Episodic angioedema with eosinophilia is a disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). Explore symptoms, causes, and genetics of this rare condition.
Eosinophils in peripheral blood
Image by Ed Uthman, MD, Houston, Texas, USA/Wikimedia
Summary
What Is Episodic Angioedema with Eosinophilia?
Episodic angioedema with eosinophilia is a disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns. The cause of this condition is unknown. Treatment may not be needed, but can involve the use of steroids.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
Angioedema
Quincke's edema is a common symptom in patients with bulges, either during anaphylactic reactions or in patients with chronic urticaria. The coexistence of both papules and angioedema was recognized early, primarily in patients with hypersensitivity reactions to foods. In 1586, Marcello Donati described swelling of the lips in a young male patient in response to the ingestion of eggs. Later reports from the mid-1600s described similar cases of angioedema in response to honey or mussels. Until the late 19th century, angioedema was considered exclusively a sign of hives and there was associated, even if certain cases of isolated Quincke's edema, that is to say without hair, were reported as early as the mid-19th century. Diez or Graves, for example, highlighted the risk of laryngeal edema and hypothesized that similar swellings could affect the mucosa of the gastrointestinal tract. In 1882, it was Eugen Dinkelacker and his teacher Heinrich Irenäus Quincke (1842 -1922), German internist and surgeon in Kiel, who described HAE for the first time. Dinkelacker's doctoral thesis documented 14 cases of angioedema, some with and some without papules. Retrospectively, at least 2 of the described patients had HAE: a 22-year-old patient with chronic recurrent attacks in the face, larynx and abdominal angioedema lasting up to 3 days since early childhood, and her infant son.
Both patients appeared to have a history of developing precursor symptoms, including erythema marginatum. Quincke and Dinkelacker used the term “acute angioedema” to describe the condition they described, which quickly became known as angioedema. At the time, urticaria was thought to be of “angioneurotic” origin, that is, due to increased permeability of capillaries due to spasm in response to neurogenic influences. It is therefore not surprising that Quincke and Dinkelacker both suggested that the cases of angioedema they observed were also due to "angioneurosis." In fact, the term “angioneurotic edema” had already been used by other authors, for example by Bannister in 1880 in his description of sudden, inflammatory swellings. Quincke, also known for performing lumbar puncture
Image by Mohammad2018/Wikimedia
Angioedema
Mohammad2018/Wikimedia
Causes
Interleukin-5
Image by Oliver William Massey,Cenk Suphioglu/Wikimedia
Interleukin-5
Figure 1. Inhibitors of the IL-5 pathway.
Interleukin 5 (IL-5) is an interleukin produced by type-2 T helper cells and mast cells.
Image by Oliver William Massey,Cenk Suphioglu/Wikimedia
What Causes Episodic Angioedema with Eosinophilia?
The cause of episodic angioedema with eosinophilia (EAE) is not well understood. Experts suspect that certain proteins in the immune system called interleukins may play a role. Specifically, interleukin 5 (IL-5) levels are elevated during episodes. Studies have lead to the belief that these proteins play a role in the inflammatory process involved in EAE.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
interleukin 5 Crystal Structure
interleukin 5 - Crystal structure of IL-5 as published in the Protein Data Bank (PDB: 1HUL)
Image by Ramin Herati/Wikimedia
interleukin 5 Crystal Structure
Ramin Herati/Wikimedia
Symptoms
Urticaria
Image by James Heilman, MD
Urticaria
Urticaria
Image by James Heilman, MD
What Are the Signs and Symptoms of Episodic Angioedema with Eosinophilia?
Swelling under the skin (angioedema)
Hives (urticaria)
Fever
Swelling
Weight gain
Reduced production of urine
Laboratory findings during these episodes may include:
An elevated number of the white blood cells known as eosinophils (eosinophilia)
Elevated levels of certain antibodies, including IgG and IgM
The episodes usually occur every 3-4 weeks and resolve on their own within several days. There may be an increase in urine production once symptoms resolve.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
eosinophilia
Eosinophils in peripheral blood in a patient with eosinophilia of unknown etiology.
Image by Author Ed Uthman, MD, Houston, Texas, USA
eosinophilia
Author Ed Uthman, MD, Houston, Texas, USA
Treatment
Glivec 400mg
Image by pharma/Wikimedia
Glivec 400mg
Package of 90 pieces of Novartis Glivec. 400mg Imatinib per tablet. German distribution package.
Image by pharma/Wikimedia
How Might Episodic Angioedema with Eosinophilia Be Treated?
Treatment may not be needed for episodic angioedema with eosinophilia (EAE), since symptoms usually resolve on their own. When treatment is initiated, steroids are usually the first choice. Certain medications used to treat cancer, including Imatinib (Gleevac) have also been successfully used in treating EAE.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (2)
Mechanism imatinib
Mechanism of the drug imatinib. By me.
Image by Sodium/Wikimedia
Imatinib molecule spacefill
Space-filling model of the imatinib molecule, an anti-cancer drug.
Color code:
Carbon, C: black
Hydrogen, H: white
Oxygen, O: red
Nitrogen, N: blue
Image by Jynto (talk)/Wikimedia
Mechanism imatinib
Sodium/Wikimedia
Imatinib molecule spacefill
Jynto (talk)/Wikimedia
Prognosis
Prognosis Icon
Image by mcmurryjulie/Pixabay
Prognosis Icon
Image by mcmurryjulie/Pixabay
What Is the Long-Term Outlook for People with Episodic Angioedema with Eosinophilia?
Generally, episodic angioedema with eosinophilia (EAE) is considered to be a benign condition with a self limiting course. Typically, other organs are not involved and over time, episodes may resolve on their own. In some instances, people with EAE can develop symptoms in other organs, such as cardiac disease. Symptoms may also progress to other types of non episodic hypereosinophilic syndrome.
Source: Genetic and Rare Diseases (GARD) Information Center
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Episodic Angioedema with Eosinophilia
Episodic angioedema with eosinophilia is a disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). Explore symptoms, causes, and genetics of this rare condition.