Aceruloplasminemia

Aceruloplasminemia is a rare inherited condition where the body cannot make a working form of a protein called ceruloplasmin. Ceruloplasmin normally helps move iron out of cells, especially in the brain, liver, and pancreas. Without it, iron builds up slowly in these organs over many years, causing serious damage. The disease is also sometimes called 'hereditary ceruloplasmin deficiency.' The iron buildup causes a combination of problems that are unusual to see together: diabetes (from damage to the pancreas), anemia (low red blood cells, from problems in the liver), and neurological symptoms (from iron damage to the brain). Brain symptoms often include movement problems like tremors or difficulty walking, as well as memory and thinking difficulties. Eye problems, including a condition called retinal degeneration, can also occur. Most people do not notice symptoms until adulthood, often in their 40s or 50s, because the iron builds up slowly over decades. There is no cure, but treatments aimed at reducing iron levels — such as iron-chelating medications — can help slow the disease. Managing diabetes and anemia is also an important part of care. Early diagnosis is key to preventing the worst outcomes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What stage is my iron buildup at, and which organs are most affected right now?,Should I start iron chelation therapy, and which medication would be best for me?,How often should I have MRI scans and blood tests to monitor my condition?,Are any of my family members at risk, and should they be tested?,Are there any clinical trials I might be eligible for?,What symptoms should prompt me to seek emergency care?,What specialists should be part of my care team, and how often should I see each one?

Common questions about Aceruloplasminemia

Related conditions

Other rare diseases commonly researched alongside Aceruloplasminemia.

• Friedreich ataxia→
• Wilson disease→