Too Much Blood: A Case of the Newly Described TEMPI Syndrome

Abstract

INTRODUCTION: TEMPI syndrome is a newly described multi-system syndrome that manifests five clinical findings: Telangiectasias, Elevated erythropoietin level and erythrocytosis, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. To date, fewer than ten patients have been described with this syndrome. We present a case of a patient who in evaluation for dyspnea was found to meet all features of TEMPI syndrome. CASE PRESENTATION: A 50 year old male with a longstanding history of polycythemia and chronic kidney disease (CKD) due to focal segmental glomerulosclerosis, presented for progressive exertional dyspnea over the past year. Symptoms occurred after climbing one flight of stairs with occasional associated dizziness. Polycythemia was diagnosed 10 years prior and managed with serial phlebotomy and hydroxyurea. There was no history of heart, lung or liver disease. Family history was significant for a father with plolycythemia. Social history was negative for exposures, tobacco, alcohol or drug use. Physical exam was notable for telangiectasias on the neck/chest, mild digital clubbing and room air saturation of 90%. Rest of clinical exam was unremarkable. Laboratory values revealed hemoglobin of 18.2 g/dL, creatinine of 1.6 mg/dL and erythropoietin of 433 mU/mL (normal 0-19). Room air arterial blood gas revealed PaO2 of 62 mmHg. Chest radiograph and CT were unremarkable. Echocardiogram was without septal defect, although bubble study suggested right-to-left shunting that was estimated 12.3% on V/Q scanning. Abdominal ultrasound showed bilateral perinephric fluid collections. SPEP demonstrated IgG kappa light chain gammopathy. Based on these findings, presumptive diagnosis of TEMPI syndrome was made. After empiric treatment with bortezemib over 8 months, there was reduction in frequency of phlebotomy, mild decrease in the paraproteinemia, and improved intrapulmonary shunting to 10%. DISCUSSION: TEMPI syndrome was originally described in a case series of 6 patients in 2011 with two subsequent case reports. Telangiectasias and errythrocytosis tend to predate the development of intrapulmonary shunting and hypoxemia. The perinephric fluid collections may be a manifestation of lymphatic cysts or lymphangiomata while the gammopathy tends to be IgG kappa light chain with <10% plasma cells on bone marrow biopsy. The pathophysiology is unclear but may be related to the monoclonal gammopathy. Bortezemib, a proteosome inhibitor used primarily for multiple myeloma, has had some success reversing features of TEMPI in four previously reported patients. CONCLUSIONS: TEMPI syndrome is a presumably rare multisystem disorder that may present with hypoxemia.