Guidance Needed on Genetic Test Allele Interpretation
Demographic Information: 22-year-old female, weighing 114 lbs, height 5’5”. Current medications include Xywav, FluvoxaMINE, bupropion XL, modafinil, and propranolol (as needed for anxiety). Diagnoses include idiopathic hypersomnia, borderline personality disorder, OCD, and treatment-resistant persistent depressive disorder with episodes of major depression and anxiety. Hello, I underwent genetic testing focused on the HLA-DQB1 allele a few years ago after consulting with a specialist in narcolepsy. The results indicated that I do not possess the typical narcolepsy allele pattern, leading me to believe I have idiopathic hypersomnia instead. However, I often question whether there could be a distinct cause behind my symptoms rather than a vague "we don't know" diagnosis. I have noticed that I have several unusual genetic traits and I'm interested in exploring research regarding my specific alleles. I hope to find information that could be useful to discuss with my doctor. However, I’m uncertain if I'm interpreting my alleles correctly. I think they may be listed as HLA-DQB1*0203, but I want to verify this. Since the blood test was conducted some years ago, I prefer not to trouble my doctor for clarification in between our appointments. Below is the information from my MyChart page, which might help clarify. - Specimen type: Blood - Testing method: SSOP - HLA-DQB1* — value: 02 - HLA-DQB1* — value: 03(9) - Notes: The patient tested NEGATIVE for the narcolepsy-related antigen/allele: HLA-DQB1*06:02 I refer to my genetic traits as "unusual" because both my father and I possess relatively rare genetic anomalies—my traits being more pronounced. For instance, I have complete immunity to caffeine and numbing agents; I’ve even undergone dental procedures without anesthesia since it lacks effectiveness on me. Additionally, I face treatment-resistant depression, a familial history of autoimmune diseases (often linked to narcolepsy), no sensitivity in my lower back despite normal MRI results, and some unique enzymes identified in separate genetic panels that aren’t relevant to this discussion. As a neuroscience researcher pursuing a PhD, I find these aspects intriguing and am skilled at interpreting scientific literature. I am actively engaging in this exploration rather than recklessly searching for a self-diagnosis online. I collaborate with a specialist who is eager to discuss potential explanations and paths we can pursue together.
Answers (1)
9/4/2025, 11:30:56 PM
OpenHealth AI
It’s great to hear about your proactive approach to understanding your health and your genetic testing results. Given your specific situation and the complexities involved, let’s break this down into key points and actionable steps.
Main Points
You have undergone genetic testing related to your HLA-DQB1 alleles, which suggested that you do not have the typical genetic pattern associated with narcolepsy, leading to a diagnosis of idiopathic hypersomnia. You are eager to explore the significance of your alleles and their connection to your symptoms, particularly as they relate to your family's health history and personal experiences.
Explanation
The HLA-DQB1 gene is associated with immune system function and can be relevant in various autoimmune disorders, and also influences sleep regulation. It’s understandable to seek clarity around your HLA-DQB1 alleles, especially given your unique health experiences, including treatment-resistant conditions and unusual responses to anesthesia.
From the information you provided, it appears that your allele readout is indeed HLA-DQB102 and HLA-DQB103. The absence of the HLA-DQB1*06:02 allele is significant, as its presence is often found in patients with narcolepsy. Your interest in genetic traits, particularly those that correlate with immune response and neurological function, is a pertinent area of research, especially as it concerns your symptoms and family history.
Next Steps
-
Collect Detailed Genetic Information:
- Gather all your genetic test results and any notes from consultations you’ve had. This will help form a comprehensive view of your genetic background and how it relates to your symptoms.
-
Literature Review:
- Use your research skills to explore peer-reviewed studies on HLA-DQB1 and its relation to neurological disorders, hypersomnia, and autoimmune diseases. Look for studies involving unique traits associated with caffeine metabolism and anesthesia resistance, as these may hint at underlying genetic variations.
