Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.

Ceruloplasmin is a member of the multicopper oxidase family that plays a major role in the transport of iron in the body. Aceruloplasminaemia (ACP) is a rare disease and is clinically identified by iron overload in liver, pancreas, brain, and other organs, and by microcytic anaemia. So far, the iron chelator deferasirox was given for therapy only up to 6 months due to side effects. Here, we describe a novel mutation leading to ACP and report for the first time a long-term therapy, that is, 2 years with deferasirox. ACP was diagnosed in 3 siblings using clinical and biochemical characteristics, HFE and ceruloplasmin mutational analysis, liver biopsy, brain-, liver-, and heart-MRI. For iron depletion, a starting dose of deferasirox 7.5 mg/kg/day was increased to 15 mg/kg/day and maintained at 4-7.5 mg/kg/day with a patient follow-up for 2 years. A novel homozygous mutation of the ceruloplasmin gene on chromosome 3 (3q23-q25, exon 12, G708S) was found. Iron was selectively and successfully removed by long-term therapy with deferasirox, as confirmed by follow-up liver biopsies, normalisation of serum ferritin concentrations, and improved glucose metabolism. Unexpectedly, iron depletion ameliorated anaemia. Low-dose deferasirox is an effective and safe long-term treatment option for patients with ACP.

[Coincidental squamous cell cancers of the esophagus and head and neck: risk and surveillance]. / Koinzidenz von Plattenepithelkarzinomen der Speiseröhre und Kopf-Hals-Karzinomen: Risiko und Früherkennung.

Patients suffering from head and neck cancer (HNC) have or will develop a second esophageal squamous cell cancer (ESCC) in 5 - 14 %. When a second esophageal neoplasm occurs in a HNC patient, the prognosis is generally determined by the ESCC, and unfortunately it is poor. Prospective clinical studies in Japan, Brazil, Taiwan, France and Germany have shown that screening or surveillance using Lugol chromoesophagoscopy enables early detection of second esophageal neoplasias. Such a surveillance results in a survival benefit for HNC patients. Vice versa, ESCC patients also have a risk of 9.3 - 11.4 % for a head and neck cancer. Periodic otolaryngeal examination and pharyngoscopy is recommended for curatively treated ESCC patients. Patients with a so-called field cancerisation of the airways and upper digestive tract thus require an interdisciplinary management and monitoring.