Materiały źródłowe

• #1 Angioedema Workup: Approach Considerations, Laboratory Studies, Allergy Testing

  https://emedicine.medscape.com/article/135208-workup

  The great majority of cases of angioedema can be diagnosed on the basis of the history and physical examination alone; extensive diagnostic workup and laboratory testing are rarely indicated. […] Most mild cases of angioedema do not require any laboratory tests. Screening for suspected allergies to food, stinging insects, latex, and antibiotics can be performed. […] For angioedema without urticaria (especially those with recurrent episodes), diagnostic tests should include the following: C4 level, C1 esterase inhibitor (C1-INH) quantitative and functional measurements, C1q level. […] These studies will help to establish or rule out C1-INH deficiency associated angioedema, either hereditary or acquired. […] The Joint Taskforce on Practice Parameters 2013 update of the 2000 angioedema practice parameters include diagnostic testing to differentiate among subtypes of angioedema without urticaria.

• #1 Angioedema: Causes, Symptoms, Types & Treatments

  https://my.clevelandclinic.org/health/diseases/22632-angioedema

  It may be difficult to tell what kind of angioedema you have. Your provider will begin with a physical examination, though in many cases the swelling will be easy to see. Theyll ask you questions about: […] In addition to the questions, your provider may order blood or skin tests for allergies or blood tests to find out if you have angioedema related to the C1 inhibitor protein. […] Treating angioedema depends on what kind of angioedema you have. For severe allergic reactions, youll often have injectable epinephrine to carry. You should administer this while calling 911. […] For allergic angioedema, your provider may suggest antihistamines or steroids. You may get them either in oral (pill or liquid) or intravenous (in the vein) form. […] If you have hereditary, idiopathic or acquired C1 inhibitor deficiency angioedema, youll probably be referred to a specialist. Some medications that treat or prevent heredity angioedema include:

• #1 Angioedema | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/skin-hair-and-nails/angioedema/

  Your doctor can diagnose angioedema by examining the affected skin and discussing symptoms. […] However, further tests, such as blood tests or allergy tests, may be required to determine the type of angioedema. […] Idiopathic angioedema is only diagnosed if no cause can be found. […] Angioedema is usually diagnosed by your doctor examining the affected skin and discussing your symptoms. […] It can be difficult to find the exact cause and identify which type of angioedema you have. There is no single test available, but you may have allergy tests or blood tests if a specific cause is suspected. […] Hereditary angioedema can be diagnosed using a blood test to check the level of proteins regulated by the C1-inh gene. A very low level would suggest hereditary angioedema. […] Idiopathic angioedema is usually confirmed by a diagnosis of exclusion. This means a diagnosis of idiopathic angioedema can only be made after all the above tests have been carried out and a cause has not been found.

• #1

  https://link.springer.com/article/10.1007/s12325-022-02401-0

  Symptom onset is another key part of diagnosing HAE and providers should ask all patients with a suspected HAE diagnosis about preceding events prior to the increase in symptoms which may clue providers of a non-HAE cause such as drug-induced causes. In the case of HAE, some attacks may have a preceding trigger, but often many attacks have no trigger at all. While triggers vary for each patient, common triggers can include trauma, medical procedures, stress, oral contraceptives (estrogen), infectious processes, and ACE inhibitors. Additionally, patients with HAE have different disease response levels to the same triggers. […] When constructing a differential diagnosis list, urticaria is an important finding to consider for the exclusion of an HAE diagnosis. Patients presenting with an HAE flare should not have urticaria on physical exam and the lesions present should not indicate an infectious process (warm or painful). In addition to the lesions requiring no evidence of an infectious process, the patient should also be fever free for a diagnosis of acute HAE. One clinical test that can help aid in either making or excluding a diagnosis of HAE is the administration of an ACE inhibitor. If a patient is suspected to have Hereditary Angioedema, their symptoms should increase in intensity with an ACE inhibitor. If the patient does not show a change in the disease process with the administration of the ACE inhibitor, the diagnosis of HAE is not as likely.

