Familial HLH: Stem Cell Transplant Saves Life Of 13-Year-Old Boy With Fatal Genetic Disorder

The child was first treated with chemotherapy, followed by the stem cell transplant. Get to know more about Familial HLH and its signs and symptoms.

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Written By: Longjam Dineshwori | Updated : January 17, 2023 10:45 PM IST

Stem cell transplantation (SCT) has been a lifesaver for many people with genetic disorders. The procedure also saved the life 13-year-old boy who was diagnosed with a fatal genetic disorder called Familial HLH (hemophagocytic lymphohistiocytosis).

The child was admitted at Yashoda Hospitals Secunderabad with complaints of fever, low blood count, and enlarged liver and spleen. After multiple tests and a genetic workup, the child was diagnosed with Familial HLH. This genetic disorder causes excessive production of T cells, natural killer cells, B cells, and macrophages, which are all types of activated lymphocytes (histiocytes). Additionally, it leads to an excessive production of cytokines and immune system protein.

Treatment of Familial HLH

Post-diagnosis, the doctors at Yashoda Hospitals knew that the immediate actions were chemotherapy and a stem cell transplant, but recurring infections like colitis (inflammation of the large intestine) and pneumonia posed a challenge for them to start the procedures. Another challenge they had to face was finding an HLA matched donor for the kid. The child's mother was a half match, but this is a highly dangerous situation because it raises the likelihood of mortality, the doctors said.Nevertheless, the doctor went ahead, and it turned out to a huge success.

Once the chemotherapy treatment was over, the stem cell transplant was successfully conducted by Dr. Karuna Kumar, Consultant Hematologist, Hemato-Oncologist & Bone Marrow Transplant Physician.

Let's hear it from the bone marrow transplant expert

Dr. Kumar commented, "This case carried a high level of danger and a higher likelihood of death. We ran into a lot of obstacles during the case. Recurrent illnesses plagued the child and finding a match proved to be difficult. He suffered mucositis and a fever that persisted during the procedure. The blood count did not increase right away after the transplant, but with certain supportive therapies, it recovered nicely after 20 days. After numerous follow-up treatments on the patient's 100th day, we were finally certain that the procedure was successful as the patient's blood was gradually replaced by the mother's blood. We are quite happy to report that the child has been treated and is now leading a completely normal life."

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