Background: The TEMPI syndrome consists of five distinct clinical features: telangiectasias (T), erythrocytosis with elevated erythropoietin (EPO) levels (E), monoclonal gammopathy (M), peri-nephric fluid collections (P), and intrapulmonary shunting (I). The etiology, pathogenesis, and prevalence of this ultrarare syndrome is still being elucidated.
Case Presentation: A 57-year old man was being investigated for secondary erythrocytosis. On examination he had telangiectasias over his trunk. His workup revealed high serum EPO levels, a monoclonal paraprotein band on serum protein electrophoresis and Immunofixation, peri nephric fluid on CT abdomen, and evidence of intrapulmonary shunting on arterial blood gas and an echocardiogram with bubble study. He fulfilled the diagnostic criteria for TEMPI syndrome. For reasons of worsening dyspnea, he initiated treatment and received two cycles of bortezomib, cyclophosphamide, and dexamethasone chemotherapy. Treatment was discontinued as he developed steroid induced myopathy. Planning is underway for the patient to receive daratumumab monotherapy.
Conclusion: Uptil now, 23 cases have been reported in the literature from different countries across the globe. Plasma cell directed therapies including bortezomib-based regimens, daratumumab monotherapy, lenalidomide, and autologous hematopoietic stem cell transplantation in few patients have resulted in dramatic clinical responses. Thoroughly investigating patients who present with secondary erythrocytosis along with other relevant findings can help us identify more patients with TEMPI syndrome. Case reports of this ultrarare disorder from across the globe can help us in better understanding and treatment of this disease.
Key words: Keywords: Case report, TEMPI, erythrocytosis, monoclonal gammopathy, peri nephric fluid, telangiectasias, intrapulmonary shunting
|