• #1 Hereditary Angioedema Workup: Approach Considerations, Complement and Genetic Testing, Imaging Studies

  https://emedicine.medscape.com/article/135604-workup

  Patients with hereditary angioedema (HAE) usually have normal results on most routine laboratory tests. An increased erythrocyte sedimentation rate or eosinophilia is not usually found. If either is present, the clinician should consider a coexisting or different diagnosis. […] The most reliable and cost-effective screening test for HAE is a serum C4 level. The C4 concentration is almost always decreased during attacks and is usually low between attacks. If the C4 level is in the normal range but suspicion for angioedema is high, the test should be repeated. […] The three types of hereditary angioedema (HAE) can be differentiated with complement testing and, in the case of HAE with normal C1 inhibitor levels, genetic testing. […] During attacks of gastrointestinal edema, abdominal radiographs may demonstrate features of ileus in hereditary angioedema (HAE) patients. Abdominal ultrasonography or computed tomography may show edematous thickening of the intestinal wall, a fluid layer around the bowel, and large amounts of free peritoneal fluid. […] Histologically, the angioedema of hereditary angioedema (HAE) is indistinguishable from other types of angioedema. Typically, perivascular mononuclear cell infiltrate and dermal edema similar to that seen with chronic urticaria or angioedema of other types are observed.

• #1

  https://link.springer.com/article/10.1007/s12325-022-02401-0

  In a subset of HAE, clinical findings are the most predictive and diagnostic of HAE. The subset of HAE relying the most on a patients clinical presentation is HAE with normal C1-INH levels. In this subset of HAE, patients will have identifiable clinical symptoms, normal lab values (including C1-INH), and either an F12 mutation of a positive family history and a known treatment failure to chronic high-dose antihistamine therapy. The combination of these different factors can help establish a diagnosis of HAE with normal C1-INH levels through clinical presentation. […] HAE can be detected with laboratory testing as a deficiency of C1 esterase inhibitor, leading to an abnormally high bradykinin level. Patients with HAE can also be detected through low C4, C1-INH protein, and C1-INH functional levels. Low C1-INH levels occur due to a deficiency without the SERPING1 gene. If an HAE patient presents with a low circulating C1-INH level, they likely have type 1 HAE, whereas a normal circulating C1-INH level indicates type 2 HAE.

• #1 Angioedema: An Overview and Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6188378/

  Angioedema is an increasing cause of hospitalizations in the United States. […] Hereditary angioedema is a rare form of angioedema that can be diagnosed by screening with a C4 level. […] In order to determine the etiology of angioedema, a detailed medical history must be taken with particular attention to identifying possible triggers, as well as the medication history and family history. […] Initial screening should include a C4 level which will be depressed both during as well as between attacks. […] If a C4 level is found to be low or clinical suspicion for hereditary or acquired angioedema is very high, follow-up testing of the C1 INH level and function is warranted. […] In type 1 hereditary angioedema and acquired angioedema, the C1 INH level will be low, typically 30% of normal.

• #1 Diagnosis and investigations – HAE UK

  https://www.haeuk.org/what-is-hae/diagnosis-and-investigations/

  Diagnosis […] Pointers to a diagnosis of hereditary angioedema (HAE) can be: Family history other family members have had similar symptoms […] Recurrent episodes of swelling (without hives) lasting more than 24 hours and unresponsive to antihistamines […] Recurrent unexplained abdominal pain […] Symptoms starting in childhood and worsening in adolescence. […] For diagnosis of HAE types I and II, Serum C4 levels usually low in untreated HAE. If C4 is low, measure C1 INH level and function. If C4 is normal but HAE is suspected, measure C1 INH levels and function, and if normal, repeat C4 levels during an attack and assess C1 INH level and function if abnormal. Genetic testing may be done in some cases where there is doubt. […] HAE with Normal C1 Inhibitor: C4 and C1 INH levels are normal. Diagnosis is from the clinical picture. Kininogenase activity measurement and genetic analysis for F12 gene mutation may be considered.

• #1 Angioedema: An Overview and Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6188378/

  A C1q level will differentiate between these two types of angioedema, as the C1q level will only be low in acquired angioedema but not type 1 HAE. […] Management of HAE may include both short term and long term prophylaxis as well as treatment of acute episodes. […] Two forms of C1 inhibitor concentrate and one kallikrein inhibitor are now available for treatment of hereditary angioedema.

• #1 Angioedema Workup: Approach Considerations, Laboratory Studies, Allergy Testing

  https://emedicine.medscape.com/article/135208-workup

  C1-INH-HAE types I and II are characterized by low levels of C1-INH or elevated levels of dysfunctional C1-INH, as detected by an immune assay. […] Screening laboratory studies have limited value in most cases. […] If the initial laboratory tests yield abnormal results or if a specific medical condition is suspected, additional tests may be needed. […] When the CH50 or C4 level is low, additional tests for C1-INH function and C1q level should be considered. […] The diagnosis of IgE-mediated angioedema is usually made on the basis of the history. […] Allergy testing will be advisable, especially those with a history resembling type I hypersensitivity. […] Most angioedema patients do not need any imaging studies. […] However, when internal organ involvement is suspected, during acute attacks, the following studies can be performed: Plain abdominal radiography, Abdominal ultrasonography, CT of the abdomen, Radiography of the chest, Radiography of cervical soft tissue.

