posted February 23, 2017 03:21 PM            

both my grandmother and auntie have this. I don't know much about it, but they do receive treatment. My auntie was in hospital with a really bad attack for about 9 mths, took them that long to get the swelling under control, and it was her throat so she almost suffocated!

All I really know is that it is caused by a missing chromosome and that it is passed down through the females in the family.
It's incredibly rare, which is why so little is known about it.

Both my auntie and grandmother have managed to live normal lives though, with the occasional hospital stay.

posted February 23, 2017 03:42 PM            

I know there are chromosome treatments being done for other rare conditions. (Saw a story on 60-Minutes or Vice, a long time ago. The person was in either Central America or north-western South America?)

posted February 23, 2017 08:47 PM            

quote:

---

Originally posted by Voix_de_la_Mer:
Hey Lexx,

both my grandmother and auntie have this. I don't know much about it, but they do receive treatment. My auntie was in hospital with a really bad attack for about 9 mths, took them that long to get the swelling under control, and it was her throat so she almost suffocated!

All I really know is that it is caused by a missing chromosome and that it is passed down through the females in the family.
It's incredibly rare, which is why so little is known about it.

Both my auntie and grandmother have managed to live normal lives though, with the occasional hospital stay.

I'm sorry you have to deal with this and hope you can get treatment!
Please don't delay in going to the A&E if you have an attack, they can be very dangerous if the throat swells.

---

quote:

---

Originally posted by Voix_de_la_Mer:
Hey Lexx,

both my grandmother and auntie have this. I don't know much about it, but they do receive treatment. My auntie was in hospital with a really bad attack for about 9 mths, took them that long to get the swelling under control, and it was her throat so she almost suffocated!

All I really know is that it is caused by a missing chromosome and that it is passed down through the females in the family.
It's incredibly rare, which is why so little is known about it.

Both my auntie and grandmother have managed to live normal lives though, with the occasional hospital stay.

I'm sorry you have to deal with this and hope you can get treatment!
Please don't delay in going to the A&E if you have an attack, they can be very dangerous if the throat swells.

---

The type I am most likely afflicted with is, most likely TYPE 3.
It is listed at the end of this post and is not included in the main list because little is known about it and it is called "new"; ie; newly discovered type that caused folks to not be correctly diagnosed and is still very difficult to diagnose and treat.
See TYPE 3 at end of this post.

Here is a breakdown of all the known types to date: http://www.haea.org/wp-content/uploads/Comprehensive-Table_chart-only.pdf

[quote]A.
TYPE
Hereditary Angioedema Type I (HAE-I)
DESCRIPTION
Represents approximately 80 to 85% of HAE cases. C1- inhibitor is considerably below normal due to a defective gene on chromosome 11. There is usually a family history of angioedema, but a number of cases are due to a spontaneous mutation of the gene. Does not respond to antihistamines and corticosteroids.
COMMON SYMPTOMS
Swelling can occur in the extremities, abdomen, throat and other organs. Swelling of the airway can be fatal. Abdominal swelling usually involves pain, vomiting and diarrhea. Symptoms usually appear early in life, most often by age 13 and may increase in severity after puberty. Episodes may be spontaneous or triggered by physical trauma or emotional stress.
COMPLEMENT SYSTEM
Low levels of C1-inhibitor. C4 is almost always low. C1, C3 and C1q are normal. Abnormal complement (above) is the same whether the condition is hereditary or spontaneous.
POSSIBLE TREATMENT*
Anabolic steroids (also known as androgens) such as danazol, oxandrolone and stanozolol have, historically, been the most commonly prescribed preventive HAE therapies. While anabolic steroids have been shown to be useful, they are not well-tolerated by many women, directly linked to liver toxicity and can cause an increase in cholesterol levels. In addition, these drugs should not be used to treat children, some of whom, tragically, are severely affected and suffer frequent attacks. Research indicates that patients treated with anabolic steroids can experience breakthrough laryngeal or abdominal attacks that require hospitalization. Five new treatments are now FDA-approved for treating HAE, including two C1-inhibitor products, a kallikrein inhibitor, and a bradykinin receptor antagonist. Patients and their physicians now have options for developing a non-steroidal HAE treatment plan tailored to meet each patient’s unique needs.

