a preliminary literature review and discussions from the consensus meeting. Results Final statements reflect the consensus of the expert panel and include the assessment of attack severity, evaluation of disease burden, and long-term clinical management of HAE caused by C1-esterase inhibitor deficiency. Patient-reported outcome measures for assessing HAE attack severity and frequency are available and valuable tools; however, attack frequency and severity are insufficient markers of disease severity unless they are evaluated in the broader context of the effect on an individual patient’s QoL. QoL assessments should be individualized for each patient and minimally, they should address the interference of HAE with work, school, social, family, and physical activity, along with access to and burden of HAE treatment. Advances in HAE therapies offer the opportunity for comprehensive, individualized treatment plans, allowing patients to achieve minimal attack burden with reduced disease and treatment burden. Conclusion This consensus report builds on existing guidelines by expanding the assessment of disease burden and QoL measures for patients with HAE.


Author(s):  
Aude Belbézier ◽  
Mélanie Arnaud ◽  
Isabelle Boccon‐Gibod ◽  
Fabien Pelletier ◽  
Chloé McAvoy ◽  
...  

Symmetry ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 728
Author(s):  
Jessica McDonnell ◽  
Nicholas P Murray ◽  
Sungwoo Ahn ◽  
Stefan Clemens ◽  
Erik Everhart ◽  
...  

The majority of the population identifies as right-hand dominant, with a minority 10.6% identifying as left-hand dominant. Social factors may partially skew the distribution, but it remains that left-hand dominant individuals make up approximately 40 million people in the United States alone and yet, remain underrepresented in the motor control literature. Recent research has revealed behavioral and neurological differences between populations, therein overturning assumptions of a simple hemispheric flip in motor-related activations. The present work showed differentially adaptable motor programs between populations and found fundamental differences in methods of skill acquisition highlighting underlying neural strategies unique to each population. Difference maps and descriptive metrics of coherent activation patterns showed differences in how theta oscillations were utilized. The right-hand group relied on occipital parietal lobe connectivity for visual information integration necessary to inform the motor task, while the left-hand group relied on a more frontal lobe localized cognitive based approach. The findings provide insight into potential alternative methods of information integration and emphasize the importance for inclusion of the left-hand dominant population in the growing conceptualization of the brain promoting the generation of a more complete, stable, and accurate understanding of our complex biology.


Author(s):  
Daisuke Honda ◽  
Isao Ohsawa ◽  
Keiichi Iwanami ◽  
Hisaki Rinno ◽  
Yasuhiko Tomino ◽  
...  

AbstractHereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH) is a rare disease, which induces an acute attack of angioedema mediated by bradykinin. HAE-C1-INH can cause serious abdominal pain when severe edema develops in the gastrointestinal tract. However, because it takes a long time, 13.8 years on average in Japan, from the occurrence of the initial symptom to the diagnosis due to low awareness of the disease, undiagnosed HAE-C1-INH patients sometimes undergo unnecessary surgical procedures for severe abdominal pain. We herein present a 56-year-old patient with HAE-C1-INH, who underwent numerous abdominal operations. He frequently needed hospitalization with the administration of opioid due to severe abdominal pain. However, after he was accurately diagnosed with HAE-C1-INH at 55 years of age, he could start self-administration for an acute attack with icatibant, a selective bradykinin B2 receptor antagonist. Consequently, he did not need hospitalizing for ten months after the beginning of the treatment. A series of an accurate diagnosis and appropriate treatment for HAE-C1-INH improved his quality of life. Thus, HAE-C1-INH should be considered, when we meet patients with unidentified recurrent abdominal pain. This case highlights significance of an early diagnosis and appropriate treatment for HAE-C1-INH.


2021 ◽  
Vol 42 (3) ◽  
pp. S11-S16 ◽  
Author(s):  
Timothy J. Craig ◽  
Aleena Banerji ◽  
Marc A. Riedl ◽  
Jessica M. Best ◽  
Jinky Rosselli ◽  
...  

Hereditary angioedema (HAE) is a rare genetic disease that results in recurrent, debilitating, and potentially life-threatening swelling episodes in the extremities, genitals, gastrointestinal tract, and upper airway. Patients can experience significant burdens related to their disease. Informal or familial caregivers often support patients with HAE and likely share in the disease-related burdens, although there are limited HAE caregiver‐focused reports in the scientific literature. In the United States, we conducted an online survey of adults caring for an individual with HAE to better understand their experiences with the disease and identify psychosocial impacts of providing care for a patient with HAE. Thirty caregivers provided responses to the survey. Most caregivers were family members of the care recipient and many had HAE themselves. Caregivers reported participating in a number of medical-related tasks and experiencing some burdens as a result of caring for a person with HAE.


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