• #1 US Hereditary Angioedema Association

  https://www.haea.org/pages/p/what_is_hae

  Hereditary Angioedema, or HAE, is a very rare and potentially life-threatening genetic condition that involves recurrent attacks of severe swelling (angioedema) in various parts of the body, including the hands, feet, genitals, stomach, face and/or throat. […] Because HAE is so rare, it can take as long as a decade to obtain an accurate diagnosis after symptoms are first experienced. […] Proper diagnosis is crucial for successful treatment and management of HAE. Laboratory analysis of blood samples, or genetic samples, are required to establish an HAE diagnosis. There are three specific blood tests used to confirm Hereditary Angioedema Type I or II: 1. C1-Inhibitor quantitative (antigenic) 2. C1-Inhibitor functional 3. C4 Genetic testing for HAE with Normal C1-Inhibitor can determine if there is a defect in one of the other three genes that have been shown to also cause HAE.

• #1

  https://link.springer.com/article/10.1007/s12325-022-02401-0

  Additionally, laboratory tests to monitor C4 levels should be done with suspected HAE but only in episodes of an acute attack. Randomly checking an HAE patients C4 level alone only has a sensitivity of 80%. D-dimer level monitoring may also be useful in diagnosing an acute HAE attack as the value may rise in this setting. In addition to monitoring C4 and D-dimer levels, a physician may choose to check C1 and/or C3 levels. If any lab values are less than or equal to 50% of the normal values, labs should be repeated in 1-3 months to ensure values are accurate and not related to a more acute illness. It is recommended that to make a diagnosis of HAE, the patient should have both clinical symptoms and positive laboratory findings. […] Genetic testing is another test that can diagnose HAE, but the limitation presented with this testing is predicting disease progression. A positive result on genetic screening for HAE cannot indicate a patients future symptomology or severity since the same genotypic variation can present differently in multiple patients.

• #1 How Angioedema Is Diagnosed

  https://www.verywellhealth.com/how-angioedema-is-diagnosed-4163523

  Commonly used tests in the evaluation of angioedema include: Allergy Test: There are a variety of allergy tests. […] Blood Test: Blood tests can detect elevated levels of immunological activity. […] Sometimes, there is no allergen identified and angioedema may be a diagnosis of exclusion after other causes of the symptoms have been ruled out. […] A blood and/or genetic test can help identify non-histaminergic angioedema. However, it is more common to have the blood test. […] Non-histaminergic angioedema can be inherited directly from parents with an autosomal dominant pattern, which means that if a person has the gene for this condition, symptoms of the disease will develop. […] Imaging is not normally helpful in diagnosing angioedema. […] There are a few other conditions that may produce symptoms similar to those of angioedema.

• #1 Angioedema in the emergency department: a practical guide to differential diagnosis and management | International Journal of Emergency Medicine | Full Text

  https://intjem.biomedcentral.com/articles/10.1186/s12245-017-0141-z

  Unfortunately, no validated, rapid, point-of-care diagnostic test is available to differentiate a bradykinin-mediated from a histamine-mediated attack; however, a number of distinguishing features can guide the diagnosis. […] A diagnosis of hereditary or acquired angioedema can be confirmed with blood tests; however, currently available blood tests cannot confirm ACEi-induced angioedema. […] For histamine-mediated angioedema and angioedema of undifferentiated etiology, standard treatment includes H1 and H2 antagonists and oral corticosteroids. […] Several medications are available for the treatment of acute HAE attacks. […] Although these medications are not US Food and Drug Administration approved for ACEi-induced or acquired angioedema, recent and ongoing research suggests a broader role in treatment of bradykinin-mediated attacks in patients who do not have HAE.

