Shortened Activated Partial Thromboplastin Time May Help in Diagnosing Hereditary and Acquired Angioedema

Bork, Konrad; Witzke, Günther

doi:10.1159/000447695

Cited by 19 publications

(10 citation statements)

References 23 publications

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“…D-dimers, which are widely available, have been reported to be elevated in acute hereditary angioedema attacks (Reshef et al, 2015), but they are nonspecific and there are no formal analyses of sensitivity or specificity in this context. A shortened activated partial thromboplastin time, which is rapidly and widely available, may help to diagnose HAE-C1-INH and AAE-C1-INH when determination of C1-INH is not available (Bork and Witzke, 2016).…”

Section: Hereditary Angioedema With Normal C1-inhmentioning

confidence: 99%

Hereditary angioedema: an update on causes, manifestations and treatment

2019

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Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.

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Section: Hereditary Angioedema With Normal C1-inhmentioning

confidence: 99%

Hereditary angioedema: an update on causes, manifestations and treatment

2019

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“…Recently, Bork and Witzke [48] showed that a shortened activated partial thromboplastin time (aPTT) may help to diagnose C1-INH-HAE and C1-INH-AAE when other tests are not available. aPTT is a routine and easy screening test for the "intrinsic" and "common" pathways of blood coagulation [49].…”

Section: Diagnosismentioning

confidence: 99%

Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes

Bova

Feo

Parente

et al. 2018

Int Arch Allergy Immunol

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Recurrent angioedema (AE) without wheals is increasingly recognized as a clinical entity and a frequent cause of admission to the emergency room. The Hereditary Angioedema Working Group (HAWK) classification allowed the scientific community to go beyond the semantic confusion that dominated this topic for decades. This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. Recently, additional mechanisms have been involved in the AE pathogenesis, including the uncontrolled activation of factor XII, generation of vasoactive mediators that induce dysregulation of endothelial functions, and bidirectional interactions between mast cell-derived mediators and the plasma contact system. Thus, recurrent AE can be determined by multiple and concurrent mechanisms that may generate distinct clinical phenotypes of the disease. Frequency, severity, and the location of attacks are quite different from patient to patient and, even in the same patient, they may change throughout the course of life. The severity of the clinical phenotype strongly influences the burden of the disease and patients’ quality of life. Despite major advances in our understanding of recurrent AE, many unsolved questions remain, leaving several unmet needs for patients and caregivers. This review is focused on a description of different AE phenotypes and the concurrent mechanisms leading to their pathogenesis. A better definition of cellular and molecular pathways responsible for the distinct AE phenotypes may help to improve diagnosis and may lead to a personalized approach to prophylaxis and treatment of the disease.

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“…Moreover, serum C1q assessment aids the early differentiation between AAE and HAE [52] . Recent evidence suggests novel laboratory methods for the differential diagnosis of AAE and HAE when the determination of C1-INH is not yet available [56] . There is widespread agreement on therapeutic goals (i.e., to reduce mortality and morbidity, reduce the frequency of attacks, improve quality of life, and train patients in selfadministration) in C1-INH-related AE whereas no guidelines are available concerning the treatment of ACEI-RA and I-AAE [22,23,[57][58][59] .…”

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confidence: 99%

Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study

Triggianese

Guarino²,

Pellicano³

et al. 2017

Int Arch Allergy Immunol

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Background: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. Methods: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated. Descriptive statistics were analyzed by means of the Mann-Whitney U test. The Fisher exact test was used for group comparisons. Results: Patients were diagnosed with type 1 HAE (n = 14), type 2 HAE (n = 1), C1-INH-AAE (n = 8), ACEI-RA (n = 16), or I-AAE (n = 26). We included only patients with concomitant autoimmune diseases from the I-AAE group (n = 8, aut-I-AAE). Age at disease onset and at diagnosis was younger in type 1 HAE than in all the other groups. The diagnostic delay was longer in type 1 HAE than in ACEI-RA. C4 and C1q levels were lower in C1-INH-AAE than in type 1 HAE, ACEI-RA, and aut-I-AAE. Both HAE and C1-INH-AAE showed lower C1-INH antigen and function compared to the other groups. Peripheral attacks were more frequent in type 1 HAE, while airway, abdominal, and oral attacks were prevalent in C1-INH-AAE. Conclusion: Investigating the clinical and laboratory features of recurrent AE without wheals represents a major topic for facilitating early diagnosis and improving treatment strategies for this heterogeneous and misdiagnosed condition.

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Shortened Activated Partial Thromboplastin Time May Help in Diagnosing Hereditary and Acquired Angioedema

Cited by 19 publications

References 23 publications

Hereditary angioedema: an update on causes, manifestations and treatment

Hereditary angioedema: an update on causes, manifestations and treatment

Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes

Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study

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