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TEMPI Syndrome
A rare condition with Telangiectasias, Erythrocytosis, Monoclonal gammopathy, Perinephric fluid collections, and Intrapulmonary shunting.
Overview
TEMPI syndrome is a rare and recently described multisystem disorder characterized by a unique constellation of clinical features. The acronym “TEMPI” stands for five hallmark findings: Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric fluid collectionsIntrapulmonary shunting. First identified in 2011, TEMPI syndrome has been reported in only a small number of patients worldwide. Due to its rarity and overlap with other conditions, diagnosis is often delayed or missed entirely. Recognizing the pattern of symptoms is crucial, as targeted therapy can lead to dramatic improvement.
Causes
The precise cause of TEMPI syndrome is unknown. However, it is believed to be related to a plasma cell dyscrasia, a condition in which abnormal plasma cells produce a monoclonal protein (M-protein), similar to what is seen in multiple myeloma or monoclonal gammopathy of undetermined significance (MGUS). The monoclonal gammopathy is thought to drive a series of downstream effects, such as overproduction of erythropoietin and vascular abnormalities. The exact pathophysiological mechanisms linking these features remain under investigation, but immune-mediated and paraneoplastic processes are strongly suspected.
Symptoms
The clinical presentation of TEMPI syndrome is variable but typically includes the following five cardinal features:
Telangiectasias – Prominent, dilated small blood vessels visible on the skin, particularly on the face, trunk, and extremities.
Erythrocytosis – Elevated red blood cell count and hemoglobin levels, often accompanied by high serum erythropoietin concentrations.
Monoclonal gammopathy – Presence of a monoclonal protein (M-protein) detected in blood or urine, usually of the IgG or IgA class.
Perinephric fluid collections – Fluid accumulation around the kidneys, which may be identified incidentally on imaging or cause flank discomfort.
Intrapulmonary shunting – Abnormal blood flow within the lungs that bypasses oxygenation, leading to hypoxia and difficulty breathing, especially during exertion.
Additional symptoms may include fatigue, headaches, dizziness, and mild kidney impairment. The condition may be mistaken for polycythemia vera, multiple myeloma, or hereditary telangiectasia syndromes.
Diagnosis
Diagnosing TEMPI syndrome requires a high index of suspicion and a multidisciplinary approach. There are no established diagnostic criteria, but identification of the five core features supports the diagnosis. The workup typically includes:
Complete blood count (CBC) – Reveals elevated hemoglobin and hematocrit (erythrocytosis).
Serum erythropoietin levels – Markedly elevated, distinguishing it from polycythemia vera, where levels are low or normal.
Serum protein electrophoresis (SPEP) and immunofixation – To detect and characterize monoclonal proteins.
Imaging studies – CT or MRI to visualize perinephric fluid collections.
Contrast echocardiography or bubble study – To detect intrapulmonary shunting and evaluate oxygenation status.
Skin examination – To assess for telangiectasias.
Bone marrow biopsy – May reveal abnormal plasma cell proliferation and help rule out multiple myeloma.
Because of symptom overlap with other hematologic and vascular disorders, careful exclusion of other diagnoses is essential.
Treatment
There is no standardized treatment protocol for TEMPI syndrome due to its rarity. However, case reports and series have shown that therapies targeting the underlying monoclonal plasma cell clone can be highly effective. Treatment strategies may include:
Proteasome inhibitors – Such as bortezomib, which have shown remarkable success in improving symptoms and reversing many of the syndrome’s manifestations.
Immunomodulatory drugs – Like lenalidomide or thalidomide, often used in combination with dexamethasone.
Corticosteroids – Help reduce inflammation and support immunosuppressive therapy.
Autologous stem cell transplant – May be considered in selected patients with more advanced or refractory disease.
Supportive care – Includes oxygen therapy for hypoxia, periodic drainage of perinephric fluid if symptomatic, and phlebotomy or erythrocytapheresis if erythrocytosis is severe.
Early initiation of plasma cell-directed therapy is associated with rapid and often dramatic improvement in all major features of the syndrome.
Prognosis
The prognosis of TEMPI syndrome is variable but can be favorable with timely diagnosis and appropriate therapy. Key prognostic insights include:
Response to treatment – Most reported patients show significant or complete resolution of symptoms when treated with bortezomib-based regimens.
Relapsing course – Some patients may experience relapse after initial remission, necessitating re-treatment or long-term therapy.
Long-term monitoring – Due to the potential for recurrence or transformation into a more aggressive plasma cell disorder, regular follow-up is essential.
Quality of life – Can be significantly improved with appropriate therapy, as many of the debilitating symptoms (e.g., hypoxia, fatigue) are reversible.
As research continues and awareness grows, outcomes for patients with TEMPI syndrome are expected to improve through earlier detection and targeted therapeutic approaches.
Medical Disclaimer
The information provided on this page is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.