Diagnosis and Management of Patients With Adrenoleukodystrophy

Publication Date: November 22, 2022
Last Updated: January 31, 2023

Summary of Recommendations

  • Presenting symptoms - when to consider ALD
    • In boys and men with confluent white matter abnormalities on brain MRI in a pattern suggestive of ALD with or without cognitive and neurologic symptoms;
    • In adult men and women with symptoms and signs of chronic myelopathy with a normal MRI;
    • In boys and men with primary adrenal insufficiency with no detectable steroid-21-hydroxylase antibodies or other organ specific antibodies;
    • In all at-risk patients with a relative diagnosed with ALD.
  • Screen all boys and men for cerebral ALD with MRI, including in the absence of neurologic or cognitive symptoms. Screening frequency is discussed in Figure 4. Gadolinium is indicated when a new lesion or questionable lesion is identified, or sedation is used.
  • To treat cerebral ALD, consult an ALD transplantation expert who can determine allogeneic or genetically transduced autologous stem cell transplantation eligibility.
  • Use history and neurologic examination to diagnose myeloneuropathy.
  • Solely screen apparently asymptomatic men for symptoms or physical signs of myeloneuropathy in parallel to any other testing.
  • Schedule yearly follow-up for men and women with myeloneuropathy
  • Treatment is supportive. Aim treatment at reducing pain and spasticity and maintaining functional ability and quality of life.
  • Screen all boys and men for adrenal insufficiency with early morning cortisol, ACTH, plasma renin, and serum electrolytes. If symptoms suggestive of adrenal insufficiency manifest, evaluate adrenal insufficiency promptly to prevent an adrenal crisis.
  • Consult a (pediatric) endocrinologist for glucocorticoid replacement therapy when adrenal insufficiency is present. Do not initiate mineralocorticoid replacement therapy based on symptoms alone but also take into account plasma renin and serum electrolyte abnormalities.
  • Data to support the efficacy of Lorenzo's oil as a disease-modifying treatment in patients with ALD are insufficient.

Figures

Diagnostic Algorithm

Overview

Title

Diagnosis and Management of Patients With Adrenoleukodystrophy

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