A fatal case of TEMPI syndrome, refractory to proteasome inhibitors and autologous stem cell transplantation

Whole-genome sequencing suggests a role of MIF in the pathophysiology of TEMPI syndrome

“…13,14 Of note, we found all the 3 patients had the clinical characteristics of peritoneal fluid and pleural effusion (supplemental Table 5), and previous studies also showed that 5 patients with TEMPI syndrome exhibited peritoneal fluid or pleural effusion. [15][16][17][18][19] In this study, we also found that the level of serum MIF in patient 1 was significantly decreased after treatment with the VCD regimen, which was changed in accordance with the downtrend of PCs, M-protein, hemoglobin, erythropoietin, and the improvement of telangiectasias, perinephric fluid collections, and intrapulmonary shunting (Figure 2E). These studies revealed a possible role of MIF in the development of intrapulmonary shunting, telangiectasias, elevated erythropoietin levels, and perinephric fluid collections, and furthermore, with the association between MIF levels and response to treatment in our patient, supporting that the duplication of 22q11.23 and upregulation of MIF in the monoclonal PCs may be involved in the pathophysiology of TEMPI syndrome.…”

Ocular involvement in TEMPI syndrome

“…To date, a total of 23 cases of TEMPI syndrome have been described worldwide, 25 and to our knowledge, none of the TEMPI cases reported pathologic ocular findings. Not only did our patient had pathologic retinal microvascular damages, these pathologic changes were also visually significant, as both CME and macular ischemia adversely affect vision.…”

TEMPI Syndrome: Update on Clinical Features, Management, and Pathogenesis

“…In those patients who have been tested, dermoscopy showed dilated vessels and red lacuna, while histopathological examination showed no specific changes ( 20 ). Although telangiectasias appeared to be confined to the skin, deep telangiectasias distributed in the ascending colon, cranial bone, and dorsal vertebral bodies have been reported recently in one patient ( 17 ). Of note, patients with severe skin and deep telangiectasias may concurrently have organ telangiectasias, which may lead to a life-threatening hemorrhage event ( 17 ).…”

“…For this reason, many patients have been erroneously diagnosed with polycythemia vera and initiated on treatment of therapeutic phlebotomy or hydroxyurea ( 2 ). In those patients who have been tested, hemoglobin electrophoresis and hemoglobin oxygen affinity testing were normal ( 2 , 17 ). No mutation of JAK2 gene, beta globin gene, and von Hippel-Lindau gene has been identified ( 9 , 17 ).…”

“…With appropriate treatment, the prognosis of patients was generally good. However, TEMPI syndrome could be fatal, especially for those with aggressive disease or relapsed/refractory disease ( 17 – 19 ). This review summarizes the reported clinical characteristics of TEMPI syndrome, as well as discusses the therapeutic options for patients with TEMPI syndrome, including relapsed/refractory cases.…”