X-linked adrenoleukodystrophy
ICD-10 E71.52 is a billable code used to indicate a diagnosis of x-linked adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder characterized by the accumulation of very long-chain fatty acids (VLCFAs) in the body due to a deficiency of the enzyme adrenoleukodystrophy protein (ALDP). This condition primarily affects males and is linked to mutations in the ABCD1 gene located on the X chromosome. Clinically, X-ALD manifests in various forms, including the childhood cerebral form, which typically presents between ages 4 and 10 with progressive neurological decline, behavioral changes, and seizures. The adult form may present with adrenal insufficiency and progressive neurological symptoms. Diagnosis is confirmed through biochemical testing showing elevated VLCFAs and genetic testing for ABCD1 mutations. Early diagnosis is crucial for management, which may include hormone replacement therapy for adrenal insufficiency and potential hematopoietic stem cell transplantation for severe cases. The complexity of X-ALD lies in its variable presentation and the need for multidisciplinary management, including neurology, endocrinology, and genetics.
Detailed neurological assessments and symptomatology must be documented.
Patients presenting with progressive neurological decline, seizures, or behavioral changes.
Documenting the onset and progression of symptoms is critical for accurate coding.
Genetic testing results and family history must be clearly documented.
Patients undergoing genetic counseling or testing for X-ALD.
Ensure that the genetic mutation is documented to support the diagnosis.
Used when confirming a diagnosis of X-ALD.
Document the reason for testing and results.
Genetic counseling may be necessary.
X-ALD is primarily caused by mutations in the ABCD1 gene, leading to a deficiency in the adrenoleukodystrophy protein, which is essential for the breakdown of very long-chain fatty acids.
