Medical Tests for Lipedema: How Blood Testing Helped Me Discover I have the MTHFR Gene Mutation

There are a lot of medical tests that can help lipedema patients understand and manage their symptoms. In this post, I share a great new resource to help you and your doctor determine what lab tests are right for you and explain my experience doing extensive blood work when my lipedema symptoms flared up last year. Testing even helped me discover that I have the MTHFR gene mutation, which has potentially contributed to my lipedema, lymphedema, and venous insufficiency. Read on or watch the video to learn more.

Note: No, there is no diagnostic blood test for lipedema – yet! I suspect researchers are working hard on one.

Remember, I’m not a doctor or a nutritionist. I’m just a woman with lipedema. I hope that by sharing my story I can help you start a conversation with your health team to untangle your individual needs.

New eBook on Medical Testing for Lipedema

I’m excited to share a great new resource to help you and your doctor better manage your lipedema symptoms.

A Guide to Medical Testing for Lipoedema Management by Megan Pfeffer and Dr. Karen Herbst is so much more than a book about lab tests! It’s a comprehensive guide to understanding and managing lipedema. The 60-page eBook starts out with a description of lipedema and a description of common treatments before moving into a detailed discussion of medical and lab tests for lipedema. It describes symptoms that might indicate doing each test and also includes tips for getting the best results when you go for testing (stop taking some of your supplements a few days before!). There is even a decision tree to help you figure out how often you should consider re-testing.

The eBook is currently FREE on Amazon with a Kindle Unlimited subscription, but don’t worry if you don’t have a subscription. Amazon offers free trials (currently three months!) or you can purchase it outright for about $8 USD. It is a Kindle book, but you don’t need a Kindle to read it. With the free Kindle app you can read it on any device.

Download it now! I don’t want you to miss out on this!

How Blood Tests Helped Me Improve My Lipedema Symptoms

Last year was hard on me and my symptoms flared for seemingly no reason. I gained weight, swelled badly, and started losing hair.

I doubled down on everything that has worked for me in the past – keto, fasting, exercise, etc. – and nothing made a difference. I realized I needed help. I reached out to a nutritionist who specializes in lipedema and she recommended I go for some extensive blood tests. I know many of you are going to ask, so I’m listing the tests I did below. Remember, just like our bodies are unique, the tests we need will also be unique. My nutritionist recommended these based on my symptoms and medical history.

I requested these tests during my annual physical and my doctor initially pushed back because it would “be too expensive.” I asked to do them anyway and am glad I did because it ended up costing nothing out-of-pocket. This was the case both when I had Cigna and after I switched to Care First through Blue Cross Blue Shield. Every health insurance I have ever had has a tool that helps you estimate the cost of specific services and providers. I recommend using it as you decide which tests are right for you (and your budget).

My results came back really good for the most part. There were just two outliers in the long list of extra tests I’d had done. First, my Vitamin D was low. You can read more about why this matters for lipedema patients in the eBook. That was easy to fix with a Vitamin D supplement. The other result that was out of range was my homocysteine, which was high. I asked my doctor what that meant and he shrugged and said, “It means you have inflammation and we’re not surprised by that.” My nutritionist on the other hand said, “I think you have a gene mutation.” Excuse me?

This felt almost as blindsiding as learning about lipedema for the first time. The MTHFR mutation is a genetic condition, so I’ve had it my whole life. And I’m just learning about it now?! Somehow that sounds right given my lifetime experience with medical professionals.

MTHFR Gene Mutation and Lipedema Symptoms

How do you know if you have MTHFR? You get tested. You can go to your doctor or you can do an MTHFR home test kit like I did.

The MTHFR test I took was from MTHFR Doctors and I was really pleased with their customer service. I mailed off a cheek swab and got an email with my results about a week later. There was a small typo in my final results and they called me on a Saturday to make sure I saw the updated report and understood everything. The report also includes a detailed explanation and recommendations for supplement. I discussed my results with my nutritionist, but if you don’t have someone like that in your care team, MTHFR Doctors offers consultations and coaching.

The more I learned about MTHFR, the more it made sense. MTHFR polymorphisms are fairly common (about as common as lipedema for certain ethnic groups) and the mutations inhibit the body’s ability to process and use B vitamins. This leads to deficiencies, which can cause symptoms like fatigue, chronic pain, brain fog, inflammation, and anxiety. The tricky thing is that these deficiencies are often masked. I’d had my B12 and folate tested and, while not amazing, both were in the normal range… because my body was stockpiling forms it couldn’t use, or at least couldn’t use efficiently. The high homocysteine was the only clue. You can read more about symptoms associated with B vitamin deficiencies and how they may impact lipedema in the eBook A Guide to Medical Testing for Lipoedema Management.

In short, the deficiencies caused by MTHFR mutations can inhibit the body’s ability to properly detox, balance hormones, and operate the immune system. Lipedema patients work hard to control inflammation and toxins, hormones seem to have something to do with lipedema, and the lymphatic system is part of the immune system. Am I the only one who sees a connection?!

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While I think MTHFR has been contributing to my lipedema and venous insufficiency symptoms, I want to be clear that not everyone with lipedema has an MTHFR mutation, and not everyone with an MTHFR mutation has lipedema. Like with most things lipedema, there is limited research, but you can read more about MTHFR and lipedema in this Italian study.

The good news, is MTHFR gene mutations are easy to treat. My nutritionist prescribed some new methylated B vitamins and I noticed a difference nearly immediately. Within one hour I had more energy and a bigger appetite. I’ve always heard people say that B vitamins make them hungry, but I’d never experienced it until switching to a form my body can use more eficiently. I started taking Designs for Health B-Supreme about six months ago and about a month ago I added Ortho Molecular SAMe because my folate was still on the low side. What you need will depend on what sort of mutation you have and your current medical status. Make sure you work with your care team before making any changes to your supplements.

Finding out about MTHFR was an important part of improving my health over the past six months, but it was only one piece. My nutritionist also helped me learn more about my food sensitivities and tweak my carbs, which had crept up over the years. Getting individualized help when you need it is important and it’s helped give me back my health. Remember, you are worth the work!

Summary and Conclusion

Too long; didn’t read? Medical testing, including blood testing, can be a useful tool for understanding and managing lipedema symptoms. The eBook A Guide to Medical Testing for Lipoedema by Megan Pfeffer and Dr. Karen Herbst is a great resource to help you and your doctor determine what tests you should take and how often to repeat them. When my symptoms flared up last year I turned to a nutritionist who specializes in lipedema and she recommended a long list of lab tests. These revealed some nutrient deficiencies, one of which was caused (and hidden) by my MTHFR gene mutation. MTHFR mutations can inhibit the body’s ability to process B vitamins, making it difficult for it to detox, balance hormones, and properly run the immune system. Switching to methylated B vitamins made a difference immediately.

Recommended Products

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Share your experience using medical testing to manage your lipedema symptoms below in the comments! Also, share your questions and someone from the community might be able to help. Remember to also check the comments on the YouTube post.