Cinryze™ brand of C1-inhibitor has been FDA-approved for preventing HAE attacks. Cinryze ™ is delivered intravenously and is approved for home infusion

Berinert® brand of C1-inhibitor has been FDA-approved for treating acute abdominal, facial or laryngeal HAE attacks. Berinert® is delivered intravenously and is approved for on-demand treatment through self-administration.

Kalbitor® brand of plasma kallikrein inhibitor has been FDA-approved to treat acute HAE attacks in patients 12 years of age and older. Kalbitor® is delivered through subcutaneous injections.

Firazyr® brand of bradykinin receptor antagonist has been FDA-approved for treating acute HAE attacks in patients 18 years and older. Firazyr® is delivered by subcutaneous injection and is approved for self-administration.

Ruconest® brand of C1-inhibitor [recombinant] has been FDA-approved for treating acute HAE attacks in adults and adolescents. RUCONEST is delivered intravenously and is approved for self-administration.*

***************************
B.
TYPE
Hereditary Angioedema Type II (HAE-II)
DESCRIPTION
Represents approximately 15 to 20% of HAE cases. Similar description to Type I, but C1-inhibitor does not function properly. Does not respond to antihistamines and corticosteroids.
COMMON SYMPTOMS
Same as HAE-I.
b]COMPLEMENT SYSTEM[/b]
C1-inhibitor level may be normal or elevated, but it is dysfunctional. C1, C3 and C1q are normal, but C4 is almost always low.
POSSIBLE TREATMENT*
Same as HAE-I.

***************************
C.
TYPE
Hereditary Angioedema with Normal C1-Inhibitor
DESCRIPTION
Number of cases unknown. Family history must be present. C1-inhibitor levels and function are normal. A minority of cases associated with mutations in the coagulation factor XII gene, however, this mutation has not been shown to be the cause of the condition. Predominantly reported in women, but affected male family members have also been identified. Swelling sometimes associated with pregnancy and the use of estrogen-containing oral contraceptives. Does not respond to antihistamines and corticosteroids.
COMMON SYMPTOMS
Similar to HAE-I and HAE-II.
COMPLEMENT SYSTEM
Normal.
POSSIBLE TREATMENT*
Research continues. Published cases document response to FDA-approved HAE therapies.

***************************
D.
TYPE
Acquired Angioedema Type I (AAE-I) AAE-I & II are considered very rare;
DESCRIPTION
There are few immune complexes that are usually linked to an underlying lymphoproliferative disorder destroy the function of C1-inhibitor. Angioedema can be an indicator that a lymphoproliferative disease is developing, so early detection needs to be emphasized.
COMMON SYMPTOMS
Similar to HAE. The symptoms typically appear in the fourth decade of life or later. Because acquired angioedema is not related to a genetic defect there is an absence of a family history of symptoms.
COMPLEMENT SYSTEM
Low level of C1-inhibitor and C4. C1q is usually reduced, but not always.
POSSIBLE TREATMENT*
Diagnosis and treatment of underlying lymphoproliferative disease often eliminates the root cause. Antifibrinolytics such as tranexamic acid and epsilon-aminocaproic acid for possible prevention of episodes. Androgen
***************************therapy may help

E.
TYPE
Acquired Angioedema Type II (AAE-II) AAE-I & II are considered very rare; there are few reported cases. Autoantibodies are present and destroy C1-inhibitor function. There is no apparent underlying disorder.
DESCRIPTION
Autoantibodies are present and destroy C1-inhibitor function. There is no apparent underlying disorder.
COMMON SYMPTOMS
Same as AAE-I.
COMPLEMENT SYSTEM
Same as AAE-I. A lab test for autoantibodies may be appropriate.
POSSIBLE TREATMENT*
Antifibrinolytics such as tranexamic acid and epsilon-aminocaproic acid for possible prevention. It is possible that immunosuppressive therapy might be successfuL

