Unraveling How a Hemophilia Diagnosis Went Undetected for 60 Years

Episode 5


It was supposed to be a simple, low-risk procedure, but for this 61-year-old patient with undiagnosed hemophilia, undergoing a lithotripsy for kidney stones proved to be anything but. The patient was born in the 1950s in Taiwan, when many people in the country had never heard of the disease. So, despite signs throughout his life, the patient’s hemophilia diagnosis evaded him for decades. Dr. Yeu-Chin Chen, a hematologist at the Tri Service General Hospital’s Hemophilia Care and Research Center in Taipei, Taiwan, shares this patient’s journey and how doctors should be on the lookout for signs of hemophilia, while understanding that symptoms can vary from patient to patient.


Associate Professor, Hemophilia Care & Research Center, Division of Hematology/Oncology, Tri-Service General Hospital ( TSGH ), National Defense Medical Center ( NDMC )

Dr. Chen received his medical training at the National Defense Medical Center in Taipei, Taiwan, and was a visiting clinician for the Special Coagulation Laboratory under the Department of Hematology at Mayo Clinic, Rochester, USA, from 2002-2003. He is currently an attending physician at TSGH and  associate professor of Medicine at the NDMC and serves as the Director or the Hemophilia Care & Research Center at TSGH.



Unraveling How a Hemophilia Diagnosis Went Undetected for 60 Years

Dr. Raj Bhardwaj: This season of DDx is sponsored by Sanofi. The case study you’re about to hear is a real patient story. 

In 2007, a 61-year old man was admitted to his local hospital in Taiwan for a simple procedure. 

He had been diagnosed with kidney stones, and was scheduled to receive lithotripsy, a high energy shock wave — like an ultrasound — to break his large stones into tiny pieces that he could then pass.

Lithotripsy is routine. For most people, it’s low risk. 

But this patient had unforeseen complications because of a hidden disease, one that evaded diagnosis for his entire life.  

Dr. Yeu-Chin Chen: Even mild or moderate hemophilia that goes undiagnosed is dangerous. A patient may develop excessive or even life-threatening bleeding without correct diagnosis before a procedure or surgery.

Dr. Bhardwaj: And that was the problem. This patient had lived his entire life without ever knowing he had a blood disease.

This is DDx, a podcast from Figure 1 about how doctors think. 

I’m Dr. Raj Bhardwaj. 

This season, we’re taking you inside the minds of doctors who specialize in the most common type of hemophilia, Hemophilia A — an inherited bleeding disorder that prevents the blood from clotting properly.

Today’s case is from Dr. Yeu-Chin Chen. He’s a hematologist at the Tri Service General Hospital’s Hemophilia Care and Research Center in Taipei, Taiwan.

Dr. Chen has been compensated by Sanofi for his participation in this episode.


Dr. Bhardwaj: The patient in today’s case didn’t find out that he had hemophilia until he was nearly ready for retirement. All the signs were there since he was young.

But in Taiwan during the 1950s, most people had never even heard of hemophilia. 

So when this patient got his first episode of significant bleeding, his family had no idea what to make of it.

Dr. Chen: One time he had a fall while exercising and got a bad cut over his leg. His parents had to use gauze and compression for several days to try and slow the bleeding. His parents had no idea that this bleeding event was evidence of a big problem or that hemophilia was a disease.

Dr. Bhardwaj: It’s easy to look back and connect the dots after the fact. 

It’s much more difficult to see the big picture when you’re dealing with the problem in real time. 

And if you can’t zoom out, it’s easy to miss the signs which, with a health issue, can lead medical professionals down the wrong path. 

Time and again in this man’s life, he encountered complications that were incorrectly identified.

Like when he got his wisdom teeth removed.

Dr. Chen: He experiences excessive bleeding for about three days during the dental extraction. He asked the dentist why he was bleeding for so long, and the dentist said that the protracted bleeding was due to the root of the extracted wisdom teeth, so there was an early misdiagnosis.

Dr. Bhardwaj: Fortunately, the bleeds this patient suffered early in his life were relatively minor. None lasted for more than a few days. But also as a result of this, no one had ever considered investigating more deeply.

That changed when he had his kidney stones removed. 

The lithotripsy procedure went well and the patient was discharged from the hospital.

But then…

Dr. Chen: There was a persistent hematuria after surgery and a lot of blood in his urine, and it wasn’t going away.

