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How is Hereditary Angioedema diagnosed?

See how Hereditary Angioedema is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Hereditary Angioedema

Hereditary Angioedema diagnosis

Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling in various parts of the body, including the skin, gastrointestinal tract, and airways. It is caused by a deficiency or dysfunction of a protein called C1 inhibitor (C1-INH), which plays a crucial role in regulating the immune system and preventing excessive inflammation.



Diagnosing HAE can be challenging due to its rarity and the similarity of symptoms to other conditions. However, there are several key steps and diagnostic tests that healthcare professionals use to identify and confirm the presence of HAE.



Medical History and Physical Examination



The initial step in diagnosing HAE involves taking a detailed medical history of the patient. The healthcare provider will ask about the frequency, duration, and characteristics of the swelling episodes, as well as any family history of similar symptoms. It is important to mention any triggers or factors that seem to provoke the episodes, such as stress, trauma, hormonal changes, or certain medications.



Following the medical history, a thorough physical examination will be conducted. The healthcare provider will assess the location, extent, and duration of the swelling episodes, as well as any associated symptoms. They will also examine the patient's family members for any signs of HAE.



Laboratory Tests



Several laboratory tests are used to confirm the diagnosis of HAE and differentiate it from other conditions with similar symptoms. These tests include:




  • C1-INH Level: This blood test measures the level of C1-INH protein in the blood. HAE patients typically have low levels of functional C1-INH.

  • C4 Level: Another blood test that measures the level of complement component C4, which is typically low in HAE patients.

  • C1-INH Function: This test assesses the functional activity of C1-INH in the blood. HAE patients usually have reduced or dysfunctional C1-INH.

  • C1q Level: C1q is a protein involved in the complement system. Its level is usually normal in HAE patients but decreased in other types of angioedema.

  • Genetic Testing: In some cases, genetic testing may be performed to identify specific mutations or alterations in the genes responsible for HAE. This test can help confirm the diagnosis and determine the type of HAE.



Imaging Studies



In certain situations, imaging studies may be necessary to evaluate the extent and location of swelling episodes. These studies can help rule out other causes of swelling and identify any potential complications. Imaging techniques such as ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) may be used to visualize the affected areas.



Other Considerations



It is important to note that the diagnosis of HAE is often based on a combination of clinical findings, laboratory tests, and the exclusion of other possible causes. The healthcare provider will consider the patient's symptoms, medical history, family history, and test results to make an accurate diagnosis.



If HAE is suspected but the initial tests are inconclusive, the healthcare provider may refer the patient to a specialist, such as an allergist, immunologist, or hematologist, who has expertise in diagnosing and managing HAE.



In conclusion, diagnosing Hereditary Angioedema involves a comprehensive evaluation of the patient's medical history, physical examination, laboratory tests, and sometimes imaging studies. The combination of these diagnostic approaches helps healthcare professionals confirm the presence of HAE, differentiate it from other conditions, and determine the appropriate treatment plan for the patient.


Diseasemaps
7 answers
Lab analysis of blood work.
Absence of acquired or allergy associated causes.
Clinical Assessment.
Family History.
Genetic Testing.

Posted Mar 15, 2017 by Jennifer 1150
Through blood work . Test for c-1 deficiency during a swell.

Posted Apr 27, 2017 by Mary Helen 1400
Through symptoms and multiple blood tests

Posted Apr 28, 2017 by Nikki 1150
Through blood tests 0f the C1 & C4 levels as well as if C1 is functioning or not

Posted May 23, 2017 by Donna 2250
By getting a C1 and C4 compliment test done.

Posted May 14, 2019 by [email protected] 2300
Translated from spanish Improve translation
Hereditary angioedema is diagnosed by a blood test, at any time of life. It is a condition that cannot be cured by what is diagnosed once.

Posted Feb 23, 2017 by Mary 1161

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Stories of Hereditary Angioedema

HEREDITARY ANGIOEDEMA STORIES
Hereditary Angioedema stories
Mine started in 2009 with my first swell, it was my lips and cheek. That is the same time the ucartia started also. It took my Dr. 5 years to find something to help me control and survive my Angioedema. I never knew how bad this could be till I was d...
Hereditary Angioedema stories
My earliest memory of HAE symptoms was when I was about 6 or 7.  I would occasionally get the abdomen swelling, be sick and sweating all day, then I would finally vomit and then feel better, go to sleep and be better the next morning.  I consider m...
Hereditary Angioedema stories
Desde niño tuve que soportar los diversos episodios de AEH sin saberlo, pasando de medico en medico con diversidad de diagnosticos y ordenes de cirugias innecesarias, gracias a Dios no acudi a ninguna. Fue hace tres años que optuve el diagnostico r...
Hereditary Angioedema stories
I was diagnosed accidentally, after seeing a TV show where the host talked about her HAE in 2014. My first attack was at 8, when I was mistakenly hospitalized with appendicitis.  The surgery wasn't done, because I felt better in 3 days.  Next reme...
Hereditary Angioedema stories
i was dx in 2008 with my first fasel swell . im hae type 2 . im co founder of the facebook group ( https://www.facebook.com/groups/156649074393978/ )

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Hereditary Angioedema forum

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Hi All, Is anyone aware of Cinryze experiencing a shortage supply? If so, why and where is this shortage (US or Europe)?   Thanks!
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Hi Everyone, I'm trying to understand what it is like for people with HAE. Therefore, would you ever switch treatment? Why or why not? What happens if you lose insurance coverage? Are you still recieving treatment? Was there a time where you had to ...

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