Adrenoleukodystrophy natural history, complications and prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Adrenoleukodystrophy is a progressive disease as the risk of symptoms increases with age but its manifestations are highly variable. Most of the male patients presents with adrenal insufficiency (Addison disease) in childhood (80% prevalence) while those in adulthood presents with signs of myelopathy. Childhood cerebral ALD is the most serious form of the disease. It typically occurs between the ages of 2.5 and 10 years, and is associated with rapid neurological decline and death or disability on average 3 years after initiation. Males who do not develop the disease in childhood, develops Adrenomyeloneuropathy (AMN) in 30s or 40s.

Natural History

Adrenoleukodystrophy is a progressive disease as the risk of symptoms increases with age but its manifestations are highly variable.

Most of the male patients presents with adrenal insufficiency (Addison disease) in childhood (80% prevalence) while those in adulthood presents with signs of myelopathy. Women with the ALD usually presents with myelopathy, other manifestations such as adrenal insufficiency are unusual. ^[1]

Childhood cerebral ALD is the most serious form of the disease. It typically occurs between the ages of 2.5 and 10 years, and is associated with rapid neurological decline and death or disability on average 3 years after initiation.

Males who do not develop the disease in childhood, develops Adrenomyeloneuropathy (AMN) in 30s or 40s.

ALD usually does not occur in heterogeneous women. Only 88 per cent of adult women can become symptomatic with myelopathy and peripheral neuropathy, but the symptoms are usually milder than those of men.^[2]

Complications

Common complications of Adrenoleukodystrophy include:
- Adrenal crisis
- Vegetative state (long-term coma)

Prognosis

The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological symptoms develop. The child can live in this condition for as long as 10 years until death occurs.

The other forms of this disease are milder.

References

↑ Kemp, Stephan; Huffnagel, Irene C.; Linthorst, Gabor E.; Wanders, Ronald J.; Engelen, Marc (2016). “Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history”. Nature Reviews Endocrinology. 12 (10): 606–615. doi:10.1038/nrendo.2016.90. ISSN 1759-5029.
↑ Wiens, Katie; Berry, Susan A.; Choi, Hyoung; Gaviglio, Amy; Gupta, Ashish; Hietala, Amy; Kenney‐Jung, Daniel; Lund, Troy; Miller, Weston; Pierpont, Elizabeth I.; Raymond, Gerald; Winslow, Holly; Zierhut, Heather A.; Orchard, Paul J. (2019). “A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy”. American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.61171. ISSN 1552-4825.

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[KempHuffnagel2016-1] Kemp, Stephan; Huffnagel, Irene C.; Linthorst, Gabor E.; Wanders, Ronald J.; Engelen, Marc (2016). “Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history”. Nature Reviews Endocrinology. 12 (10): 606–615. doi:10.1038/nrendo.2016.90. ISSN 1759-5029.

[WiensBerry2019-2] Wiens, Katie; Berry, Susan A.; Choi, Hyoung; Gaviglio, Amy; Gupta, Ashish; Hietala, Amy; Kenney‐Jung, Daniel; Lund, Troy; Miller, Weston; Pierpont, Elizabeth I.; Raymond, Gerald; Winslow, Holly; Zierhut, Heather A.; Orchard, Paul J. (2019). “A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy”. American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.61171. ISSN 1552-4825.

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