Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) describes different conditions that are inherited. The adrenal glands and the nervous system are involved. Three major categories of adrenoleukodystrophy exist as you will be reading much later in this article.

In 1993, the gene responsible for adrenoleukodystrophy was discovered. ALD, based on statistics from Oncofertility Consortium, occurs in 1 in every 20,000 – 50,000 people and men are the most affected. Women, on the other hand, might show no symptoms at all and if they do, it will be quite mild. Based on the fact that adrenoleukodystrophy has three variants, the symptoms, prognosis, and treatments will not be the same.

It is important to note that ALD has got no cure but can only be managed by slowing down its progression.

Types of adrenoleukodystrophy

Three types of ALD exist:

  • Childhood cerebral ALD has seen children between the age range of three and ten years old. It has a rapid progression with consequences of serious disability and death.
  • Adrenomyelopathy typically affects grown men. It’s not as severe as childhood cerebral ALD. It is a progressive disease.
  • Addison’s disease, otherwise termed adrenal insufficiency occurs when very little quantity of hormones is produced by your adrenal glands.

Causes and risk factors for adrenoleukodystrophy

The adrenoleukodystrophy protein (ALDP) helps to break down very long chain fatty acids (VLCFAs) in your body. In instances where ALDP fails to do this, VLCFAs will remain in the body and pile up to the detriment of the outer layer of cells found in the:

  • brain
  • adrenal glands
  • spinal cord
  • testes

ALD is developed due to gene mutations in the protein, ALDP. When this happens, ALDP won’t be available tocarry out its duty in the body – break down VLFCAs.

Men are the most affected with ALD. They develop it earlier in life and it usually comes with severe symptoms. This is so because it is an X-linked disorder. As an X-linked disorder, it means male children inherit the mutated (bad) gene from their carrier mother. The males receive the bad X-chromosome from their mother since the Y chromosome will always come from the father. Men have one X chromosome and one Y chromosome (XY).

Women usually have two X chromosomes (XX). One can be good and the other can be bad (mutated). A male child can hence end up being formed at fertilization from the bad X chromosome from themother.

Whereas female children are a result of one X from the mother and an X chromosome from the father. So even if a female child receives the bad X chromosome from the mother, the X chromosome from the father is always a good one in this case. The good one from his father can cover up for the bad one from the mother. That is why women don’t get severe symptoms because the good X chromosome can still make sufficient ALDP tocover their symptoms.

Most women that have ALD might have adrenomyelopathy. Addison’s disease as well as childhood cerebral ALD arent common.

Adrenoleukodystrophy
Photo Credit: ResearchGate


Symptoms of adrenoleukodystrophy

Symptoms of childhood cerebral adrenoleukodystrophy include:

  • hyperactivity
  • deteriorated fine motor control
  • muscle spasms
  • crossed eyes
  • seizures
  • loss of hearing
  • paralysis
  • trouble swallowing
  • trouble with comprehending language
  • impaired vision
  • coma

Common signs of adrenomyelopathy are:

  • weak muscles
  • poor control of passing urine
  • difficulty in thinking
  • difficulty in remembering visual perceptions
  • stiffness in the legs

Signs of adrenal insufficiency (Addison’s disease) include:

  • coma
  • weight loss
  • poor appetite
  • vomiting
  • weak muscles
  • decreased muscle mass
  • increased skin pigmentation

Diagnosing adrenoleukodystrophy

ALD symptoms just like any other disease can mimic the symptoms of other illnesses. That is why tests will have to be conducted to distinguish it from other conditions.

Your medical doctor can order for a blood test to:

  • diagnose the presence of abnormally high VLCFAs levels
  • assess your adrenal glands
  • determine the genetic mutation involved in ALD

Other tests might involve the scanning of your brain for possible damages. An MRI scan will likely be adopted to achieve this.

Also, VLCFAs can be tested for by getting samples of skin from you. A fibroblast skin culture can test for VLCFAs.

When a child is suspected to have ALD, a vision screen might be one of the recommended tests.

Treatment of adrenoleeukodystrophy

The method of treatment will depend on the ALD type.

Steroids can be used to medically manage Addison’s disease. No specific method exists for treating other ALD types.

But some people have found the following useful:

  • switching to diets with low VLCFAs content
  • taking Lorenzo’s oil to bring down VLCFA levels
  • taking medications to alleviate symptoms i.e. seizures
  • engaging in physical therapy to reduce spasms

There are laudable attempts by doctors to find out new ways to treat ALD. Some doctors have even experimented with bone marrow transplants. But children who have early diagnosis might be the only one to benefit from a bone marrow transplant.

Outlook of adrenoleukodystrophy

Cerebral ALD in children can cause serious disability, coma, and at last death. Coma will likely occur about two years after symptoms begin to manifest. Episodes of going into a coma can extend to 10 years and even for a lifetime.

Adrenomyelopathy and Addison’s disease aren’t in any way close to the seriousness of childhood cerebral ALD. They gradually develop. It is only the symptoms that can be treated. The disease itself has no cure.

Preventing adrenoleukodystrophy

You can hardly prevent ADS development because it is hereditary.

If you as a woman have a family history of ALD, you will have to go for genetic counseling. The counseling should be before you start having children.

And if you are already pregnant, you will have to go for a test called an amniocentesis (chorionic villus sampling). This test will find out if your unborn baby has ALD or not.

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