Aceruloplasminemia

What is Aceruloplasminemia?

Aceruloplasminemia is an inherited disorder which causes high levels of iron to accumulate in the brain and other internal organs. It is a very rare disorder. 32 cases have been reported in the medical literature in the past 10 years. Aceruloplasminemia is more frequently found in Japan, where it’s prevalence is estimated to be 1 in 200,000 of the general Japanese population.

What are the symptoms of Aceruloplasminemia?

The symptoms and severity of Aceruloplasminemia vary from one person to another even among members of the same family. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. The age of onset varies as well, ranging from anywhere between the 20’s and 60’s. Common symptoms of Aceruloplasminemia include:

Retinal degeneration
Neurological symptoms
Diabetes mellitus
Elevated iron levels in the blood
Shoulders, hips, and face are subject to jerky involuntary movements

What causes Aceruloplasminemia?

The parents of an individual with Aceruloplasminemia both carry one copy of the mutated gene, but their health is not affected by it and the don’t have any symptoms of the disease. They are considered to be carriers of the disorder. This type of inheritance pattern is referred to as an autosomal recessive inheritance pattern.

How is Aceruloplasminemia diagnosed?

Clinicians will make a diagnosis of aceruloplasminemia after taking a patient history, noting the pattern of symptoms, completing a physical examination and finally utilize a selection of specialized tests.

What are the treatments for Aceruloplasminemia?

Aceruloplasminemia treatment focuses on the individual and their specific symptoms. Desferrioxamine is a drug that binds to the extra iron in the body and aids the body in getting the kidneys to excrete the abundant levels of iron in the blood.

Where can I find out more about Aceruloplasminemia?