Aceruloplasminemia

A rare genetic disorder affecting iron metabolism

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Aceruloplasminemia is a rare autosomal recessive disorder characterized by the absence of the ceruloplasmin protein, which plays a crucial role in iron metabolism. This condition leads to the accumulation of iron in various tissues, including the brain, liver, and pancreas, resulting in a range of neurological and systemic symptoms.

Pathophysiology

Aceruloplasminemia is caused by mutations in the CP gene, which encodes the ceruloplasmin protein. Ceruloplasmin is a ferroxidase enzyme that facilitates the conversion of ferrous iron (Fe²⁺) to ferric iron (Fe³⁺), a form that can be transported by transferrin in the blood. The absence of functional ceruloplasmin disrupts normal iron homeostasis, leading to iron accumulation in tissues.

Clinical Features

The clinical presentation of aceruloplasminemia typically includes a triad of symptoms:

• Neurological symptoms: Patients may experience ataxia, dystonia, dementia, and psychiatric disorders. These symptoms are due to iron deposition in the basal ganglia and other parts of the brain.
• Diabetes mellitus: Iron accumulation in the pancreas can lead to beta-cell dysfunction and insulin deficiency, resulting in diabetes.
• Retinal degeneration: Patients may develop retinal degeneration due to iron deposition in the retina, leading to vision problems.

Diagnosis

Diagnosis of aceruloplasminemia is based on clinical evaluation, laboratory tests, and genetic testing. Key diagnostic features include:

• Low or absent serum ceruloplasmin levels
• Elevated serum ferritin levels
• Low serum iron levels
• Genetic testing confirming mutations in the CP gene

Management

There is currently no cure for aceruloplasminemia, and treatment focuses on managing symptoms and reducing iron accumulation. Therapeutic strategies include:

• Iron chelation therapy: Agents such as deferoxamine or deferasirox may be used to reduce iron overload.
• Antioxidant therapy: Vitamin E and other antioxidants may help mitigate oxidative stress caused by iron accumulation.
• Symptomatic treatment: Management of diabetes with insulin and treatment of neurological symptoms with appropriate medications.

Prognosis

The prognosis of aceruloplasminemia varies depending on the severity of iron accumulation and the effectiveness of treatment. Early diagnosis and intervention can help manage symptoms and improve quality of life.

Related pages

• Iron metabolism disorders
• Neurodegeneration with brain iron accumulation
• Wilson's disease