hereditary angioedema type III

Hereditary angioedema (HAE) type III, also known as HAE with normal C1-inhibitor, is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema). This condition affects the skin and mucous membranes, and can also involve the upper airway, intestines, and other organs.

Key Features:

• Acute edema: HAE type III is marked by sudden and severe episodes of swelling in subcutaneous tissues, viscera, and/or the upper airway.
• Normal C1-inhibitor levels: Unlike types I and II, HAE type III patients have normal levels of C1-inhibitor protein and function.
• Estrogen-related exacerbation: Women are more commonly affected by HAE type III, and estrogen is known to trigger attacks in these individuals.

Symptoms:

• Severe swelling (angioedema) in the skin and mucous membranes
• Episodes of edema can occur in various parts of the body, including:
  • Face
  • Extremities
  • Upper airway
  • Intestines
  • Abdominal pain
  • Ascitis (fluid accumulation in the abdominal cavity)
  • Dyspnea (shortness of breath)

References:

• [2] Type III hereditary angioedema is a familial form of angioedema in which complement C4 and C1 inhibitor (C1 INH) protein and function are normal.
• [8] Unique clinical features of HAE with normal C1-INH include the predominance of affected women, frequent exacerbation by estrogen, and a prominence of angioedema in subcutaneous tissues.
• [7] Skin swellings are the most frequent symptoms of HAE type III. Most often they occur on the face, less frequently at the extremities, and only occasionally involve the upper airway.

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Hereditary Angioedema (HAE) Type III is a rare genetic disorder characterized by recurring episodes of severe swelling, known as angioedema. The symptoms of HAE Type III can vary from person to person but often include:

• Swelling in different parts of the body: This is the main symptom of HAE and can occur in various locations such as the hands, feet, genitals, stomach, face, and/or throat [7].
• Facial edema: Swelling of the face, which can be a prominent feature of HAE Type III [4].
• Intestinal edema: Swelling of the gastrointestinal tract, leading to cramping and abdominal pain [2].
• Vomiting: Some people with HAE may experience vomiting before or during an attack [5].
• Angioedema: This is a type of swelling that can occur in various parts of the body, including the skin and mucous membranes.
• Episodic upper airway obstruction: In severe cases, HAE Type III can cause swelling in the throat, which can lead to difficulty breathing [4].
• Pharyngeal edema: Swelling of the pharynx (throat) can also occur in some individuals with HAE Type III.
• Episodic abdominal pain: Some people may experience recurring episodes of abdominal pain due to intestinal swelling.

Before an attack, some individuals with HAE Type III may experience early warning signs or prodromal symptoms, such as:

• Tingling sensations
• Rash
• Fatigue
• Nausea

It's essential for individuals with HAE Type III to seek medical attention immediately if they experience any of these symptoms. Early treatment can help manage the condition and prevent complications.

References: [1] Mar 11, 2024 — Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. [2] Usually, this swelling is not accompanied by itching, as it might be with an allergic reaction. [3] The typical signs and symptoms of HAE start during childhood or puberty and persist throughout life. [4] Clinical features · Facial edema · Intestinal edema · Vomiting · Angioedema · Episodic upper airway obstruction · Pharyngeal edema · Episodic abdominal pain. [5] Before an attack, some people with HAE experience early warning signs, also called prodromal symptoms, such as tingling, rash, fatigue, or nausea. [6] Mar 31, 2024 — Hereditary angioedema is a rare but serious problem with the immune system. [7] Aug 21, 2024 — Hereditary Angioedema Symptoms ... The main symptom of HAE is swelling in different parts of the body.

Hereditary Angioedema (HAE) Type III is a rare genetic disorder characterized by recurrent episodes of severe swelling, known as angioedema. Diagnosing HAE Type III can be challenging, but several diagnostic tests are available to confirm the condition.

Blood Tests

• C4 and C1 esterase inhibitors: These blood tests measure the levels of proteins that are often low in individuals with HAE. A low level of these proteins can indicate a diagnosis of HAE (2).
• Specific tests for C1-inhibitor protein: Three blood tests, including a screening test called C4, are used to confirm HAE Type III (5).

Genetic Testing

• F12, KNG1, and PLG gene testing: This genetic test is designed to detect disease-causing variants in the F12, KNG1, and PLG genes. It can be used for genetic confirmation of a clinical diagnosis of HAE Type III (6).

