Understanding Angioedema: Acquired or Genetic?
- A 29-year-old woman - Elevated estrogen leads to angioedema episodes - No history of angioedema prior to adulthood and the use of oral contraceptives I have recently received my blood test results: - C1 is deficient - Normal C1q levels - Normal levels of C3 - Deficient C4 - Absence of antibodies against C1 - Genetic analysis indicates it is not hereditary but acquired. I've come across various interpretations regarding my condition. Some sources suggest genetic tests may not be entirely accurate and that there could be an undiscovered variant causing my symptoms. Additionally, I have learned that individuals with acquired angioedema (AAE) typically present with low C1q levels and the presence of antibodies against C1, both of which I lack. Essentially, my lab results suggest a resemblance to hereditary angioedema (HAE), yet the genetic assessment asserts otherwise. Could any medical professionals provide clarity on this situation? Is the genetic testing reliable? Has anyone else experienced AAE, considering its rarity?
Answers (1)
7/17/2025, 8:31:04 PM
OpenHealth AI
It sounds like you are navigating a complex situation with your angioedema diagnosis, particularly regarding whether it is acquired or genetic. Here’s a summary and guidance to help clarify your concerns.
Main Points
- Your lab results suggest findings characteristic of hereditary angioedema (HAE), but genetic testing indicates it is not hereditary.
- Acquired angioedema (AAE) is often linked with low C1q levels and the presence of antibodies against C1, both of which you do not have.
- There may be complexities in your case due to genetic or biochemical factors that are not fully understood.
Explanation
Angioedema is swelling that occurs beneath the skin, often triggered by allergens, medication, or (in your case) hormonal changes. Your results show:
- C1 deficiency: Commonly associated with HAE.
- Normal C1q: This suggests that your body is not producing certain antibodies that would typically point towards AAE.
- Normal C3 and deficiency in C4: This can suggest a complement pathway issue but is less frequent in typical presentations of either type of angioedema.
The discrepancy between your genetic results and the lab findings does raise questions about the completeness or specificity of the genetic tests. Some rare cases of hereditary angioedema may involve mutations that current testing doesn't detect, known as "unidentified variants."
Next Steps
-
Maintain a Symptom Diary: Track your angioedema episodes, their triggers, and associated symptoms. This information can be vital for understanding patterns.
-
Consult with a Specialist: If you haven’t yet, consider following up with a specialist in immunology or a geneticist who can offer deeper insights. They may suggest additional testing or a re-evaluation of your genetic tests.
-
Hormonal Monitoring: Since you mentioned that elevated estrogen has led to episodes, discuss with a healthcare provider the possibility of monitoring hormone levels and reviewing oral contraceptive options.
-
Educate Yourself: Stay informed about angioedema. Reliable sources include medical journals and reputable health organization websites. This knowledge can empower you while discussing your concerns with healthcare providers.
-
Support Groups: Connect with others experiencing angioedema, whether through online forums or local support groups. Sharing experiences may provide comfort and insights.
In summary, your situation is understandably confusing given the mixed signals from testing. Prioritizing monitoring your symptoms and ensuring you have a medical team that understands both your condition and your concerns is crucial. Let me know if you have more questions!
Related Questions
Concerns About My Toes
Age: 30, Female Currently, I am on the lookout for a reputable podiatrist in my vicinity. However, I've encountered a perplexing issue with my foot. Just last night, I noticed a growth on the side of my toe, something entirely new to me. I maintain a nutritious diet and have a demanding job that requires me to be on my feet quite often. My footwear includes brands such as Brooks Ghost Runners, Hoka Bondi 9’s, and Nike Motiva’s, and I don’t opt for restrictive socks. I also apply Vick’s Vaporub to my feet, a practice handed down from my family, and stick with simple, non-fragrant lotions like Vanicream and CeraVe SA Cream for my skin. In addition, I am curious about the my big toenail's change in color. What might be the underlying reasons for this? Also, I have these persistent dark spots on my toes that I've struggled with since my days on the runway. Despite my efforts, nothing has succeeded in lightening or diminishing their appearance. I'm just looking to determine if there might have been a factor from the past that could have contributed to these issues. I’m not sure what else to include, but I’m open to answering any questions you might have. Thank you for your attention! Best wishes from a worried soul!
Strange Jelly-Like Substance Observed from Wound
I’m a 21-year-old female living with an auto-inflammatory condition known as hidradenitis suppurativa (HS). Recently, I've experienced a concerning issue with one of my wounds. This particular wound causes significant pain and excessive bleeding. However, whenever I attend to it, I tend to find this unusual jelly-like substance present within it. Interestingly, this phenomenon has only occurred with this one wound and not any of the others I have. The bleeding seems to persist until I manage to remove this jelly substance, after which it typically slows down and comes to a halt completely. I’m seeking insights into what this might signify so that I can effectively discuss it with my healthcare provider.