• #1 Diagnosis and screening of patients with hereditary angioedema in primary care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4859422/

  A complete physical examination along with a detailed family history is the best way to raise suspicion of HAE in the primary care clinic. […] It is important to distinguish HAE from other forms of angioedema, particularly mast cell-mediated reactions, which are much more common and resolve with epinephrine, antihistamine, and glucocorticoid treatment. […] The diagnosis of HAE should be confirmed through laboratory testing. […] Most patients with HAE due to C1-INH deficiency have persistently low antigenic C4 levels. […] When low C4 levels are found in combination with low C1-INH function, the results had a 98% specificity for HAE due to C1-INH deficiency across a multicenter evaluation. […] To confirm a diagnosis of HAE, it is recommended that physicians work closely with an HAE expert. […] The laboratory diagnosis of HAE-FXII relies on genetic testing, while no confirmatory laboratory tests have been developed for HAE-U. […] It is recommended that all patients carry information explaining the nature of the disease in case of an acute attack.

• #1 Diagnosis and investigations – HAE UK

  https://www.haeuk.org/what-is-hae/diagnosis-and-investigations/

  Testing children for HAE: Symptoms of HAE are less common in babies and very young children, but swellings do occur and very occasionally may be severe. HAE experts recommend testing children for HAE at the age of one year, as tests are less accurate before then. However, genetic testing is possible and may be done on blood taken from the umbilical cord at birth. […] Testing relatives: If you receive a positive diagnosis for HAE, it is essential that close relatives are tested, whether or not they exhibit symptoms at the present time.

• #1 Angioedema – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/patients/skin-allergy/angioedema

  Angioedema is a condition where small blood vessels leak fluid into the tissues under the skin, causing swelling in different parts of the body. […] It is possible to develop angioedema without also developing hives. […] Angioedema is not usually caused by a serious underlying disease and is not likely to cause illness or damage to vital organs such as kidneys, liver, or lungs. […] There is no known cure, but with the right diagnosis and management with appropriate medication, it can usually be prevented. […] Testing is important for people where angioedema is suspected to help rule out other possible causes of symptoms. This usually includes a physical examination by a doctor, and some blood tests. […] Significant or recurring episodes of angioedema may need further tests. […] A diagnosis is usually confirmed if the symptoms disappear once the person stops taking the medication.

• #1 Clinical Review of Hereditary Angioedema: Diagnosis and Management

  https://austinpublishinggroup.com/hematology/fulltext/hematology-v8-id1361.php

  Hereditary Angioedema (HAE) is caused by a deficiency in C1 esterase inhibitor and is characterized by sudden attacks of edema associated with discomfort and pain. […] The hallmarks of HAE recurrent episodes of swelling without urticaria, a family history of HAE, first attack in childhood, and worsening at puberty can be identified by a thorough family history, and the diagnosis can be confirmed by laboratory studies. […] The time between first HAE attack and accurate diagnosis ranges from 10 to 22 years. […] In the absence of a diagnosis and appropriate treatment, patients may experience more frequent and more severe attacks and are at increased risk of death from laryngeal attacks. […] Therefore, HAE should be suspected in patients who do not have a history of significant allergies, who have a family history of recurrent swelling, and who present with recurrent episodes of swelling.

• #1 HAE Diagnosis, Symptoms and Misdiagnosis

  https://www.cinryze.com/hcp/diagnosing-hereditary-angioedema

  Hereditary angioedema (HAE) is under-recognized and frequently misdiagnosed as another condition. While about 40% of patients are now diagnosed within the first 3 years of experiencing symptoms, approximately one third of patients still experience delays of 10 years or more. […] Up to 65% misdiagnosed. One survey showed that up to 65% of HAE patients have been previously misdiagnosed with another condition. Most commonly, subcutaneous attacks are mistaken for allergic reactions. Abdominal attacks are frequently mistaken for appendicitis or irritable bowel syndrome. In fact, in a survey from 2010, up to 19% of patients in the United States underwent unnecessary procedures as a result of misdiagnosis, including removal of the appendix. […] Many factors play key parts in correctly diagnosing HAE. Examining the patient’s family history can provide important insight, since 75% of patients with HAE inherit the disease from a parent. Diagnosis is made through a comprehensive evaluation that should include family history, clinical history, and laboratory testing.

