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Diagnosing ALD

Early detection is possible1

Increased levels of plasma very-long chain fatty acids (VLCFAs) are indicative of adrenoleukodystrophy (ALD)1

As ALD is characterized, 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 ALD patients, 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

Diagnose and refer

If you confirm ALD, consult with and refer your patient to an ALD specialist for monitoring, and to discuss appropriate treatment options.3 An ALD specialist 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 specializes in ALD can provide:3

  • Regular magnetic resonance imaging (MRI) monitoring
  • Discussion on treatment

A neurologist with expertise in ALD or other ALD specialist partner can identify changes in the brain that are indicative of progression to cerebral ALD.3

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