IRIDA Phenotype in TMPRSS6 Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology.

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive inherited form of iron deficiency anemia characterized by discrepantly high hepcidin levels relative to body iron status. However, patients with monoallelic exonic TMPRSS6 variants have also been reported to express the IRIDA phenotype. The pathogenesis of an IRIDA phenotype in these patients is unknown and causes diagnostic uncertainty. Therefore, we retrospectively summarized the data of 16 patients (4 men, 12 women) who expressed the IRIDA phenotype in the presence of only a monoallelic TMPRSS6 variant. Eight unaffected relatives with identical exonic TMPRSS6 variants were used as controls. Haplotype analysis was performed to assess the (intra)genetic differences between patients and relatives. The expression and severity of the IRIDA phenotype were highly variable. Compared with their relatives, patients showed lower Hb, MCV, and TSAT/hepcidin ratios and inherited a different wild-type allele. We conclude that IRIDA in monoallelic TMPRSS6-affected patients is a phenotypically and genotypically heterogeneous disease that is more common in female patients. We hypothesize that allelic imbalance, polygenetic inheritance, or modulating environmental factors and their complex interplay are possible causes. This explorative study is the first step toward improved insights into the pathophysiology and improved diagnostic accuracy for patients presenting with IRIDA and a monoallelic exonic TMPRSS6 variant.

Gastrointestinal and extragastrointestinal stromal tumors: report of two cases and review of the literature.

We present two cases, one of a gastrointestinal stromal tumor (GIST) in the stomach and one of an extragastrointestinal stromal tumor (EGIST) in the hepatogastric ligament, which were discovered as incidental findings during computed tomography (CT) scans performed for other reasons. In both cases the diagnosis of the tumor was confirmed histologically and immunohistochemically. During the follow-up CT examinations these tumors proved to have a completely different natural course. The first case refers to an 82-year-old male patient with GIST of the stomach who refused to be operated and was followed by CT scans for a 4-year period. This patient did not show any significant changes in the morphology, size and density of the lesion. The second case refers to a 58-year-old female patient with EGIST of the hepatogastric ligament who presented with simultaneous liver metastases and remained healthy for 2 years after surgical resection, but developed local recurrence later. As a conclusion, both GISTs/EGISTs can be revealed as incidental findings in a CT scan performed for other purposes. Moreover, an untreated GIST located in the stomach can remain unchanged and without metastatic lesions for a long period of time, as in our case for a 4-year period. To our knowledge, this is the first report in the literature in whom a GIST was proved to remain almost unchanged for many years without any treatment, and we therefore attempt a further review of the current literature on stromal tumors.

A case of pneumoperitoneum and retropneumoperitoneum without bowel perforation due to extensive intestinal necrosis as a complication to chemotherapy: CT evaluation.

Acute intestinal ischemia continues to be a challenging diagnostic problem with high mortality. We describe a rare case of acute intestinal necrosis, due to vasculitis, related with chemotherapy. A patient was examined in our emergency department, presenting with abdominal pain. Three months before he had undergone an operation for lung carcinoma (lobectomy) and received chemotherapy. CT of the abdomen demonstrated free air in 10 different locations: hepatic part of the portal vein, branches of mesenteric veins, femoral and iliac veins, the bowel wall, peritoneal cavity and retroperitoneal space, abdominal muscles, inguinal canals, meso-sigmoid space, and in the para-rectal space. Moreover, pathological findings revealed that the free air in the peritoneum and retropneumoperitoneum occurred without intestinal perforation, but with transudation through the necrotic bowel wall. This is a rare complication of chemotherapy. This case refers to the unusual CT findings which appeared in this patient. The key to a better outcome is early diagnosis of this condition and the CT examination of the abdomen plays an important role.

An emergency diagnostic dilemma: a case of Yersinia enterocolitica colitis mimicking acute appendicitis in a beta-thalassemia major patient: the role of CT and literature review.

The role of computed tomography (CT) scanning in a case of Yersinia enterocolitica (YE) enteritis mimicking acute appendicitis in a 34-year-old female patient with beta-thalassemia major is presented. Although the abdominal CT findings on admittance were indicative of acute appendicitis (enlargement of the appendix and thickening of its wall), making appendectomy a likely treatment option, a second CT scan 3 days later was diagnostic for infectious colitis (bowel wall thickening, ulcerations of the colonic mucosa, and fat stranding), and an unnecessary appendectomy was thus avoided. The diagnosis of YE colitis was later confirmed by serology tests.