***************************
F.
TYPE
Idiopathic
DESCRIPTION
Swelling and/or hives persist beyond 6 weeks. Thyroid dysfunction should be considered.
COMMON SYMPTOMS
Swelling may occur just about anywhere and may be accompanied by urticaria (hives).
COMPLEMENT SYSTEM
Normal.
POSSIBLE TREATMENT*
Primarily antihistamines. DHEA. 1-thyroxine for thyroid dysfunction.Prednisone therapy.

***************************
G.
TYPE
Nonhistaminergic (INAE)]/b] May occur in about 1 out of 20 cases of angioedema
[b]DESCRIPTION
Angioedema without urticaria (usually not responsive to H1 antihistamine blockers). Parasites, infections and autoimmune diseases are not present.
COMMON SYMPTOMS
Swelling may occur anywhere: face, arms, legs, genitalia, throat, abdomen (but abdomen is less frequent than those with HAE). Symptoms do not change due to menstrual period or pregnancy.
COMPLEMENT SYSTEM
Normal.
POSSIBLE TREATMENT*
Antifibrinolytics such as tranexamic acid and epsilon-aminocaproic acid.

***************************
H.
TYPE
Allergic This is the most common form of angioedema.
DESCRIPTION
Swelling and/or hives are a reaction to an outside influence such as food, bee sting, cold, heat, latex or drug. The outside influence provokes a histamine reaction, which leads to swelling and/or the hives.
COMMON SYMPTOMS
Swelling occurs most often in the face and throat area. Urticaria (hives) may be present. If condition persists beyond 6 weeks it is considered chronic idiopathic and not an allergic reaction.
COMPLEMENT SYSTEM
Normal.
POSSIBLE TREATMENT*
Avoid the substance or behavior that causes the allergic reaction. Antihistamines. Adrenaline (epinephrine) possibly as autoinjectors (self-injecting pens) containing epinephrine for emergencies.

***************************
I.
TYPE
ACE-Inhibitor (Angiotensin-Converting Enzyme Inhibitor) Possible cause for 4 to 8% of people with angioedema.
DESCRIPTION
Caused by ACE-Inhibitors for high blood pressure (captopril, enalapril, genzapril, quinapril, ramipril). Swelling may commence anywhere from a few hours to years after first starting medication.
COMMON SYMPTOMS
Swelling may occur just about anywhere: throat, face, lips, tongue, hands, feet, genitals, intestines. If urticaria is present it reduces the probability of a link to ACE Inhibitors.
COMPLEMENT SYSTEM]/b]
Normal.
[b]POSSIBLE TREATMENT*
Suspension or change of medication

***************************
***************************
b]NOTE:[/b]
However Type 3 is not listed above.
The kind I have is; most likely they think;
Hereditary angioedema type 3 (HAE 3)

Hereditary angioedema type 3 (HAE 3) is a rare form of hereditary angioedema
characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

Prevalence is unknown as there have been very few reported cases (occurring mostly in individuals of French, German and British descent).

There is no licensed treatment for HAE 3 but bradykinin receptor antagonists and C1-INH concentrate have been successful in several cases. Prophylaxis with tranexamic acid is more likely to prove effective than danazol.

The onset of symptoms in adulthood is significantly higher in patients with HAE type III

[b]So far the diagnosis of HAE type III is conducted by clinical criteria, therefore there are no laboratory tests to confirm it.

In cases of suspected genetic mutation with the HAE and FXII, the diagnosis requires a confirmation of the mutation, reproducible only in research centers.

It is well recognized that corticosteroids, antihistamines and epinephrine are not useful.

The therapeutic experience of this "new" type of HAE is limited because there are no well-controlled studies.