This was orignially written for the Society for Endocrinology Monthly Newsletter by the www.aldlife.org . ALD Life has given us permission to use it here in our blog.
Importance of the link between Adrenal Failure and Adrenoleukodystrophy (ALD)
In 2001, Alex and Ayden Hunt, from East Dulwich, were diagnosed with Adrenoleukodystrophy (ALD). Alex deteriorated quickly to a semi vegetative state, and his brother Ayden was treated by bone marrow transplant to prevent him suffering from the same devastating symptoms as Alex. Sara Hunt, their mother, found it extremely difficult to get the support and advice she needed to help her deal with her sons’ conditions. Subsequently, she decided to set-up ALD Life, a patient support group that aims to provide a hub of support and advice about the disorder to affected patients and families in the UK, as well as providing financial support for those affected and helping to fund research.
While working with medical specialists and endocrinologists and listening to patients and families, we have found that many medical professionals, patients and families still lack awareness of the link between Adrenal Failure and Adrenoleukodystrophy. Dr Colin Steward, Consultant in Haemopoietic Stem Cell Transplantation for Genetic and Metabolic diseases at the Bristol Royal Hospital for Children, explains why spotting this underlying diagnosis can make a critical difference to patients and their families:
Adrenal failure is a common feature which predates or accompanies two neurological diseases caused by mutation of the ABCD1 gene: Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). The disease is X-linked, meaning that females are carriers (and can be symptomatic in later life) but it is males who develop the major forms of the disease. In some families there will be a history of adrenal failure, nervous system disorders or early death – including sudden unexplained death – in males linked through the female side of the family.
ALD is a potentially devastating disease. It affects approximately 40% of males with ABCD1 mutations and often follows a rapid path of deterioration in childhood or adolescence following onset of the first obvious symptom. Signs of deterioration include hyperactivity, withdrawal, emotional instability, worsening school performance, memory problems, disturbances of gait, speech or coordination, and impaired vision or hearing. AMN has later onset, usually in the 20s to 50s, and is characterised by spinal cord dysfunction which can cause problems with walking, leg stiffness, bladder or erectile dysfunction.
Adrenal problems often predate the onset of neurological disease, meaning that early diagnosis can have important implications. Studies suggest that 50-80% of all boys presenting with adrenal failure will have underlying ABCD1 mutations on testing and 10-35% of adolescent/young adult men (described in detail in this free article: http://www.ncbi.nlm.nih.gov/pubmed/11861237). A minority of patients have isolated adrenal problems and never develop neurological disease.
Early detection of adrenal presentations allows boys to be screened prospectively for brain changes by serial MRI scanning, allowing early intervention with haemopoietic stem cell transplantation or gene therapy. This can arrest disease before significant neurological handicap develops or reduce the eventual severity of problems. In addition cascade testing can be performed in families by biochemical or genetic testing, identifying other affected family members or carriers and opening up avenues such as antenatal diagnostic testing.
The disease is easy to exclude in young males with adrenal failure, involving identification of elevated levels of very long chain fatty acid (VLCFA) level in blood. ALD Life can advise on how to access testing.
Unfortunately, just before Christmas last year, Alex Hunt passed away aged 19. He had been one of the few to have survived for more than a decade with the disorder. Since the sad loss of their inspiration, the charity has become even more determined to fight against ALD. That’s why we’ve decided to raise awareness of the importance of the link between Adrenal Failure and Adrenoleukodystrophy – to be able to vastly improve early diagnosis and potentially save the lives of future young boys affected by this cruel and devastating disorder.
Telephone: 020 8473 7493
To Read a mom’s personal journey with ALD go to “Gabe’s Birthday in the Hospital.”