What are the symptoms of ALD? How does it progress?

ALD symptoms can vary depending on age, gender, and the body tissues affected. The tissues that are most severely affected in ALD are myelin, blood, and the adrenal glands. Not all tissues are affected at the same time.

In the world of genetic disorders, doctors group collections of symptoms into “phenotypes” based on the cells and tissues that are most severely affected by a gene abnormality. Individuals with the ALD gene may have different phenotypes. A person may experience several phenotypes throughout their life. In fact, it is common for individuals to have more than one phenotype at any given time.

The primary phenotypes that can occur in males with the ALD gene:

Adrenal insufficiency (Addison’s disease)

Adrenal insufficiency is often the first detected symptom for boys with ALD. It occurs as a result of permanent injury to the adrenal glands. Adrenal insufficiency is sometimes referred to as Addison’s disease, named for Dr. Thomas Addison, who first described it. Adrenal symptoms can include fatigue, loss of appetite, hyperpigmentation (skin darkening), and belly pain. Although adrenal insufficiency is manageable it can become life-threatening if it is not detected early. Most boys with ALD will eventually develop adrenal insufficiency. Because of the high rates of adrenal insufficiency in the male population, testing for insufficiency is extremely important, and an endocrinologist should be consulted. Patients and caretakers should educate themselves about the importance of stress-dosing steroids with illnesses and major injuries.