• #1 Hereditary Angioedema (HAE) Diagnosis

  https://www.discoverhae.com/hereditary-angioedema-diagnosis

  Because HAE is so rare, many doctors may not be familiar with it. […] To be certain you have HAE, your doctor will evaluate you and ask for a detailed history of your symptoms. They will also perform a C1 blood test. This test measures the levels of the proteins C4 and C1 esterase inhibitors. It can also help determine whether you have Type I or Type II HAE. In some instances, you may need to take a genetic test to get a diagnosis. […] Knowing your symptoms can help your doctor decide whether you should be tested for HAE. It can help even more if he or she is able to understand the impact of those symptoms on your life. […] In a 2010 online survey of 313 patients, up to 65% of the participants had been misdiagnosed with another condition prior to receiving their HAE diagnosis. […] It can be more complicated diagnosing HAE with normal C1-INH (Type III HAE), because C4 and C1 esterase inhibitor are at normal levels and work the way they should. So, the blood test used to confirm Types I and II can’t be used. Instead, a diagnosis is based on other findings, like symptoms, family history, how you respond to certain medications and genetic testing.

• #1

  https://link.springer.com/article/10.1007/s12325-022-02401-0

  The main goal of acute treatment is to prevent rapid progression to these sequelae as peak symptom severity is reached within hours. It has been proven that early recognition of symptoms and treatment administration within 6 h of onset has been shown to have better outcomes than delayed treatment. Therefore, treatment should be made readily available to be initiated on-demand by the patient. The acute treatment options include plasma-derived C1-INH (pdC1-INH), recombinant human C1-INH (rhC1-INH), ecallantide, and icatibant. Proper education on self-administration techniques and two home doses should be made available to the patient to improve disease management. A subcutaneous (SC) option may relieve many of the challenges associated with the self-administration of IV formulations at home. These medications become effective within 60 min and relief is usually seen within 2 h. A second dose may be warranted if the attack begins to worsen.

• #1 Angioedema Center – Angioedema Types

  https://www.angioedemacenter.com/types.php

  The diagnosis of HAE-C1INH is established by showing low levels of functional C1 inhibitor as well as low levels of C4. In type I HAE, the low antigenic C1 inhibitor levels can substitute for low functional C1 inhibitor levels. In type II HAE antigenic C1 inhibitor levels are normal but functional C1 inhibitor levels are low. Complement levels for C1 and C3 are typically normal. […] The diagnosis of HAE-nl-C1INH is difficult because of the lack of good tests. At the current time, the diagnosis is established by showing the following: normal levels of functional C1 inhibitor as well as normal levels of C4; lack of response to high-dose antihistamines; and either a family history of angioedema or a factor XII mutation. […] The diagnosis of acquired C1 inhibitor deficiency is made by the finding of low C1 inhibitor antigen or function with low C4 and generally a low C1 (or C1q) in a patient who presents in middle age or older without a family history of angioedema.

• #1 Angioedema in the emergency department: a practical guide to differential diagnosis and management | International Journal of Emergency Medicine | Full Text

  https://intjem.biomedcentral.com/articles/10.1186/s12245-017-0141-z

  Angioedema is a common presentation in the emergency department (ED). Airway angioedema can be fatal; therefore, prompt diagnosis and correct treatment are vital. […] This review aims to provide practical guidance on the diagnosis, differentiation, and management of histamine- and bradykinin-mediated angioedema in the ED. […] Diagnosis of the specific type of angioedema is essential for appropriate treatment; however, many ED physicians may not know how to distinguish different types of angioedema or how to effectively treat less common presentations. […] ED physicians must be aware of the different pathophysiologic pathways that lead to angioedema in order to efficiently and effectively manage these potentially fatal conditions. […] To ensure that patients are managed correctly, identification of the underlying cause of angioedema on presentation is essential.

• #1 Angioedema in the emergency department: a practical guide to differential diagnosis and management | International Journal of Emergency Medicine | Full Text

  https://intjem.biomedcentral.com/articles/10.1186/s12245-017-0141-z

  To ensure optimal treatment of patients presenting with angioedema, each ED would benefit from having an established protocol, algorithm, or management plan in place that is displayed or easily accessible. […] Angioedema management in the ED starts with assessing and securing the airway while initiating specific treatment.

• #1 Angioedema diagnosis | Angioedema NewsEnvelope icon

  https://angioedemanews.com/angioedema-diagnosis/

  Angioedema is characterized by swelling, or edema, in the tissues underneath the skin that can usually be diagnosed by a doctor after examining the affected area and discussing other symptoms a person may be experiencing. […] Thus, a detailed review of symptoms along with specific lab tests may be needed to correctly diagnose the specific type of angioedema. […] Swiftly and accurately identifying the cause and type of angioedema a person has is crucial because different angioedema types require distinct treatment approaches. […] A quick and early angioedema diagnosis allows appropriate medication to be given as rapidly as possible to control the acute manifestations of the condition, and facilitate the adoption and implementation of strategies to prevent future swelling episodes. […] The first step in diagnosing and determining the underlying cause of angioedema is assessing a patient’s symptoms and reviewing their clinical and family history.

