Aceruloplasminemia as a rare hereditary disease: four case reports in a single center.

Abstract

Aceruloplasminemia, which is a very rare iron metabolism disorder, may present with extremely nonspecific complaints, and disease screening should be considered, especially in patients with consanguineous marriages. We share four cases diagnosed with aceruloplasminemia and their characteristics. The first three cases were related to each other and have consanguineous marriages in their family history. Our first and fourth cases were diagnosed with aceruloplasminemia upon detecting hypochromic microcytic anemia, low transferrin saturation, and a high ferritin level in the examinations performed after a nonspecific complaint such as fatigue. Even though the second and third cases had no complaints, they were diagnosed during screening tests because they were relatives of the first case.