How to Diagnose Hereditary Angiodema
Check your family history., Take note of your symptoms., Talk to your doctor., Undergo a blood test., Call 911 if your throat starts swelling., Avoid taking antihistamines for unexplained symptoms., Choose a treatment option based on your type of...
Step-by-Step Guide
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Step 1: Check your family history.
This disorder is autosomal dominant.
This means that is likely that one of your parents or another family member has it as well.
If you are adopted and are worried about having this disorder, you may be able to get a genetic test. , Unfortunately, the symptoms of hereditary angioedema are often confused with other, more common diseases.
Thus, this disease is often misdiagnosed.
Your doctor may do many tests to rule out other underlying issues.Common symptoms of hereditary angioedema include: swelling in the throat that makes it difficult to breathe and/or talk, cramping in the stomach for no obvious reason, unexplained swelling in the extremities (e.g. arms, legs, genitals, tongue, etc.), and/or an unexplained red rash on the skin that isn’t itchy. , The only way to diagnose hereditary angioedema definitively is to have a blood test conducted by a doctor.
Therefore, you’ll need to visit your doctor and discuss the matter with them.
Explain to your doctor what it is that makes you think you have hereditary angioedema.
Bring along any medications you are taking.
It may not be relevant, but you can’t be sure; therefore, it is best to bring your medications in their original bottles so that your doctor has all of the necessary information about your medications.
Write down any information you think could be helpful.
For example, any symptoms you have had that a doctor couldn’t identify the cause of.
One example of a common symptom is abdominal cramping that has no obvious cause. , The only way to diagnose this disease is through a blood test.
Blood tests only work during an exacerbation of your symptoms.
Your doctor may order such a test if they suspect angioedema to be causing your symptoms.
Specifically, the blood test should measure C1-inhibitor function and level, as well as levels of C4 in your blood.Ideally, such blood tests would be conducted during an episode (e.g. a time when you are experiencing symptoms such as pain and/or swelling). , If you start having difficulty breathing or if your throat starts swelling, call 911 for immediate emergency care.
This is a life threatening episode, and you will need immediate medical attention., Unfortunately, the symptoms of hereditary angioedema don’t respond to antihistamines.
If you have yet to be diagnosed, many doctors will prescribe an antihistamine as a means of treatment for your symptoms.
In cases of emergency, epinephrine can be used to treat someone with hereditary angioedema.
For example, if they are unable to breathe due to a swollen airway. , As of 2016, there are five treatments for hereditary angioedema that have been approved by the US Food and Drug Administration (FDA).Some of these treatments are given intravenously (e.g. through an IV) while others are given as an injection.
Most people who have hereditary angioedema are able to administer these treatments themselves, in the comfort of their home.The treatment option that will be best for you is dependent upon your specific case.
If you have a non-functioning C1-inhibitor, for example, your doctor might prescribe you Cinryze, Berinert, or Ruconest, which all work to help your C1-inhibitor function.Be sure to talk with your doctor about the pros and cons of each medication.
These medications come with their own negative side-effects, so you should monitor your health carefully while on any treatment medication. , Many of the treatments available have not been approved for use in children under the age of 12 years old.
Therefore, if your child has hereditary angioedema, you will need to seek different treatment options.
Make sure that adults that spend time with your children outside of your presence know about your child’s condition, and what they should do in the event of an attack.
As of 2016, the only medication approved for children under the age of 12 years old is Berinert.The US hereditary angioedema association (HAEA) offers useful brochures and information that you can provide to adults that are responsible for your child (e.g. teachers, family friends, coaches, etc.).
The website for this information is http://www.haea.org/living-with-hae/children-and-teens/. , The most obvious thing that occurs in a person with hereditary angioedema is swelling underneath the skin.
This swelling usually occurs in the stomach, the genitals, or the throat and mouth area.
This occurs because of a C1-inhibitor that doesn’t function properly.
C1-inhibitor controls a protein in the blood known as C1.
Together with the immune system, C1 normally controls the inflammation response in the body.
Thus, if the C1-inhibitor does not function properly, neither does the C1 protein.There are certain triggers that seem to make symptomatic episodes more common. #*For example, menstruation and pregnancy, breastfeeding, and the use of birth control pills or hormone replacement therapy in women all seem to make episodes occur more frequently.
Other triggers seem to be caused by dental procedures or use of ACE inhibitors, which are commonly prescribed to treat high blood pressure., Hereditary angioedema is almost always caused by a genetic defect that is passed down from the parents to the child.
A few cases of spontaneous mutation of the gene that controls the C1-inhibitor have occurred.
This spontaneous mutation occurs at conception.
Regardless of whether your case was caused by a genetic defect or spontaneous mutation, you have a 50% chance of passing the disease on to any children you might have.This does not mean that you should not have children.
However, it is important to discuss family planning with your doctor if you have hereditary angioedema in order to understand the risks. , Hereditary angioedema occurs in about 1 in 50,000 people, making the disease quite rare.For this reason, and because the symptoms are often mistaken for other, more common issues, many people with the disease go for many years without getting a proper diagnosis.Unfortunately, this also tends to take people with the disease on a long and frustrating road because they aren’t able to find a way to manage the disease because they don’t know they have it.
However, it is important to have the disease diagnosed as soon as possible.
Knowing what the problem is and how to best treat it is important for living a normal life.
Not only that, but hereditary angioedema can be life threatening if the airway swells and prevents a person from breathing. -
Step 2: Take note of your symptoms.
-
Step 3: Talk to your doctor.
-
Step 4: Undergo a blood test.
-
Step 5: Call 911 if your throat starts swelling.
