A Family Guide to Non-Oncologic Blood Disorders
Adrenoleukodystrophy
What is adrenoleukodystrophy? Adrenoleukodystrophy (ALD) is a rare inherited disease that involves a faulty gene that leads to a buildup of a long chain of fatty acids in the brain, nervous system, and adrenal glands. In ALD, there is a breakdown of the myelin sheath , the fatty covering of the nerve cells in the brain. Nerve cells are unable to send signals through the body normally, which can lead to neurological problems including movement, memory, speak- ing, and learning. In ALD, the faulty gene is found on the X chromosome. Since males have only one X chromosome, they are more adversely affected than females, who have two normal X chromosomes and are carriers of the disease. Cerebral (involving the brain) x-linked childhood ALD is the most severe form of the disease. Symptoms generally appear in males age 4 to 8. The adolescent/ adult form of the disease appears between the ages of 10 and 21 and has the same neurologically debilitating symptoms, but at a slower progression than the childhood form. The following are the most common symptoms of ALD. Howev- er each child may experience symptoms differently. Symptoms may include: • Poor attention • Confusion • Forgetfulness • Poor performance or behavior in school • Difficulty swallowing, walking, or talking • Difficulty hearing and seeing • Progressive neurolog- How is ALD diagnosed? • Blood tests to evaluate the amount of long chain fatty acids in the blood and evaluate how well the adrenal glands are working • Genetic DNA-based blood tests • Magnetic resonance imaging (MRI) of the brain to eval- uate for any changes in the brain related to destruction of the myelin sheath. Lesions on the brain caused by destruction of the myelin sheath appear prior to any symptoms of the disease. The MRI scan will produce a Loes score, which rates the severity of the damage to the brain on a scale from 0–34. Patients with low Loes scores in the early stage of the disease have a better ical symptoms that re- sult in severe disability
long-term survival rate than those with higher Loes scores. • Prenatal testing is available for those who may be affected. This can be done through amniocentesis (removing a small amount of amniotic fluid with a nee- dle inserted in the uterus) and chorionic villus sampling (removing a small amount of tissue from the placenta). What tests and procedures will my child need? • Monitoring with MRI every 6–12 months • Complete medical and family history • Physical exam • Blood tests to check adrenal function • Neuropsychological testing to evaluate different functions of the brain What are the treatment options for ALD? • Hematopoietic stem cell transplant (HSCT) is the only effective treatment for the cerebral form of ALD. The goal of HSCT is to provide your child with healthy stem cells that produce a functioning ALD protein—the protein that is lacking in patients diagnosed with ALD. Without transplant, cerebral x-linked ALD can lead to progressive debilitating disease and death within 2 years. • Treatment with adrenal hormones is indicated for adrenal dysfunction, a condition in which the adrenal glands do not produce adequate amounts of steroid hormones or other key hormones that help regulate major body functions. • Supportive treatments include physical therapy, special education, and psychological support. • Your medical team will determine the best treatment plan for your child. How successful is the treatment? Patients who undergo HSCT early in the disease have sig- nificantly improved outcomes compared to those with more advanced symptoms.
Adrenoleukodystrophy
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