Severe coronavirus disease 2019 (COVID-19) is known to manifest in two phases, with a potential worsening in the second week. The pathophysiology of the first phase is expected to be heavily influenced by viral replication while the second phase is thought to be primarily characterized by systemic inflammation. We present the case of a 42-year-old man hospitalized for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection with a history of Philadelphia-positive chronic myeloid leukemia, diagnosed seven months earlier, proposed to bone marrow allotransplantation after refractory imatinib and dasatinib treatment. After an initial clinical and laboratory improvement, the patient got worse. A pulmonary CT scan showed worsening ground-glass opacities and multiple bilateral consolidations. Neutropenia was resolved, and on the same day, the patient developed progressive respiratory failure with rapidly increasing oxygen demand and distributive shock, requiring mechanical ventilation. Acute respiratory distress syndrome (ARDS) induced by paradoxical COVID-19 immune reconstitution inflammatory syndrome (IRIS) following chemotherapy-induced aplasia was equated. High-dose corticosteroid therapy was rapidly effective. IRIS occurs in patients with severe immunosuppression in response to rapid immune reconstitution and results in an uncontrolled inflammatory response to infectious agents that cause tissue damage. The inflammation associated with both IRIS and COVID-19 shares a common path in terms of immunological response. We hypothesize that in our patient, a hyperinflammation overlap exerted a synergistic effect, leading to the worsening of the disease.
Boerhaave's syndrome (BS) is a non-iatrogenic spontaneous esophageal perforation that, if not appropriately recognized and managed, can cause localized infections such as mediastinitis, pneumonia, and empyema, as well as systemic infections with significant morbidity and mortality rates. An autonomous 83-year-old male presented to the emergency department with a three-day history of behavioral changes. Three days earlier, the patient had a self-limited episode of cough, nonspecific thoracalgia, palpitations, prostration, and pallor. On physical examination, he was alert but had temporal disorientation, hypoxemia, and pulmonary auscultation with abolished breath sounds in the middle third of the left chest. Laboratory tests showed hypoxemia, elevated C-reactive protein (28.2 mg/dL), and D-dimer (3.28 µg/mL). A chest X-ray revealed periaortic small bubbles, left atelectasis, and left pleural effusion. Computed tomographic angiography of the chest showed infra-carinal esophageal rupture, small bubbles of the anterior pneumomediastinum, and a loculated left pleural empyema. Mediastinitis and empyema due to BS were assumed. He underwent left thoracic drainage, broad-spectrum antibiotics, and the placement of a surgical esophageal prosthesis. He was discharged after 48 days. The condition known as BS is frequently misdiagnosed, mostly as a result of the lack of a preexisting pathological background and the wide array of potential symptoms that may manifest. The diagnosis in this particular case was rendered particularly complex due to the combination of an unusual presentation and a delayed seeking of medical attention. Against all expectations, our patient was successfully treated.
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy. After exclusion of gastrointestinal etiologies, IRIDA diagnosis was suspected and a novel mutation in the TMPRSS6 gene was identified. It was found in intron 11 (c.1396+4 A>T) and seems to affect the gene expression. In addition, 3 polymorphisms already associated with a higher risk of developing iron deficiency anemia were also found (D521D, V736A, and Y739Y). Our case reports an undescribed mutation causing IRIDA and supports the hypothesis that this clinical syndrome may be more common than previously thought and its genetics more heterogeneous than initially described.
