Hereditary angioedema

Moore, Gregory P.; Hurley, William T.; Pace, Steven

doi:10.1016/s0196-0644(88)80450-5

Cited by 57 publications

(43 citation statements)

References 20 publications

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“…Angioedema is characterized by localized temporary swelling, which can affect all layers of the skin as well as the walls of hollow viscera, such as the oropharynx, respiratory system, or gastrointestinal tract (2). Respiratory system edema can result in serious complications, such as laryngeal edema, and hence, 30% of HAE patients die due to asphyxiation (3). Gastrointestinal tract edema might manifest as severe acute onset abdominal pain or as chronic recurrent abdominal pain of moderate severity (4).…”

Section: Introductionmentioning

confidence: 99%

A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks

et al. 2011

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A 44-year-old Japanese woman was diagnosed with type 1 hereditary angioedema (HAE) at the age of 30. In March 2007, she began suffering from severe abdominal pain due to intestinal edema. After treatment with C1-INH concentrate, her symptoms disappeared. However, during the subsequent three years, the frequency of the attacks increased continuously, and C1-INH concentrate was necessary for treatment of every attack. The increase in the number of attacks might have been due to the frequent injection of C1-INH concentrate or the deterioration of her disease course. In a genetic investigation, the patient was found to have a novel mutation in the C1-INH gene.

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Section: Introductionmentioning

confidence: 99%

A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks

et al. 2011

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“…HAE may account for 15,000 to 30,000 emergency department visits annually in the United States alone. 31,32 Laryngeal edema presents the greatest risk to patients, and approximately 50% of patients with HAE have at least 1 laryngeal attack in their lifetime. 9 In the past, fatality from asphyxiation during a laryngeal attack was reported in approximately 30% of patients with HAE.…”

Section: Consequencesmentioning

confidence: 99%

“…2,33 Patients with HAE are often misdiagnosed, resulting in unnecessary medical and surgical interventions. 22,31,34 Abdominal symptoms may mimic an acute appendicitis or other forms of acute abdomen and lead to unnecessary abdominal surgery. 2,8,22 According to 1 estimate, 45% of patients presenting to an emergency department with an HAE attack are subsequently hospitalized.…”

Section: Consequencesmentioning

confidence: 99%

Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies

Gower

Busse

Aygören‐Pürsün

et al. 2011

World Allergy Organization Journal

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Abstract:Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease resulting from a mutation in the C1-inhibitor gene. HAE is characterized by recurrent attacks of intense, massive, localized subcutaneous edema involving the extremities, genitalia, face, or trunk, or submucosal edema of upper airway or bowels. These symptoms may be disabling, have a dramatic impact on quality of life, and can be life-threatening when affecting the upper airways. Because the manifestations and severity of HAE are highly variable and unpredictable, patients need individualized care to reduce the burden of HAE on daily life. Although effective therapy for the treatment of HAE attacks has been available in many countries for more than 30 years, until recently, there were no agents approved in the United States to treat HAE acutely. Therefore, prophylactic therapy is an integral part of HAE treatment in the United States and for selected patients worldwide. Routine long-term prophylaxis with either attenuated androgens or C1-esterase inhibitor has been shown to reduce the frequency and severity of HAE attacks. Therapy with attenuated androgens, a mainstay of treatment in the past, has been marked by concern about potential adverse effects. C1-esterase inhibitor works directly on the complement and contact plasma cascades to reduce bradykinin release, which is the primary pathologic mechanism in HAE. Different approaches to long-term prophylactic therapy can be used to successfully manage HAE when tailored to meet the needs of the individual patient.

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“…HAE may account for 15,000 to 30,000 emergency department visits annually in the United States alone[31,32]. Laryngeal edema presents the greatest risk to patients, and approximately 50% of patients with HAE have at least 1 laryngeal attack in their lifetime[9].…”

Section: Consequencesmentioning

confidence: 99%

“…Fatal laryngeal attacks still may occur, particularly in the absence of a proper diagnosis or in patients who do not receive appropriate or timely treatment[2,33]. Patients with HAE are often misdiagnosed, resulting in unnecessary medical and surgical interventions[22,31,34]. Abdominal symptoms may mimic an acute appendicitis or other forms of acute abdomen and lead to unnecessary abdominal surgery[2,8,22].…”

Section: Consequencesmentioning

confidence: 99%

Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies

Gower¹,

Busse²,

Aygören‐Pürsün³

et al. 2011

World Allergy Organization Journal

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Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease resulting from a mutation in the C1-inhibitor gene. HAE is characterized by recurrent attacks of intense, massive, localized subcutaneous edema involving the extremities, genitalia, face, or trunk, or submucosal edema of upper airway or bowels. These symptoms may be disabling, have a dramatic impact on quality of life, and can be life-threatening when affecting the upper airways. Because the manifestations and severity of HAE are highly variable and unpredictable, patients need individualized care to reduce the burden of HAE on daily life. Although effective therapy for the treatment of HAE attacks has been available in many countries for more than 30 years, until recently, there were no agents approved in the United States to treat HAE acutely. Therefore, prophylactic therapy is an integral part of HAE treatment in the United States and for selected patients worldwide. Routine long-term prophylaxis with either attenuated androgens or C1-esterase inhibitor has been shown to reduce the frequency and severity of HAE attacks. Therapy with attenuated androgens, a mainstay of treatment in the past, has been marked by concern about potential adverse effects. C1-esterase inhibitor works directly on the complement and contact plasma cascades to reduce bradykinin release, which is the primary pathologic mechanism in HAE. Different approaches to long-term prophylactic therapy can be used to successfully manage HAE when tailored to meet the needs of the individual patient.

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Hereditary angioedema

Cited by 57 publications

References 20 publications

A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks

A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks

Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies

Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies

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