-
Step 6: Avoid taking antihistamines for unexplained symptoms.
-
Step 7: Choose a treatment option based on your type of angioedema.
-
Step 8: Make special considerations for children.
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Step 9: Learn about hereditary angioedema.
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Step 10: Understand that this disease is usually genetic.
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Step 11: Be aware that this disease is commonly misdiagnosed.
Detailed Guide
This disorder is autosomal dominant.
This means that is likely that one of your parents or another family member has it as well.
If you are adopted and are worried about having this disorder, you may be able to get a genetic test. , Unfortunately, the symptoms of hereditary angioedema are often confused with other, more common diseases.
Thus, this disease is often misdiagnosed.
Your doctor may do many tests to rule out other underlying issues.Common symptoms of hereditary angioedema include: swelling in the throat that makes it difficult to breathe and/or talk, cramping in the stomach for no obvious reason, unexplained swelling in the extremities (e.g. arms, legs, genitals, tongue, etc.), and/or an unexplained red rash on the skin that isn’t itchy. , The only way to diagnose hereditary angioedema definitively is to have a blood test conducted by a doctor.
Therefore, you’ll need to visit your doctor and discuss the matter with them.
Explain to your doctor what it is that makes you think you have hereditary angioedema.
Bring along any medications you are taking.
It may not be relevant, but you can’t be sure; therefore, it is best to bring your medications in their original bottles so that your doctor has all of the necessary information about your medications.
Write down any information you think could be helpful.
For example, any symptoms you have had that a doctor couldn’t identify the cause of.
One example of a common symptom is abdominal cramping that has no obvious cause. , The only way to diagnose this disease is through a blood test.
Blood tests only work during an exacerbation of your symptoms.
Your doctor may order such a test if they suspect angioedema to be causing your symptoms.
Specifically, the blood test should measure C1-inhibitor function and level, as well as levels of C4 in your blood.Ideally, such blood tests would be conducted during an episode (e.g. a time when you are experiencing symptoms such as pain and/or swelling). , If you start having difficulty breathing or if your throat starts swelling, call 911 for immediate emergency care.
This is a life threatening episode, and you will need immediate medical attention., Unfortunately, the symptoms of hereditary angioedema don’t respond to antihistamines.
If you have yet to be diagnosed, many doctors will prescribe an antihistamine as a means of treatment for your symptoms.
In cases of emergency, epinephrine can be used to treat someone with hereditary angioedema.
For example, if they are unable to breathe due to a swollen airway. , As of 2016, there are five treatments for hereditary angioedema that have been approved by the US Food and Drug Administration (FDA).Some of these treatments are given intravenously (e.g. through an IV) while others are given as an injection.
Most people who have hereditary angioedema are able to administer these treatments themselves, in the comfort of their home.The treatment option that will be best for you is dependent upon your specific case.
If you have a non-functioning C1-inhibitor, for example, your doctor might prescribe you Cinryze, Berinert, or Ruconest, which all work to help your C1-inhibitor function.Be sure to talk with your doctor about the pros and cons of each medication.
These medications come with their own negative side-effects, so you should monitor your health carefully while on any treatment medication. , Many of the treatments available have not been approved for use in children under the age of 12 years old.
Therefore, if your child has hereditary angioedema, you will need to seek different treatment options.
Make sure that adults that spend time with your children outside of your presence know about your child’s condition, and what they should do in the event of an attack.
As of 2016, the only medication approved for children under the age of 12 years old is Berinert.The US hereditary angioedema association (HAEA) offers useful brochures and information that you can provide to adults that are responsible for your child (e.g. teachers, family friends, coaches, etc.).
The website for this information is http://www.haea.org/living-with-hae/children-and-teens/. , The most obvious thing that occurs in a person with hereditary angioedema is swelling underneath the skin.
This swelling usually occurs in the stomach, the genitals, or the throat and mouth area.
This occurs because of a C1-inhibitor that doesn’t function properly.
C1-inhibitor controls a protein in the blood known as C1.
Together with the immune system, C1 normally controls the inflammation response in the body.
Thus, if the C1-inhibitor does not function properly, neither does the C1 protein.There are certain triggers that seem to make symptomatic episodes more common. #*For example, menstruation and pregnancy, breastfeeding, and the use of birth control pills or hormone replacement therapy in women all seem to make episodes occur more frequently.
Other triggers seem to be caused by dental procedures or use of ACE inhibitors, which are commonly prescribed to treat high blood pressure., Hereditary angioedema is almost always caused by a genetic defect that is passed down from the parents to the child.
A few cases of spontaneous mutation of the gene that controls the C1-inhibitor have occurred.
This spontaneous mutation occurs at conception.
Regardless of whether your case was caused by a genetic defect or spontaneous mutation, you have a 50% chance of passing the disease on to any children you might have.This does not mean that you should not have children.
However, it is important to discuss family planning with your doctor if you have hereditary angioedema in order to understand the risks. , Hereditary angioedema occurs in about 1 in 50,000 people, making the disease quite rare.For this reason, and because the symptoms are often mistaken for other, more common issues, many people with the disease go for many years without getting a proper diagnosis.Unfortunately, this also tends to take people with the disease on a long and frustrating road because they aren’t able to find a way to manage the disease because they don’t know they have it.
However, it is important to have the disease diagnosed as soon as possible.
Knowing what the problem is and how to best treat it is important for living a normal life.
Not only that, but hereditary angioedema can be life threatening if the airway swells and prevents a person from breathing.
About the Author
Ann Johnson
Enthusiastic about teaching practical skills techniques through clear, step-by-step guides.
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