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

Change to: 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 occurs as a result of permanent injury to the adrenal glands. More than 80% of men with ALD will eventually develop adrenal insufficiency over their lifespan. Adrenal insufficiency is very uncommon in women with ALD. Adrenal insufficiency is sometimes referred to as Addison’s disease, named for Dr. Thomas Addison, who first described it. Symptoms can include weakness/fatigue, nausea, abdominal pain, and low blood pressure. These symptoms can have many different causes and therefore are often not recognized to be due to adrenal insufficiency. Some symptoms such as darkening of the skin are a more obvious sign of 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. Although it is easily treatable with oral medications, adrenal insufficiency can be life-threatening if it is not recognized quickly. Patients and caretakers should educate themselves about the importance of stress-dosing steroids with illnesses and major injuries.