Genetic testing raised questions about my bleeding disorders

I eagerly anticipate a future where inherited bleeding disorders can be fully diagnosed, with absolute certainty, through genetic tests.

Currently, conditions such as von Willebrand disease (VWD) pose diagnostic challenges, often requiring multiple tests over long periods of time for confirmation. Although my initial diagnosis came after a test, the inconsistency of my various levels from below normal to below normal was confusing. Also, the guidelines have changed a few times since my diagnosis regarding what constitutes a “normal” cut.

Diagnosing hemophilia can be easy if it runs in the family. However, for someone like me, with no family history, the revelation of such a condition can cause severe shock and surprise.

These circumstances led me to impostor syndrome, which made me question the unlikely occurrence of not one but two rare bleeding disorders in my lifetime. Doubts about the accuracy of my diagnoses sometimes arise in my mind, prompting me to reflect on my many instances of unusual bleeding and medical professionals expressing surprise at its severity.

I’m not crazy, I always tell myself.

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The genetic test brought a surprise

After considering genetic testing to clarify, I opted for whole genome sequencing. The processing time exceeded six months, but the results were enlightening. The identified genetic mutation they found for me explained my low factor IX levels and confirmed my hemophilia B diagnosis. But genetic testing also revealed an unexpected discovery: Glanzmann thrombasthenia, a lifelong, extremely rare, and potentially fatal bleeding disorder.

Surprisingly, genetic testing did not confirm a genetic mutation for VWD, which raises the question in my mind of a potential misdiagnosis. Discussions with my hematologist revealed that Glanzmann, which was detected because I have two recessive copies of the mutation, does not explain my low level of VWD, and science has not yet identified all the genetic variants for VWD. Because of this, I found myself facing the possibility of a third rare bleeding disorder.

My big question is, ‘Does it matter?’

After 58 years with VWD and hemophilia, I finally find myself in a positive place about my bleeding issues and the treatment I receive. It took time, but I felt pretty confident in my care and my ability to manage the bleeds.

However, the potential diagnosis of Glanzmann thrombasthenia sparked further interest from my hematologist, prompting my recent visit to my hemophilia treatment center in Tampa, Florida. To help verify this possible diagnosis, several vials of my blood were taken for extensive testing, and the samples were sent to reputable institutions, including the Mayo Clinic in Minnesota.

In line with my goal of continuing research, one of my vials of blood was directed to the American Thrombosis and Hemostasis Network’s ATHN 10 study. This unique initiative offers complimentary genetic testing for those diagnosed with rare bleeding disorders. Its main purpose is to improve both genotypic and phenotypic data related to the population facing rare coagulation disorders, as the ATHN 10 capsule states on the organization’s website.

The collective efforts of these studies hold great promise for improving our understanding of these conditions and ultimately improving diagnostic precision in the coming years.

A possible change in treatment

In discussing the potential results, my hematologist explained that if the results did indeed confirm Glanzmann thrombasthenia, my treatment plan would include increasing platelets and/or NovoSeven. The prospect of this regimen, added to my current treatments, seemed terrifying. The discussion surprised me, with questions about the accuracy of the test leading to this potential diagnosis.

Encouragingly, other results came back, and they did not fully support a Glanzmann diagnosis. A definitive conclusion will likely come with comprehensive test results from the Mayo Clinic and additional genetic testing. And that could take several months.

Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your doctor or other qualified health care provider with any questions you have about a medical condition. Do not ignore professional medical advice or delay seeking it because of something you read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, BioNews, and are intended to stimulate discussion about issues surrounding hemophilia.

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