Aceruloplasminemia

Acaeruloplasminämie, also Acoeruloplasminämie (from Latin coeuruleus = blue), is an inherited metabolic disorder characterized by complete absence of ferroxidase activity of Caeruloplasmins, which is caused by mutations in the corresponding gene. Even genetically heterozygous variants can cause symptoms, especially in case of failure of the ferroxidase activity despite the presence of ceruloplasmin in serum ( Hypocaeruloplasminämie, Hypocoeruloplasminämie ).

Acaeruloplasminämie in 1987 first described by Miyajima et al. The disease is very rare and is observed in Japan, with an incidence of approximately 1:2,000,000 most often. The age range of neurological diagnosis is between 16 to 72 years, with a mean of 51 in the course of the disease is due to the failure of the oxidation of Fe2 to Fe3 in an increased accumulation of toxic ferrous iron. This leads to deposits of iron in the body, especially in the brain, liver and pancreas as well as in other organs and tissues. It is commonly found clinical triad of retinal degeneration ( ca.93 % ), diabetes mellitus ( ca.89 %) and neurological symptoms ( ca.73 %) such as ataxia, involuntary movements and dementia. Anaemia is also frequently observed (about 80 %). In addition, there are studies which also disturbance from the disturbance of mitochondrial energy metabolism and lipid peroxidation by free radical formation may occur ( as a result of iron enrichment), in some cases, as well as hormonal disturbances of the hypothalamus and thereby hypothyroidism and diabetes insipidus.

To diagnose serve mainly blood tests, imaging and genetic studies. Differential diagnosis are particularly relevant hemochromatosis (iron storage disease), as well as Wilson's disease, in which also the ceruloplasmin is decreased, but the symptoms arise primarily from copper enrichments. Imaging techniques such as MRI can visualize metallic deposits in the Acaeruloplasminämie. In the serum shows a lack of ferroxidase activity, a lack of ceruloplasmin (or low ceruloplasmin in heterozygous patients), low copper levels, as well as a low iron levels and an elevated level of ferritin ( in heterozygous patients are iron and ferritin mostly in the standard ). Increased lipid peroxidation may be determined by malondialdehyde ( MDA ) and 4- hydroxynonenal (4- HNE ) and prostaglandin F2a ( PGF2a ). In contrast to Wilson's disease is not increased the level of copper in urine at Acaeruloplasminämie.

If the diagnosis of iron chelators can be used to reduce the iron deposits in the body. However, it is reported on the patient, the only show little or no improvement with such treatment.

One study suggests that in very special cases in heterozygous patients can "Environmental Conditions" decide whether a patient develops symptoms or not; it is reported from cases in which a parent and a child have the same heterozygous mutation, but only the child is ill.

Swell

• Hereditary disease
• Metabolic disease