Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Aceruloplasminemia

Also known as ceruloplasmin deficiency.

What is Aceruloplasminemia?

• Aceruloplasminemia is a rare disorder that causes the liver to be unable to process the protein ceruloplasmin.
• Ceruloplasmin is vital for transporting copper through the bloodstream
• Though the condition is seen around the world, the true prevalence remains unknown.
  • One study suggests that one in 2 million people are affected
• Deficiencies of copper affect brain function and lead to neurological problems
  • These symptoms usually appear in adulthood
  • This eventually leads to neurodegeneration and iron accumulation in the brain if left untreated
• Diagnosis is usually the result of blood tests that reveal the deficiency of ceruloplasmin.
  • Other indicators include low serum iron, low serum copper, high serum ferritin, and higher hepatic iron

How Do You Get it?

• This disorder is inherited in an autosomal recessive pattern and is caused by a mutation affecting the CP gene
  • This gene is responsible for the creation of ceruloplasmin.
  • Ceruloplasmin helps transport iron from the tissue and organs so that it can be used by red blood cells to carry oxygen
• Carriers rarely show and signs or symptoms

What Are The Symptoms?

• Symptoms include:
  • Head and neck dystonia
  • Retinal degeneration (due to iron deficiency)
  • Grimacing
  • Tremors
  • Blepharospasms
  • Chorea
  • Psychiatric problems
  • Dementia
  • Ataxia
  • Anemia
  • Diabetes
    • Diabetes and anemia often are present by the mid-twenties

How Is It Treated?

• Aceruloplasminemia cannot be cured, but there are effective treatments available
• Some examples include iron chelating agents, which are often used in combination with fresh-frozen human plasma (FFP)
  • This treatment can reduce iron in the brain and liver
  • Additionally, this approach can halt and sometimes reverse the progression of symptoms
• Vitamin E and other antioxidants are also sometimes used in order to prevent damage of the pancreas and liver
• Children of patients are obligate carriers of the disorder
  • Prenatal testing may be recommended if mutations are found in a relative
• Iron supplements should be avoided

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the NBIA Disorders Association.