Hyderabad hospital saves 13-year-old suffering from rare genetic disorder

After multiple tests and a genetic workup, the child was diagnosed with the fatal disease.

Familial HLH is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages, which are all types of activated lymphocytes (histiocytes).

Additionally, an excessive amount of cytokines — an immune system protein — is also produced.

This overactivation of the immune system causes fever and damages the liver and spleen, resulting in the enlargement of these organs.

Following diagnosis, the immediate actions were chemotherapy and a stem cell transplant.

However, recurring infections like colitis — inflammation of the large intestine — and pneumonia posed a challenge for the doctors.

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Once the chemotherapy treatment was over, the stem cell transplant was carried out by doctors at the hospital.

According to the hospital, complications arose when the kid did not have an HLA-matched donor.

“The mother of the child was a half-match, but this is a highly dangerous situation because it raises the likelihood of mortality. Nevertheless, the doctors went ahead, and it was a huge success,” said the hospital in a statement.

“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,” said Yashoda Hospitals’ Consultant Hematologist, Hemato-Oncologist & Bone Marrow Transplant Physician Dr Karuna Kumar.

“The blood count did not increase right away after the transplant. It recovered nicely after 20 days with certain supportive therapies,” he explained.

The doctor added that after numerous follow-up treatments on the patient’s 100th day, they 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,” said the doctor.

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