• #2 Angioedema diagnosis | Angioedema NewsEnvelope icon

  https://angioedemanews.com/angioedema-diagnosis/

  Angioedema is characterized by swelling, or edema, in the tissues underneath the skin that can usually be diagnosed by a doctor after examining the affected area and discussing other symptoms a person may be experiencing. […] Thus, a detailed review of symptoms along with specific lab tests may be needed to correctly diagnose the specific type of angioedema. […] Swiftly and accurately identifying the cause and type of angioedema a person has is crucial because different angioedema types require distinct treatment approaches. […] A quick and early angioedema diagnosis allows appropriate medication to be given as rapidly as possible to control the acute manifestations of the condition, and facilitate the adoption and implementation of strategies to prevent future swelling episodes. […] The first step in diagnosing and determining the underlying cause of angioedema is assessing a patient’s symptoms and reviewing their clinical and family history.

• #2 Diagnosis and screening of patients with hereditary angioedema in primary care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4859422/

  Hereditary angioedema (HAE) is a rare autosomal dominant disease that commonly manifests with episodes of cutaneous or submucosal angioedema and intense abdominal pain. […] Unfortunately, the diagnosis is delayed on average by almost a decade due to a misunderstanding of symptoms and general lack of awareness of the disease. Once physicians suspect HAE, however, diagnostic methods are reliable and available at most laboratories, and include testing for C4, C1-INH protein, and C1-INH functional levels. […] The most remarkable hurdle in contemporary diagnosis of HAE is the initial suspicion by the primary care or emergency physician given the low prevalence of the disease and the nonspecific symptoms, particularly during attacks of abdominal pain. […] Once a clinician suspects HAE, however, laboratory tests and medical management can reliably confirm or exclude the diagnosis of C1-INH-deficient HAE.

• #2 Angioedema: An Overview and Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6188378/

  Angioedema is an increasing cause of hospitalizations in the United States. […] Hereditary angioedema is a rare form of angioedema that can be diagnosed by screening with a C4 level. […] In order to determine the etiology of angioedema, a detailed medical history must be taken with particular attention to identifying possible triggers, as well as the medication history and family history. […] Initial screening should include a C4 level which will be depressed both during as well as between attacks. […] If a C4 level is found to be low or clinical suspicion for hereditary or acquired angioedema is very high, follow-up testing of the C1 INH level and function is warranted. […] In type 1 hereditary angioedema and acquired angioedema, the C1 INH level will be low, typically 30% of normal.

• #2 HAE Diagnosis, Symptoms and Misdiagnosis

  https://www.cinryze.com/hcp/diagnosing-hereditary-angioedema

  To confirm an HAE diagnosis, laboratory testing is necessary. Patients should have serum levels of C4 measured, because levels are invariably low (C4 30% of mean normal level) in patients with HAE who have not yet been treated. When these values are low, a C1 esterase inhibitor C1-INH functional assay should be conducted as well as testing for C1-INH antigen.

• #2 Angioedema diagnosis | Angioedema NewsEnvelope icon

  https://angioedemanews.com/angioedema-diagnosis/

  Specialized blood tests to measure the levels and activity of the C1-INH protein also can be performed to help identify HAE types 1 or 2. […] A diagnosis of HAE can be confirmed by genetic testing to identify the disease-causing mutation(s) a patient may be carrying. […] There are different diagnostic tests available to help clinicians identify the various forms of angioedema other than HAE. […] If a patient shows signs of acute allergic angioedema, such as swelling that’s accompanied by itching or hives, clinicians will first try to determine whether there has been exposure to substances that may potentially trigger an allergic reaction. […] Acquired angioedema is caused by a disruption in the function of the immune system that ultimately causes the levels and activity of the C1-INH protein to dip excessively low. […] In these two forms of angioedema, C4, C1-INH, and C1q levels are normal. […] Idiopathic angioedema is diagnosed when a person experiences angioedema-like swelling, but its underlying cause cannot be identified.

