A Family Guide to Non-Oncologic Blood Disorders
Chédiak-Higashi Syndrome
What is Chédiak-Higashi syndrome? Chédiak-Higashi syndrome (CHS) is a rare inherited disease that most often is identified in infancy or early childhood. It is an autosomal recessive disorder, meaning that each parent carries one copy of the defective gene and passes it along to their child. In CHS, immune system cells are damaged and un- able to effectively fight infection. Difficulty with blood clotting also can occur, resulting in frequent bruising and a tendency to bleed easily. Among CHS patients, 50% to 80% are affected by an accelerated phase of the disease, which is triggered by viruses and infections that are not treated successfully. Rapidly dividing white blood cells are a common symptom of acceler- ated CHS. They can invade organ systems, resulting in fever, enlarged liver and spleen, life-threatening infections, bleeding, and organ shutdown. The following are the most common symptoms of CHS. However, each child may experience symptoms differently. Symptoms may include: • Frequent and life-threat- ening infections • Frequent bruising or
What tests and procedures will my child need? • Complete blood count (CBC) test to look at white blood cells, red blood cells, and platelets • Microscopic examination of a blood sample to identify distinct granules found in the cells of CHS patients • Genetic sample for mutations in a specific gene (CHS1/ LYST gene) • Neurological and IQ tests for learning disabilities • Bone marrow biopsy, if necessary What are the treatment options for CHS? • Hematopoietic stem cell treatment (HSCT) • Antibiotics and antiviral medications to prevent and treat infections • Medications to help the immune system (e.g., high dose steroids, immunoglobulin) • Interferon and occasionally chemotherapy • Your medical team will determine the best treatment options for your child. How successful is the treatment? Without HSCT, a majority of patients have a poor prognosis. HSCT can successfully treat the immune system and blood clotting dysfunctions related to the disease and prevent infec- tions and the life-threatening accelerated phase of the disease. However, the neurological manifestations of the disease are not eliminated with HSCT and patients who have under- gone HSCT continue to experience progressive neurological complications such as difficulty with walking, loss of balance, peripheral neuropathies (pain, numbness, and tingling in extremities), and learning difficulties. Stem Cell Transplant Indications HSCT is indicated for all children with CHS that have an avail- able and appropriately matched donor. Transplant has been successful using related, unrelated, and cord blood donors. The goal is to complete the HSCT prior to the accelerated phase of the disease.
• Increased sensitivity to light (photophobia) • Enlarged liver or spleen • Enlarged lymph nodes • Muscle weakness • Numbness • Difficulty walking and loss of balance • Tremors and seizures • Decreased intellectual functioning
nose bleeds due to dif- ficulties clotting blood • Light colored skin, sil- very hair, light colored eyes (oculoalbinism) • Impaired vision • Jerky eye movements (nystagmus)
How is CHS diagnosed? • Complete medical history • Physical exam
• Blood tests • Genetic testing • Prenatal testing
Chédiak-Higashi Syndrome
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