Adrenoleukodystrophy – what is it??
If you or a family member is suspected of having adrenoleukodystrophy (ALD for short)?
This information sheet is intended to help those affected and their relatives gain an initial overview of this very rare clinical picture.
At a glance
Adrenoleukodystrophy (ALD for short) is an inherited metabolic disorder. It damages adrenal glands, brain and spinal cord. About 1 in 17,000 newborns are affected – boys or men almost always contract the disease.
Signs may include: feeling weak, low blood prere, vomiting, gait disturbances, paralysis, difficulty concentrating, blindness, deafness.
ALD is not curable. Treatment options are: Medication, adrenal hormones, physiotherapy, occupational therapy, psychological and psychiatric care, transfer (transplantation) of stem cells.
In ALD, certain fatty acids are not broken down due to a genetic defect. These damage the brain, spinal cord and adrenal glands.
How ALD manifests itself depends on gender. Because the altered gene is located on one of the hereditary traits that determine gender: on the X chromosome. Men have only one. They almost always fall ill. It is impossible to predict when the symptoms will first appear and how severe they will be. Women have two X chromosomes. They usually carry the defective gene on only one side and often do not know that they have this hereditary disease. But they can pass it on to their children. Women do not experience symptoms until later in life, if at all.
Signs and symptoms
In most male patients, the adrenal glands no longer produce enough hormones. This leads to feelings of weakness, low blood prere, vomiting, weight loss and a brownish discoloration of the skin, among other symptoms. These symptoms may be the first signs of ALD, but may also have other causes. Some sufferers have no other signs of adrenal insufficiency for years.
There are two main courses of ALD:
Adrenomyeloneuropathy (AMN for short):
AMN is the milder form. Almost all affected men develop the disease. First signs usually appear in young adulthood, such as gait disturbances due to muscle weakness, pain in the legs and coordination problems. Later, paralysis, uncontrolled loss of urine and stool, and erectile dysfunction can occur. The disability progresses over years. Many require a wheelchair at some point. Life expectancy is normal unless the brain is also affected. About one in two affected women develops similar symptoms in middle age.
ALD with brain involvement:
This form breaks out in about one in three affected boys – usually between the ages of 3 and 6. and 12. At the age of six. For an unexplained reason, there is a severe progressive inflammation in the brain. At first, the children develop according to their age. Suddenly their behavior and nature changes. For example, they can no longer concentrate, become restless and their performance at school declines. Symptoms deteriorate rapidly – blindness, deafness, paralysis and difficulty swallowing occur. If left untreated, the children will be severely handicapped and in need of care after about 2 to 4 years. Many die. In isolated cases, ALD has been reported to stop with no apparent cause.
Since many symptoms are not clear-cut and may indicate other diseases, it often takes years until the correct diagnosis is made. To confirm it, blood is tested for the altered genetic makeup.
The disease is not yet curable. The hormones of the adrenal glands are essential for life. Its absence can be treated well by supplying the body with adrenal hormones.
The further treatment should correspond to the needs of the person with the disease. Early physiotherapy. Occupational therapy relaxes the muscles. Medication can help with cramps or pain. In the case of swallowing disorders, affected persons can receive food artificially via a tube. Sometimes psychological or psychiatric care is helpful.
Experts recommend magnetic resonance imaging (MRI) of the brain every 6 to 12 months or when new symptoms develop. This is to detect brain involvement as early as possible: Case series show that when brain involvement begins, a transfer (transplant) of human stem cells can delay or stop the progression of the disease. However, the effect only occurs after several months. Existing damage cannot be reversed. The procedure is risky. About one in ten people die as a result of the condition. Nevertheless, this is currently the only way to treat ALD with brain involvement.
Many studies point to a nerve-damaging effect of the non-degradable fatty acids. A low-fat diet and the intake of a special oil mixture – known as "Lorenzo's oil" – can lower the harmful fatty acids in the blood. After a few weeks, fatty acid levels normalize. Progressive nerve destruction cannot be completely prevented by treatment. It is unclear whether the onset of the disease can be delayed. Side effects often occur, such as increased liver values.
What you can do yourself
– There are support and counseling services that can make your family's daily life easier. Find out about self-help organizations. Exchange information with other affected people.
– If you have any questions about the inheritance of the disease or if you would like to have your blood tested for altered hereditary traits, you can obtain information from a human genetic counseling center.
– If ALD is diagnosed in a family, all male blood relatives should be examined in order to be able to be treated in time if necessary.
– If you are a woman carrier, get advice on family planning ies.
Many parents feel guilty about their child's illness. No one can do anything about their genes, so there is no question of guilt.