• #2 Angioedema in the emergency department: a practical guide to differential diagnosis and management | International Journal of Emergency Medicine | Full Text

  https://intjem.biomedcentral.com/articles/10.1186/s12245-017-0141-z

  Angioedema is a common presentation in the emergency department (ED). Airway angioedema can be fatal; therefore, prompt diagnosis and correct treatment are vital. […] This review aims to provide practical guidance on the diagnosis, differentiation, and management of histamine- and bradykinin-mediated angioedema in the ED. […] Diagnosis of the specific type of angioedema is essential for appropriate treatment; however, many ED physicians may not know how to distinguish different types of angioedema or how to effectively treat less common presentations. […] ED physicians must be aware of the different pathophysiologic pathways that lead to angioedema in order to efficiently and effectively manage these potentially fatal conditions. […] To ensure that patients are managed correctly, identification of the underlying cause of angioedema on presentation is essential.

• #2 Hereditary Angioedema Workup: Approach Considerations, Complement and Genetic Testing, Imaging Studies

  https://emedicine.medscape.com/article/135604-workup

  Patients with hereditary angioedema (HAE) usually have normal results on most routine laboratory tests. An increased erythrocyte sedimentation rate or eosinophilia is not usually found. If either is present, the clinician should consider a coexisting or different diagnosis. […] The most reliable and cost-effective screening test for HAE is a serum C4 level. The C4 concentration is almost always decreased during attacks and is usually low between attacks. If the C4 level is in the normal range but suspicion for angioedema is high, the test should be repeated. […] The three types of hereditary angioedema (HAE) can be differentiated with complement testing and, in the case of HAE with normal C1 inhibitor levels, genetic testing. […] During attacks of gastrointestinal edema, abdominal radiographs may demonstrate features of ileus in hereditary angioedema (HAE) patients. Abdominal ultrasonography or computed tomography may show edematous thickening of the intestinal wall, a fluid layer around the bowel, and large amounts of free peritoneal fluid. […] Histologically, the angioedema of hereditary angioedema (HAE) is indistinguishable from other types of angioedema. Typically, perivascular mononuclear cell infiltrate and dermal edema similar to that seen with chronic urticaria or angioedema of other types are observed.

• #2 Hereditary Angioedema (HAE) Diagnosing and Testing

  https://www.discoverhae.com/hcp/testing-for-hae

  Identifying when to test and connecting signs and symptoms is key to a timely differential diagnosis of hereditary angioedema (HAE). Because delays in diagnosis can be life-threatening, it’s critical to improve the time to an accurate diagnosis of HAE. […] Prioritize testing for hereditary angioedema (HAE) if your patient presents with a history of recurrent angioedema attacks and/or has a family history of diagnosed HAE. […] Due to the hereditary nature of HAE, family screening is also an important part of the diagnostic process. Family screening for HAE is recommended and encouraged for all blood relatives, including children, parents, siblings, grandparents, aunts, and uncles. […] To help confirm a differential HAE diagnosis, perform an HAE blood test: measure your patient’s serum levels of C4 and antigenic and functional C1-INH levels. […] Additionally, testing the level of C1q antigen can aid in the diagnosis and help to distinguish between HAE and acquired angioedema. […] An accurate and early differential diagnosis is a vital first step in helping your patients with hereditary angioedema.

• #2 Angioedema Center – Angioedema Types

  https://www.angioedemacenter.com/types.php

  The diagnosis of idiopathic angioedema is made by exclusion of other causes of angioedema. […] The diagnosis of Non-Histaminergic Angioedema is similar to HAE-nlC1INH without a family history or a factor XII mutation. […] The diagnosis of allergic angioedema is made by demonstrating the underlying allergy. […] The diagnosis of Drug-Induced Angioedema must be suspected in all patients who experience angioedema while on an ACE inhibitor drug.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Angioedema-Diagnosis.aspx

  Angioedema diagnosis more often than not depends on the history of recent exposure to a triggering agent and presentation with typical clinical symptoms. […] There are some tests that may be prescribed to determine the type of angioedema according to cause. […] Diagnosis is based on the symptoms of angioedema. […] The diagnosis of each type of angioedema according to its cause includes:- […] The first step in diagnosing an allergy is a detailed history of an exposure to a possible allergen or triggering agent. […] Further tests include the skin prick test and blood tests. […] Diagnosing this type of angioedema involves taking a detailed history of all the drugs consumed. […] This form of angioedema is commonly inherited. […] Idiopathic angioedema is diagnosed and confirmed when no other cause is found.

