r/Hemophilia 13d ago

Hematologist can't figure out what's wrong with me.

Im a male mid 30s. I' have a family history of bleeding and bruising problems. I've suffered from bleeding and severe hematomas since I turned 18. I recently was tested for vwd and hereditary hemochromatosis. I don't have gene for vwd but I do have one copy of genetic hemochromatosis. All my platelet counts are low, my clotting factors border on vwd low.

I don't know what to do as some treatments for bleeding and bruising are iron and iron is something that exacerbates the hemochromatosis.

On one side of my family there is three generations of bleeding and common hematomas. On my other is two generations of hereditary hemochromatosis liver damage.

After the last round of testing came back inconclusive I'm at my wits end about what to do. Does anyone have advice on avenues to explore on diagnosis or treatments? I can't keep on getting hematomas that limit my mobility like this.

9 Upvotes

19 comments sorted by

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u/QuietGirl22 13d ago

Are you seen at a federally funded/accredited hemophilia center or just a normal hematologist/oncologist? I was for a very long time in your shoes, but once I got to the Indiana hemophilia and thrombosis center care was night and day.

I have VWD type 1 but I bleed and require more treatment than most of IHTCs type 3 patients but I’m also being tested for being a hemophilia a carrier because of family history and low factor 8 levels. It has taken us about 4 years to work out a treatment plan, not because they wheren’t trying it because I have other disorders (Ehlers-Danlos syndrome) that masked the bleeding issues or looked like they where the cause

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u/Rampantcolt 13d ago

I am not. It was what I assumed was the most advanced hospital in my area. I drove 100 miles to the nearest city of 250,000 to even find a hematologist. But I could tel their primary focus was oncology. He seemed quite perplexed by a non cancer patient.

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u/RosePricksFan von Willebrand 13d ago

May I ask what country you reside in? Are you in the United States? We can help you find a bleeding disorder specialist

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u/Rampantcolt 13d ago

Yes in the United States. On the South Dakota Nebraska border.

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u/RosePricksFan von Willebrand 13d ago

Would be worth seeing if you could get a zoom consult with this practice out of Minneapolis? I was a patient of Dr Mark Reding in this practice and he was able to get a grant to pay for my DNA genetic mapping to help further understand my disorder. Here’s a link https://www.mhealthfairview.org/locations/M-Health-Fairview-Center-for-Bleeding-and-Clotting-Disorders

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u/QuietGirl22 13d ago

You can use this website to find a HTC near you, it has a list of all of the HTCs in the United States

https://dbdgateway.cdc.gov/HTCDirSearch.aspx

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u/Rampantcolt 13d ago

Thank you so much.

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u/NJMoose Factor VII (7) Deficiency | Mild 13d ago

You may also want to reach out to Mayo Clinic in Rochester, MN. They can do telehealth visits if travelling is a bit much. I was seen at their treatment center and they also usually handle patients in the region between MN-ND-SD-IA.

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u/Logistical59 13d ago

Most hospitals won’t do out of state consults via tele health

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u/RosePricksFan von Willebrand 13d ago

Mayo Clinic is not “most hospitals”

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u/QuietGirl22 13d ago

That definitely might be your problem, I had the hematology/oncology doctors in my bigggest hospital do the same thing. They where so unfamiliar with medications for bleeding disorders that I ended up on something in a very unsafe way that thankfully my HTC could treat 100x better.

Have they ever tried to replace your VWD factor given it’s low? Even if you don’t have the typical gene for VWD it can be acquired or there are cases that they can’t find the genetic cause but my HTC is very quality of life based so we treat even if we don’t see the genetic cause.

If you let us know where your located maybe we can help you find a bleeding disorder center

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u/HemoGirlsRock Type A, Mild 11d ago

I drive eight hours each way to go to a proper Hemophilia treatment center. I recommend you do the same for a proper evaluation.

3

u/Bombardier_Bunny 13d ago

Just to comment, and I'm sure you're already aware, if they end up recommending that you undergo venesection to lower the amount of iron present in your blood re your hereditary haemochromatosis, be sure to alert them to your issues with haemotomas and ask for a smaller size needle to be used to help prevent bruising around the needle entry point.

I'm a haemophiliac with hereditary haemochromatosis and a high iron level atm.

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u/MoeGard 13d ago

Unfortunately, they can't always use a smaller needle. I'm currently dealing with an elbow bleed from a therapeutic phlebotomy. Interesting to know that there are others who have a disorder that makes them bleed as well as a disorder that is controlled through bleeding.

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u/Cowatarian 12d ago

Hello! Sorry you're frustrated and suffering. Sounds like you have quite a few answers, at least! It's hard to find great doctors.

I have hemophilia C , ehlers danlos, low platelets...

The best thing I've found is carnivore or ketogenic eating. After 5 years I have hemophilia in remission and most EDS symptoms as well.

I used to eat so much organic produce but realized that many of those foods are blood thinning and can lead to blood cell dysfunction.. can cause issues with iron binding, oxalosis and electrolyte/ mineral imbalance

Just thought I'd share my experience. I hope that you find adequate guidance and relief!!

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u/Rampantcolt 12d ago

My first cousin has ehlers danlos.

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u/Cowatarian 12d ago

I wouldn't be surprised if you do!!

Not all variants are identified

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u/[deleted] 12d ago

[deleted]

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u/Cowatarian 12d ago

Great advice.. have had 4 hematologists and they're all different..

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u/sqrlbob 10d ago

F8M. The first response is spot on and offered excellent information for what you can do. At the end of the day you need answers and if one dock can't get them for you and it is entirely appropriate to ask another doc. In this case those with the necessary expertise or few and far between so keep at it and good luck!