-
Prepare for Your Discussion:
- Based on your findings, compile a list of questions and points you wish to discuss with your doctor during your next appointment. Be clear about what specific aspects you wish to explore further—this can include potential therapies, additional tests, or lifestyle modifications.
-
Document Your Symptoms:
- Keep a detailed log of your symptoms, including any correlations with specific activities, foods, or stressors. This may provide useful insights to share with your healthcare provider.
-
Consider Lifestyle and Diet:
- Since you mentioned complete immunity to caffeine, evaluate your daily habits and dietary intake that could affect your energy levels and overall health. Consider maintaining a consistent sleep schedule, and practice good sleep hygiene to manage your hypersomnia.
-
Stay Informed and Engaged:
- Continue your collaboration with your specialist and seek out forums or professional networks dedicated to research in idiopathic hypersomnia and related genetic conditions. Engaging with the research community can lead to new insights and understanding.
Your desire to delve deeper into your genetic information and its implications for your health is commendable. Remember, the journey of understanding your health is often gradual, and it’s completely valid to seek clarity and answers along the way. Let me know if you have further questions or need more assistance in any specific area!
Related Questions
Chronic Joint Pain Since Childhood
Since I was eight years old, I’ve endured intense and persistent pain in my joints. Initially, the discomfort was primarily in my knees, characterized by a sharp sensation right beneath the kneecap. As someone on the autism spectrum, I often visualize a strange, soothing thought: the idea of removing my kneecap and using an ice cream scoop to relieve the pressure underneath it. My parents sought help from several medical professionals, all of whom attributed my symptoms to growing pains. I even underwent cancer screenings at the age of nine because doctors felt my level of discomfort was excessive for mere growing pains. At school, I frequently had to wear dual knee braces. When I turned 14, I had a CT scan, but the results were inconclusive; doctors continued to insist it was just growing pains. At 18, I had an X-ray that also revealed nothing abnormal. Now at 20, my joint pain persists and is progressively worsening. My hands now ache in addition to my knees, and on particularly bad days, the pain radiates down to my ankles, making walking and sleeping almost impossible for half the week. The discomfort has entirely hindered my ability to work. My family and I strongly suspect that I may have some form of arthritis, but I struggle to convince the medical community of this due to my young age. My father, who suffers from arthritis himself, often empathizes when I express my pain, telling me, "that sounds familiar." I have broken down in front of numerous doctors, pleading for assistance, yet I consistently leave without answers, only to be scheduled for more scans that come back normal. The medical care I have received thus far has been far from satisfactory; for instance, I was prescribed eye drops that nearly resulted in serious damage to my vision when I consulted an eye specialist. This is just one of many frustrating experiences I’ve faced. I feel completely overwhelmed and in agony, and I have no way to reach out for specialized medical help since my only means of transportation is my father, who is also afflicted by arthritis. I feel lost and in deep pain without a clear path forward.
