“To date, very few PKD patients have underwent stem cell transplantation, mainly because of the significant side effects. It’s therefore very difficult to draw conclusions on the benefit of this treatment.”
Dr. Richard Van Wijk, University Medical Center, Utrecht

What is a stem cell?

A Stem Cell is a primitive, unripe cell within the body that will grow into other cells. A stem cell can divide itself into more stem cells or can produce blood cells like the red blood cells, white blood cells and platelets. The stem cells that develop into blood cells are mostly situated in the bone marrow (a spongy tissue in the interior of bones), but some of them also flow through the bloodstream.

(Source: http://www.hematologienederland.nl/stamceltransplantaties )

The stem cells are very important, because they are the source of all the other cells in the body. In the case of a person with Pyruvate Kinase Deficiency, the sick stem cells  will pass on the Pyruvate Kinase Deficiency to all the cells they will grow into. They are the source of the problem. For that reason a stem cell transplant can be a cure, but it is not a very common one.

“There is currently no treatment available that can actually cure PKD, apart from stem cell transplantation. Treatment for PKD patients generally consists of blood transfusions, splenectomy, and iron chelation therapy to prevent organ damage from iron overload.”
Dr. Richard Van Wijk, University Medical Center, Utrecht

What is a stem cell transplant?

The procedure of a stem cell transplant is a very risky one. First all the stem cells of the body need to be destroyed. To achieve this, the doctors use chemotherapy designed for that purpose.

When the own stem cells are gone, new stem cells are transfused into the body. This procedure is a very similar to receiving a blood transfusion.

After the new stem cells have entered the body they need to place themselves in the bone marrow and start making new blood. This can take some time and in those critical days the patient needs to be in isolation to avoid getting infections the body can’t fight.

Stem cell transplant in people with Pyruvate Kinase deficiency

“We report the first successful use of Bone Marrow Transplant (BMT) for the treatment of red blood cell Pyruvate Kinase (PK) Deficiency in a boy who developed neonatal jaundice and severe transfusion-dependent hemolytic anemia a few months after birth. He received a BMT at the age of 5 from an HLA-identical sister who has normal PK activity after conditioning with busulfan and cyclophosphamide. The post-transplant course was uneventful. At present, 3 years after transplant, he is 8 years old and has a normal hemoglobin level and normal RBC PK activity without evidence of hemolysis. DNA analysis has confirmed full engraftment.”
Tanphaichitr et al., Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplantation. 2000 Sept;26(6): 689-90

The case described above, is the only case of a stem cell transplant to cure Pyruvate Kinase Deficiency that has been reported in scientific literature worldwide.  This particular case succeeded because the two siblings were a perfect match and the child was not affected by the Pyruvate Kinase Deficiency other than having a low Hemoglobin.

In the Netherlands, a stem cell transplant has been done on a female with severe Pyruvate Kinase Deficiency some years ago. Although the woman was cured, her body was too weak and her body was unable to accept the new stem cells. A few months after the transplant she couldn’t fight the infections anymore, she passed away soon after that.

So although a stem cell transplant is a possible cure, the risks are big and the treatment is not the first choice for many doctors.

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