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Aurora magazine

Chédiak-Higashi syndrome: what it is and how it manifests itself

Chédiak-Higashi syndrome is a rare genetic disorder that affects the immune system. The disease causes a defect in the phagocytic cells, which fail to process and eliminate bacteria. This causes the appearance of giant lysosomal granules in neutrophils, neural cells and others. All this would be caused by an anomaly in the LYST (lysosomal trafficking regulator) gene.

The accumulation of granules causes a wide range of symptoms in patients. The most evident ones are albinism and the tendency to get sick much more often than average, especially due to respiratory infections. In addition, about 80% of patients experience an accelerated phase of the disease. During this time, the patient suffers from fever, jaundice, increased liver and spleen volume, enlarged lymph nodes. Typically, all of this leads to death in about 30 months.

Diagnosis occurs by analyzing a peripheral blood sample, looking for granules. A bone marrow sample is also examined to check the status of the cellular precursors of leukocytes. Genetic tests are used to confirm the diagnosis given by clinical observations. Usually, it is not necessary to examine close relatives, except in suspicious cases.

To date, the only effective therapy is hematopoietic stem cell transplantation. In these cases, approximately 60% of patients survive five years after transplantation. Without a compatible transplant donor, the prognosis is much more negative: most patients die within 7 years of age. Antibiotics can help prevent infections, but they are not a remedial therapy.