Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.

The adult human body contains about 4 g of iron. About 1-2 mg of iron is absorbed every day, and in healthy individuals, the same amount is excreted. We describe a patient who presents with severe iron deficiency anemia with hemoglobin levels below 6 g/dL and ferritin levels below 30 ng/mL. Although red blood cell concentrates and intravenous iron have been substituted every month for years, body iron stores remain depleted. Diagnostics have included several esophago-gastro-duodenoscopies, colonoscopies, MRI of the liver, repetitive bone marrow biopsies, psychological analysis, application of radioactive iron to determine intact erythropoiesis, and measurement of iron excretion in urine and feces. Typically, gastrointestinal bleeding is a major cause of iron loss. Surprisingly, intestinal iron excretion in stool in the patient was repetitively increased, without gastrointestinal bleeding. Furthermore, whole exome sequencing was performed in the patient and additional family members to identify potential causative genetic variants that may cause intestinal iron loss. Under different inheritance models, several rare mutations were identified, two of which (in CISD1 and KRI1) are likely to be functionally relevant. Intestinal iron loss in the current form has not yet been described and is, with high probability, the cause of the severe iron deficiency anemia in this patient.

Primary neuroendocrine tumor of the testis and osseous, cardiac, and lymph node metastases in a young patient.

UNLABELLED: A 19-year-old patient was diagnosed with a neuroendocrine tumor (NET) of the testis and suffered from testicular pain and swelling after orchiectomy. After a comprehensive diagnosis, this tumor was shown to be a primary, metastasizing NET of the testis. Primary NETs of the testis are very rare; in the literature, only approximately 60 patients of all ages are mentioned. Less than 20% of the patients show a metastatic spread. In our patient, lymph node, cardiac, and osseous metastases have been found. It was possible to remove the lymph node metastases through surgery, and the osseous metastases were treated by means of radiation. The exploratory thoracotomy revealed a cardiac metastatic spread; however, it was so extended that a radical resection was not possible. Thereafter, the patient received palliative antiproliferative therapy with the somatostatin analogue lanreotide in the form of monthly subcutaneous injections. This treatment resulted in a stable disease situation. RESULT: It is possible to administer lanreotide autogel in order to control the growth of the tumor in a young patient with a metastasizing primary NET of the testis with an impossible curative resection of the metastases.