TEMPI syndrome D47.2

Sykes et al. 2011

TEMPI is the acronym for "Teleangiectases, Erythrocytosis with elevated Erythropoietin Monoclonal Gammopathy perinephric Fluid Collection and Intrapulmonary Shunting" and refers to an acquired, rare, complex syndrome characterized by five features (see naming):

• Teleangiectasias
• elevatederythropoietin and erythrocytosis
• monoclonalgammopathy
• perinephricfluid collections
• intrapulmonaryshunt.

Dermatologically, the clinical picture is characterized by telangiectasias on the face, trunk, and arms.

The pathophysiology of multisystem disease is largely unknown to date (Sun C et al. 2021). However, the symptoms may disappear completely after specific treatment of the gammopathy. Thus, the hypothesis that the monoclonal antibody is causative and pathogenic is supported (Sykes DB et al. 2020).

Whole-genome sequencing (WGS) revealed somatic single nucleotide variants, including SLC7A8, NRP2, and AQP7. Complex structural variants of chromosome 2 were found, particularly in regions containing some putative oncogenes. Of potential clinical relevance was the identification of a duplication of 22q11.23, and the expression of the gene "Macrophage Migration Inhibitory Factor" (MIF) localized there. This gene was significantly upregulated in patients with TEMPI syndrome (Sun C et al. 2021).

Bortezomib-based chemotherapy, daratumumab monotherapy, and autologous hematopoietic stem cell transplantation can lead to regression of most manifestations (Zhang X et al. 2018).

1. Sun C et al (2021) Whole-genome sequencing suggests a role of MIF in the pathophysiology of TEMPI syndrome. Blood Adv 5: 2563-2568.
2. Sykes DB et al (2020) The TEMPI syndrome. Blood 135: 1199-1203.
3. Zhang X et al (2018) TEMPI syndrome: erythrocytosis in plasma cell dyscrasia. Clin Lymphoma Myeloma Leuk 18:724-730.