Dr. Bhardwaj: It’s very common to have blood in your urine following lithotripsy — anywhere from a few days to a few weeks. 

Not in this case.

Dr. Chen: The patient has persistent hematuria for six months after his surgery.

Dr. Bhardwaj: He was, understandably, very concerned. 

So he asked his doctor why there was still so much blood in his urine.

Dr. Chen: The doctor, he had no idea what could be causing the bleeding, and he has never seen anything like it before and didn’t know what to do. The doctor couldn’t manage this problem.

Dr. Bhardwaj: He needed help. So he referred the patient to a urologist at Dr. Chen’s hospital.

The urologist performed an array of tests including a urinalysis, a chest X-ray,  a KUB X-ray, looking at his kidneys, ureters, and bladder — all normal. 

He even did an abdominal ultrasound. That came back normal too.

So the urologist did a PT and an aPTT test. These measure how long it takes for blood to clot. 

The results provided a crucial clue.

Dr. Chen: A normal time range from his test is 23.9 to 35.5 seconds. It took the patient’s blood 38.3 seconds to clot. They suspected the patient has coagulopathy, which is impaired clot formation.                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        

Dr. Bhardwaj: The patient was then referred to the hemostasis and thrombosis clinic. 

That’s where he met Dr. Chen. 

Armed with the test results, Dr. Chen knew that the clotting time for this patient was a clue.

He needed to investigate further. 

Dr. Chen: So we run some tests to check his factor levels. We found that his factor VIII (8) level was at 33.7%, which is consistent with people with mild hemophilia.

Dr. Bhardwaj: Finally, an explanation for all of those mysterious, protracted bleeding episodes throughout the patient’s life. 

A diagnosis of hemophilia, for a patient who didn’t even realize he had a disease.

Luckily for Dr. Chen’s patient, he received his hemophilia diagnosis shortly before several more risky, invasive surgeries.

Dr. Chen: These surgeries included bone surgery. But to do them safely, we first needed to treat his hemophilia. We gave him an injection of the factor VIII replacement therapy before those surgeries.

Dr. Bhardwaj: The surgeries went ahead with no excessive bleeding. 


Dr. Bhardwaj: Dr. Chen believes his patient’s hemophilia could have been diagnosed much sooner. 

And because of that, he wants doctors to be on the lookout for signs of hemophilia, while understanding that symptoms can vary from patient to patient.

Dr. Chen: Because hemophilia is a rare disease that impacts one in 10,000 people, most physicians are not familiar with it. It is important for physicians with different subspecialties to be aware of a patient’s bleeding tendency. This is because every patient’s presentation is individualized. They can look different from person to person. They need to be on the lookout for excessive bleeding after an invasive procedure to explore this issue further.

Dr. Bhardwaj: Awareness of a patient’s bleeding tendency is important. But it’s also crucial for doctors to investigate a patient’s bleeding history.

Dr. Chen says that the best way to do that is with a bit of old-fashioned detective work — a strategy, he believes, physicians sometimes omit. 

He says that they rely too heavily on newer methods of investigation.

Dr. Chen: I think doctors often miss important information in your patient’s medical history that could lead to better treatment or diagnosis. This is because the imaging examinations, such as CT scan, MRI scan, and the PET scan are very convenient and easy to access now. This sophisticated image studies cannot substitute for the conventional history taking for correct diagnosis of disease. 

Dr. Bhardwaj: And once you map a patient’s history, there’s more clarity around which tests to choose. But you still need to understand their nuances and limitations.

Dr. Chen: It is common for some patients with mild hemophilia to go undiagnosed. Some clotting time tests can only detect factor VIII below 25 to 30%. This patient was at 33.7%, so he and the other patients with similar levels could be missed. So doctors need to be aware of that.

Dr. Bhardwaj: Thanks for speaking with us Dr. Chen.

This is DDx, a podcast by Figure 1. 

Figure 1 is an app that lets doctors share clinical images and knowledge about difficult to diagnose cases. 

I’m Dr. Raj Bhardwaj, host and story editor of DDx. 

Head over to figure1.com/ddx, where you can find full show notes, photos and speaker bios. 

This season of DDx is sponsored by Sanofi.

Sanofi is a global healthcare company that develops and delivers medicines and vaccines for millions of people around the world. 

Thanks for listening.