Seeking Guidance on Persistent Chest Discomfort After Extensive Testing
I'm a 43-year-old male, standing at 5'11" and weighing 180 pounds. My journey began around March to April of 2025 when, despite regularly hitting the gym four times a week, I was struck by severe chest pain along with frequent belching and a tight feeling in my diaphragm. At times, the pain became so intense that I feared it might be a heart attack. **Medical History:** In May 2019, I received a diagnosis of **PVS** and have since been under the care of a cardiac electrophysiologist. Upon experiencing these new symptoms, I consulted my EP, who conducted an EKG right then and set me up with a 7-day heart monitor. The results showed no irregularities. Subsequently, I was directed to a cardiologist, who carried out both a **stress test** and an **echocardiogram**, both of which yielded normal findings. Afterward, I returned to my primary care physician, who speculated that my gallbladder might be involved. An **ultrasound** was performed but revealed no issues. I then requested a **chest X-ray**, which also came back normal. My PCP then considered the possibility of a **hiatal hernia** and referred me to a gastroenterologist; unfortunately, that appointment took almost **five months** to materialize. In the meantime, my symptoms persisted, prompting me to cease weightlifting and switch my focus to **cardio and running**. Surprisingly, these activities didn’t exacerbate my symptoms, though the chest pain remained constant. When I finally saw the gastroenterologist, they suggested an **upper endoscopy**, which took another roughly three months to arrange. During this procedure, I was diagnosed with **Eosinophilic Esophagitis (EOE)**, a condition I had not previously experienced. The doctors also placed a pH monitoring device for acid reflux assessment, which indicated **no unusual acid exposure**. Following this, I began a treatment plan that included a swallowed steroid inhaler and an increased dosage of **omeprazole**. Sixty days later, I underwent another endoscopy, which showed that the EOE had largely resolved, with minimal residual symptoms. Unfortunately, my chest discomfort persisted without any improvement. It has now been about **a year** since these issues emerged, and I still have not found substantial relief. A recent chest MRI completed at a dedicated imaging center revealed no abnormalities. I entertained the idea of **costochondritis**, but again, the MRI did not support that hypothesis. The only minor relief I find comes from consciously pulling my shoulders back and expanding my chest. I continue to experience discomfort around my **diaphragm** and tenderness in the area of the **xiphoid process**. My PCP prescribed a steroid pack, which was somewhat beneficial for the pain but failed to alleviate the pressure or constant discomfort. At this juncture, I feel quite lost and uncertain about my next steps. I would greatly appreciate any insights or experiences from others who have faced similar issues. Additionally, if there are any physicians here willing to offer advice, I am open to traveling to find the answers or relief I'm desperately seeking.
Understanding Mild Uncomplicated Diverticular Disease
I am a 29-year-old female, standing at 5'7" and weighing 130 pounds. Recently, a CT scan revealed that I have mild diverticulitis. About a week ago, I experienced significant discomfort, particularly in the pelvic region, along with pain in my right leg and hip, and some mild discomfort on the left side. After undergoing a CT scan, which confirmed the presence of mild diverticular disease, I was surprised that no one from my medical team provided any follow-up or acknowledged the condition. My blood tests returned normal results, and I was discharged without further information. While the pain subsided after about three days, it has unfortunately reappeared four days later. Is this something I should be worried about? What does this mean for me? I had a colonoscopy around 11 months ago, which indicated no issues.
Concerns After Gallbladder Surgery (Three Weeks Post-Op) - Is It an Infection?
Profile: - Age: 35 - Gender: Female - Height: 5 feet 4 inches - Weight: 160 pounds - Ethnicity: Asian Duration of Symptoms: Last Three Weeks Location: United States Recent Medical History: Nearly three weeks have passed since my gallbladder removal surgery. Over the last few days, I've noticed a small amount of unclear fluid coming from the incision. I just observed what seems to be pus oozing from the surgical site. Although there is slight tenderness when I move or touch the area, it isn't painful. Thankfully, I haven’t experienced any fever or chills, and there’s no unpleasant odor emanating from the wound. Should I continue to clean it with soap and water, or is it necessary for me to visit the emergency room for further evaluation?
Seeking Clarity on My Spinal Tap Results: A Bit Anxious
I am a 31-year-old woman experiencing a continuous headache for the past four months, accompanied by feelings of nausea and exhaustion. I take Lexapro each day to manage my mental health. I have a history of migraines and headaches, but this recent episode doesn't align with my previous experiences. Here are the findings from my spinal tap: - **Opening Pressure of Cerebrospinal Fluid (CSF)**: 9 cm H₂O - **Presence of Red Blood Cells (RBCs) in CSF**: 2,570 - **Total Protein Level in CSF**: 107 mg/dL - **ACE Level in CSF**: 4.4 - **Other Tests on CSF**: Results were normal. - **Brain MRI and MR Venography**: Both tests yielded normal results. - **Blood Test Results**: Normal results were obtained. Given these results, I'm feeling a bit uneasy and I’m hoping to better understand what they might indicate about my health.