Other Tests

• ACE inhibitor administration: Administering an ACE inhibitor can help aid in either making or excluding a diagnosis of HAE (3).
• Routine laboratory tests: Patients with HAE usually have normal results on most routine laboratory tests, except for the specific blood tests mentioned above (4).

It's essential to note that there are no laboratory tests that can confirm HAE Type III definitively. A combination of clinical features and genetic testing is often used to make a diagnosis.

References: [1] - Clinical resource with information about Hereditary angioedema type 3 and its clinical features, F12, available genetic tests from US and labs around the ... [2] - 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 ... [3] - by ES Sinnathamby · 2023 · Cited by 34 — 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 ... [4] - Jul 3, 2024 — Patients with hereditary angioedema (HAE) usually have normal results on most routine laboratory tests. [5] - 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. [6] - 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 ...

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

Treatment Options for HAE Type III:

• C1-INH Concentrates: These are the most commonly used treatment option for acute attacks of HAE Type III. They work by replacing the deficient C1 esterase inhibitor protein in the body.
  • Berinert is a C1-INH concentrate that has been approved for use in adults and children to treat acute abdominal, facial, or laryngeal attacks of HAE.
  • Cinryze and Haegarda are other C1-INH concentrates used to treat HAE Type III.
• Icatibant: This is a bradykinin receptor antagonist that can be self-administered by patients experiencing an acute attack. It works by blocking the action of bradykinin, a peptide involved in the swelling process.
  • Firazyr is a brand name for icatibant and has been approved for use in adults to treat acute attacks of HAE Type III.
• Corticosteroids: These are not effective treatments for HAE Type III, as they do not address the underlying cause of the condition. However, they may be used to manage symptoms such as inflammation or allergic reactions.

Other Treatment Options:

• Danazol: This is an attenuated androgen that has been used to treat HAE Type III in some cases.
• Conestat alfa (Ruconest): This is a C1-INH concentrate that has been approved for use in adults to treat acute attacks of HAE.

References:

• [2] Until now, acute attacks of HAE type III were treated with a C1-INH concentrate, icatibant, corticosteroids, antihistamines, and adrenalin (...)
• [3] Table 3: Therapeutic Options for Treatment of Hereditary Angioedema Acute Attacks. Treatment, Dosing, Main side effects, FDA-approved.
• [4] The drug most commonly used is danazol, but all attenuated androgens are useful in treatment.
• [6] Berinert is indicated for treatment of acute abdominal, facial, or laryngeal attacks of HAE in adults and children.
• [7] Drugs used to treat Hereditary Angioedema; Generic name: conestat alfa systemic; Brand name: Ruconest.

Hereditary angioedema (HAE) type III is a rare condition characterized by recurrent episodes of nonpruritic, nonpitting, subcutaneous or submucosal swelling. When considering the differential diagnosis for HAE type III, it's essential to rule out other types of recurrent angioedema.

Other Types of Recurrent Angioedema:

• Type I C1-INH-AAE: This is usually associated with a lymphoproliferative malignancy causing the production of abnormal C1-inhibitor protein. [3]
• Angiotensin-Converting Enzyme (ACE) Inhibitor-Induced Angioedema: This type of angioedema can occur in individuals taking ACE inhibitors, and it's essential to consider this diagnosis, especially if the patient is on such medication.
• Other Types of Recurrent Angioedema: Various other conditions can cause recurrent angioedema, including but not limited to, allergic reactions, autoimmune disorders, and certain medications.

Key Points to Consider:

• Normal C4 and C1-INH levels are characteristic of HAE type III. [5]
• Mutations in the F12 gene may be analyzed for diagnosis. [5]

Differential Diagnosis Summary:

In summary, when considering the differential diagnosis for hereditary angioedema (HAE) type III, it's crucial to rule out other types of recurrent angioedema, including Type I C1-INH-AAE, ACE inhibitor-induced angioedema, and other conditions that can cause similar symptoms. Normal C4 and C1-INH levels are characteristic of HAE type III, and mutations in the F12 gene may be analyzed for diagnosis.

References: [3] by K Bork · 2010 · Cited by 148 — The most important differential diagnosis of HAE type III are other types of recurrent angioedema. Angioedema is a clinical sign that belongs to various ... [5] by K Bork · 2010 · Cited by 148 — The most important differential diagnosis of HAE type III are other types of recurrent angioedema.