• #2 Severity of Hereditary Angioedema, Prevalence, and Diagnostic Considerations

  https://www.ajmc.com/view/severity-of-hae-prevalence-and-diagnostic-considerations

  Hereditary angioedema (HAE) is a rare disorder, characterized by intermittent attacks of swelling in any part of the body, without the presence of hives. […] Early diagnosis of the disease can lead to the development of an individualized treatment plan to assist with prevention and management of angiodema attacks. […] Delays in diagnosis remain, as healthcare professionals often fail to include HAE in the differential diagnosis when patients present with attacks, and patients therefore often go undiagnosed or are misdiagnosed for several years before a diagnosis of HAE is made. […] It is important for providers to recognize the most common clinical features of HAE and how to evaluate patients to effectively diagnose, prevent, and treat future attacks. […] Early detection and diagnosis of HAE are critical to effectively initiate appropriate patient management and preserve the patients quality of life.

• #2 HAE Diagnosis, Symptoms and Misdiagnosis

  https://www.cinryze.com/hcp/diagnosing-hereditary-angioedema

  Hereditary angioedema (HAE) is under-recognized and frequently misdiagnosed as another condition. While about 40% of patients are now diagnosed within the first 3 years of experiencing symptoms, approximately one third of patients still experience delays of 10 years or more. […] Up to 65% misdiagnosed. One survey showed that up to 65% of HAE patients have been previously misdiagnosed with another condition. Most commonly, subcutaneous attacks are mistaken for allergic reactions. Abdominal attacks are frequently mistaken for appendicitis or irritable bowel syndrome. In fact, in a survey from 2010, up to 19% of patients in the United States underwent unnecessary procedures as a result of misdiagnosis, including removal of the appendix. […] Many factors play key parts in correctly diagnosing HAE. Examining the patient’s family history can provide important insight, since 75% of patients with HAE inherit the disease from a parent. Diagnosis is made through a comprehensive evaluation that should include family history, clinical history, and laboratory testing.

• #2 Angioedema: An Overview and Update

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6188378/

  A C1q level will differentiate between these two types of angioedema, as the C1q level will only be low in acquired angioedema but not type 1 HAE. […] Management of HAE may include both short term and long term prophylaxis as well as treatment of acute episodes. […] Two forms of C1 inhibitor concentrate and one kallikrein inhibitor are now available for treatment of hereditary angioedema.

• #2 Hereditary Angioedema

  https://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/allergy/hereditary-angioedema/

  The diagnosis of HAE should be considered in individuals presenting with recurrent episodes of swelling, particularly if the swelling is not responsive to antihistamines or steroid therapy. The diagnosis should also be considered if swelling episodes are not associated with hives. Published guidelines for the diagnosis of HAE are available. […] Unlike HAE, the main mediator of angioedema in the setting of hypersensitivity reactions or urticaria/angioedema syndromes is histamine, not bradykinin. Bradykinin is responsible for recurrent episodes of swelling seen in HAE and in acquired angioedema and ACE inhibitor-induced angioedema syndromes. […] Defects in C1 inhibitor lead to unregulated breakdown of the complement cascade including low levels of C4, C1 inhibitor, and/or C1 inhibitor function, seen at baseline and during an acute attack. Rarely, C4 levels remain normal at baseline but decrease in the setting of an acute attack. Acquired angioedema syndromes related to underlying proliferative disorders are often associated with low levels of C1q, as shown in (Table 1). In HAE with normal C1 inhibitor, levels are normal at baseline and during attacks. Gene mutation analysis of factor XII (Hageman factor) may establish the diagnosis; however, an unremarkable result does not exclude HAE with normal C1 inhibitor. There are no laboratory tests that can confirm HAE with normal C1 inhibitor or ACE inhibitor-induced angioedema.

• #3 Diagnosis and screening of patients with hereditary angioedema in primary care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4859422/

  A complete physical examination along with a detailed family history is the best way to raise suspicion of HAE in the primary care clinic. […] It is important to distinguish HAE from other forms of angioedema, particularly mast cell-mediated reactions, which are much more common and resolve with epinephrine, antihistamine, and glucocorticoid treatment. […] The diagnosis of HAE should be confirmed through laboratory testing. […] Most patients with HAE due to C1-INH deficiency have persistently low antigenic C4 levels. […] When low C4 levels are found in combination with low C1-INH function, the results had a 98% specificity for HAE due to C1-INH deficiency across a multicenter evaluation. […] To confirm a diagnosis of HAE, it is recommended that physicians work closely with an HAE expert. […] The laboratory diagnosis of HAE-FXII relies on genetic testing, while no confirmatory laboratory tests have been developed for HAE-U. […] It is recommended that all patients carry information explaining the nature of the disease in case of an acute attack.

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