Diagnosing ALD
Diagnosing ALD
As ALD is characterised, in part, by the accumulation of VLCFAs, early detection requires measurement of plasma VLCFA levels.2 Increased levels of plasma VLCFA are indicative of ALD.1
Once we have a positive VLCFA test, then we need to make the referral to determine ALD and start monitoring.
Bradley Miller, MD, PhD Pediatric endocrinologist
Because endocrinologists are often the first line of care for patients with ALD, they may have the opportunity to identify the first signs of ALD.4 Screening to detect elevated plasma levels of VLCFA could save lives.3
The Endocrine Society Clinical Practice Guidelines recommend measuring VLCFA levels in plasma in order to diagnose ALD as part of the evaluation of preadolescent boys with primary adrenal insufficiency.4 Measuring VLCFA levels is now recommended to detect ALD as part of newborn screening in the US.2,5
If you confirm ALD, consult with and refer your patient to a neurologist for monitoring, and to discuss appropriate treatment options.3 A neurologist can monitor ALD and detect the progression of ALD to cerebral ALD—a rapidly progressing and life-threatening neurodegenerative form of the disease.1,6
A neurologist who specialises in ALD can provide:3
- Regular magnetic resonance imaging (MRI) monitoring
- Discussion on treatment
A neurologist with expertise in ALD or other ALD specialists can identify changes in the brain that are indicative of progression to cerebral ALD3
References: 1. Engelen M, Kemp S, Poll-The BT. X‑linked adrenoleukodystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 2014;14(10):486. 2. Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M. Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol. 2016;12(10):606-615. 3. Moser HW, Mahmood A, Raymond GV. X‑linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3(3):140-151. 4. Bornstein SR, Allolio B, Arlt W, et al. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016;101(2):364-389. 5. Bezman L, Moser AB, Raymond GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001;49(4):512-517. 6. Miller WP, Rothman SM, Nascene D, et al. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood. 2011;118(7):1971-1978.