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| Disease found: | Aceruloplasminemia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Caused by genetic changes in the CP gene and is inherited in an autosomal recessive pattern that leads to excess iron buildup [more info] |
| Signs and Symptoms: | Anemia, diabetes, eye problems, difficulty controlling movements, tremors, chorea, ataxia, eyelid twitching, and grimacing, psychiatric problems, dementia, retinal abnormalities [more info] |
| Diagnosis: | Diagnosis is based on the symptoms, imaging studies and may be confirmed by the results of genetic testing [more info] |
| Treatment: | Treatment is focused on managing the symptoms through medications that absorb excess iron. [more info] |
| Clinical Management: | Long term medication management [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One clinical trail currently recruiting |