Battling Chronic Nausea and Vomiting for Over Two Years
For the past two years, I (age 26, female) have been enduring an incredibly challenging health situation. I experience intense nausea daily and find myself vomiting numerous times, with almost nothing providing relief. To provide some background, I’m from West Texas and I currently weigh around 190 pounds, standing at 5’7”. Initially, my weight was about 211 pounds when these symptoms began, and it fluctuates frequently between 190 and 225 pounds. I engage in vaping and consume THC. Previously diagnosed with hypothyroidism, my condition seemingly resolved, according to my healthcare providers. Additionally, I have polycystic ovarian syndrome (PCOS). I have consistently faced irregular bowel movements, with stools that are loose and sometimes appear to have mucus. Compounding my struggles, I've also suffered from migraines. I have had an IUD for over five years, experiencing two insertions of the Kyleena device. In December 2022, my battle with health took a severe turn when I was diagnosed with stage 4 Hodgkin’s Lymphoma, requiring chemotherapy treatment, specifically AVBD (Apologies for not recalling the exact medication names). By July 2023, I had fortunately achieved remission. However, after reaching remission, my vomiting worsened, transforming from primarily white foam to a mixture of 80% bile, any food I attempt to consume, and still white foam. This intense vomiting, accompanied by significant pain in my upper back, escalated to more than eight episodes daily by November 2023. At that time, THC seemed to be the only avenue for me to retain any food. During this tumultuous period, I consulted various doctors who, after confirming I wasn’t pregnant, attributed my symptoms to Cannabinoid Hyperemesis Syndrome (CHS). Immediately, I ceased THC consumption for over six months, yet the vomiting continued unabated. Each time, doctors would prescribe ondansetron, regardless of my claims that it provided no relief. I experimented with various diets recommended by medical professionals, but there were no improvements in my condition. Eventually, I obtained a referral to a gastroenterologist who intended to perform an endoscopy. However, the procedure was prohibitively expensive even with insurance, and thus was never conducted. This doctor also ordered blood tests to rule out several gastrointestinal disorders, such as Crohn's disease, Irritable Bowel Syndrome (IBS), and gluten sensitivity, but all results came back normal. Afterward, I had another appointment with a different gastroenterologist, but the doctor failed to meet with me. Instead, a nurse informed me that the doctor had merely recommended promethazine without conducting any tests or scheduling further visits. When I mentioned the possibility of gallbladder issues, the doctor laughed dismissively at my suggestion. Discussing my situation with my oncologist, he suggested that my heightened sensitivity to food odors stemmed from my chemotherapy experiences while I was working in fast food. While food smells indeed affect me, I'm primarily triggered by medical scents such as rubbing alcohol and cleaning agents. This ongoing ordeal has been overwhelmingly distressing. I now experience episodes of vomiting accompanied by bright red blood, presumably due to a throat tear. When I first encountered this troubling symptom, I consulted a doctor who appeared unfazed and prescribed a promethazine suppository, which does help but makes me extremely drowsy. My nausea persists nearly around the clock, often feeling as if there’s a heaviness in the upper part of my abdomen. I frequent urgent care facilities when my symptoms intensify, only to be met with minimal assistance since this is a chronic issue. Currently, I lack a primary care physician. Whenever I sought one, I encountered skepticism regarding my condition, with some healthcare professionals implying that I was exaggerating my symptoms. Though many physicians who do take my situation seriously seem baffled, I've lost count of the diverse medical experts I've consulted about these ongoing issues. If anyone has insight or suggestions, I would genuinely appreciate it. I can share my latest bloodwork results if that would be helpful—just let me know!
Strange Stomach Sensation Leading to Waking Up
Greetings. I'm a 36-year-old male, standing at 172 centimeters and weighing 90 kilograms. I don't take any medications, nor do I smoke. I've been living with diastasis recti for several years now, and I may also have irritable bowel syndrome (IBS). Additionally, I deal with fatty liver and kidney stones, though I assume these last two conditions are not related to my current concern. Occasionally, I experience a peculiar sensation that jolts me awake; it feels like a quick pulsing in my stomach. I’ve noticed it tends to affect the left side when I’m lying on my left side and the right side when on my right. Remarkably, it can occur even when I’m on my back. This strange feeling often escalates into a surge that fully rouses me. Alongside this, I sometimes feel prickling sensations throughout my body and fleeting lightheadedness. When this sensation disturbs my sleep while I’m turned to my side, shifting onto my back or the opposite side might alleviate it, but not always. In instances where I awaken while lying on my back, I discovered that gently pressing my hands on either side of my stomach can help, as can rising to a sitting or standing position. However, during my last two episodes—one a couple of weeks ago and another tonight—those techniques weren’t effective right away, which made me feel a bit anxious, prompting me to seek advice. Does anyone have insight into what might be going on? By the way, I’ve undergone routine ultrasound examinations of my abdomen by two different physicians during check-ups, both of whom assured me that everything appears normal, including my abdominal aorta and internal organs. They didn’t identify any issues at that time.
Swelling Beneath My Chin Near the Jawline
18-Year-Old Male: I'm reaching out to any medical professionals who might provide insights into my situation. I've been using marijuana since I was 14, but now, at 17, I'm making an effort to stop and have been clean for 18 days. Recently, I've discovered an unusual swelling located just beneath my chin, behind my jaw. It causes some discomfort when I move, yet it doesn’t feel painful continuously. I'm somewhat anxious that this could be indicative of a more serious issue, especially considering it's positioned near my chin's lymph nodes. Any advice or information would be greatly appreciated as it might help alleviate my worry.