hereditary angioedema type I

Hereditary Angioedema (HAE) Type I is a form of HAE characterized by acute edema in subcutaneous tissues, viscera, and/or the upper airway [2]. This condition is inherited and results in recurrent episodes of nonpruritic, nonpitting, subcutaneous or submucosal swelling [4].

The symptoms of HAE Type I typically begin in childhood or young adulthood and worsen around puberty [6]. People with this type of HAE experience recurrent episodes of swelling in the hands, feet, genitals, stomach, face, and/or throat that can last from two to five days [3]. The swelling is not caused by inflammation but rather by the accumulation of fluid in the tissues.

HAE Type I is a rare genetic disease characterized by transitory and recurrent subcutaneous and/or submucosal edemas resulting in various symptoms [7]. It is a serious problem with the immune system that is passed down through families [8].

The physical signs of HAE Type I include overt, noninflammatory swelling of the skin and mucous membranes, which are referable to the affected areas [5]. This type of HAE can cause attacks of swelling in various parts of the body, including the stomach (abdomen), face, feet, genitals, hands, and throat [9].

Overall, Hereditary Angioedema Type I is a rare but serious condition that requires proper diagnosis and treatment to manage its symptoms and prevent complications.

Hereditary Angioedema (HAE) Type I is a rare genetic disorder characterized by recurring episodes of severe swelling. The symptoms of HAE Type I can vary from person to person, but here are some common signs and symptoms:

• Sudden and painful swelling: Swelling can occur in any part of the body, including the hands, feet, genitals, stomach, face, and/or throat [3][4].
• Swelling without itching or hives: Unlike allergic reactions, HAE Type I swelling is not accompanied by itching or hives [1].
• Abdominal cramping: Swelling of the gastrointestinal tract can lead to cramping, which can be severe and debilitating [2].
• Airway blockage: In some cases, HAE Type I can cause airway blockage due to throat swelling and sudden hoarseness [6].
• Prodromal symptoms: Some people may experience early warning signs before an attack, such as tingling, rash, fatigue, or nausea [5].

These episodes of swelling can be unpredictable and can last from a few days to several weeks if left untreated. It's essential for individuals with HAE Type I to work closely with their healthcare providers to manage symptoms and prevent complications.

References: [1] Context result 1 [2] Context result 1 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6

Hereditary Angioedema (HAE) Type I can be diagnosed through various laboratory tests and clinical evaluations.

Blood Tests

• Serum C4 level is the most reliable and cost-effective screening test for HAE. A decreased C4 concentration is almost always present during an acute attack [3].
• Baseline laboratory studies, including liver function tests, albumin, creatinine kinase, blood urea nitrogen, creatinine, are recommended for all HAE patients [2].

Specific Tests

• Serum levels of C4 and antigenic and functional C1-INH levels should be measured to confirm a differential HAE diagnosis [1].
• Specific tests of the level and function of the C1-inhibitor protein are used to confirm HAE [6].

Genetic Testing

• Genetic confirmation of a clinical diagnosis of HAE can be done through disease-causing variants in the F12, KNG1, and PLG genes [7].

Clinical Evaluation

• 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 corticosteroids [8].
• Missed or delayed diagnosis can result in unnecessary treatments and surgery [9].

It's essential to note that a combination of these tests and clinical evaluations will help confirm an HAE Type I diagnosis.

References: [1] 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. [2] Baseline laboratory studies are recommended for all HAE patients, including liver function tests, albumin, creatinine kinase, blood urea nitrogen, creatinine, ... [3] Jul 3, 2024 — The most reliable and cost-effective screening test for HAE is a serum C4 level. ... The C4 concentration is almost always decreased during ... [6] There are three blood tests that are used to confirm HAE - a screening test called C4 and specific tests of the level and function of the C1-inhibitor protein. [7] This test is designed to detect disease-causing variants in the F12, KNG1, and PLG genes and to be utilized for genetic confirmation of a clinical diagnosis of ... [8] by R Siles — The diagnosis of HAE should be considered in individuals presenting with recurrent episodes of swelling, particularly if the swelling is not responsive to ... [9] Chart of tests to confirm HAE types I and II. Importance of diagnosis. Missed/delayed diagnosis can result in unnecessary treatments and surgery.2,6

Hereditary Angioedema (HAE) Type I is a rare genetic disorder characterized by recurring episodes of severe swelling, typically affecting the limbs, face, and airways.

Treatment Options:

For HAE Type I, the primary goal of treatment is to alleviate symptoms during acute attacks. The following medications are commonly used:

• Icatibant (Firazyr): A selective bradykinin B2 receptor antagonist that has

Hereditary Angioedema (HAE) Type I is a genetic disorder characterized by recurring episodes of severe swelling, typically affecting the skin and mucous membranes. The differential diagnosis for HAE Type I involves considering other conditions that may present with similar symptoms.

According to various medical sources [3][4], the differential diagnosis for HAE Type I includes:

• Acute allergic urticaria: This condition is characterized by sudden onset of hives, itching, and swelling, often associated with allergies or sensitivities.
• Angioedema associated with type I hypersensitivity: This refers to a condition where angioedema occurs in response to an allergen, such as a food or medication.
• Other conditions that may present with similar symptoms include:
  • Acquired angioedema
  • Intestinal occlusion syndrome
  • Histamine-induced angioedema

It's essential to note that HAE Type I is caused by a deficiency in C1 inhibitor level and/or function [3], which distinguishes it from other conditions. A definitive diagnosis of HAE Type I can be made through genetic testing, which identifies the mutation responsible for the condition [10].

In patients presenting with symptoms suggestive of HAE Type I, it's crucial to consider these differential diagnoses and perform further evaluation, including laboratory tests and imaging studies, to rule out other conditions.

References: [3] by R Siles — The differential diagnosis of HAE includes the following: ... Deficiency in C1 inhibitor level and/or function account for type I and type II HAE, respectively. [4] by K Staller · 2022 · Cited by 8 — HAE should be considered in the differential diagnosis for patients with unexplained abdominal pain, nausea, vomiting, and/or diarrhea who have complete ... [10] Learn more about hereditary angioedema differential diagnosis and HAE blood test for genetic testing. Identify HAE Type 1 and HAE Type 2 by testing C1-INH ...