Abnormalities in C-type lectin-like receptor 2 in a patient with Gorham-Stout disease: the first case report

Saori Oishi; Nagaharu Tsukiji; Takahiro Segawa; Katsuhiro Takano; Norio Hasuda; Katsue Suzuki-Inoue

doi:10.1016/j.rpth.2023.102273

Abnormalities in C-type lectin-like receptor 2 in a patient with Gorham-Stout disease: the first case report

Res Pract Thromb Haemost. 2023 Nov 23;8(1):102273. doi: 10.1016/j.rpth.2023.102273. eCollection 2024 Jan.

Authors

Saori Oishi¹, Nagaharu Tsukiji¹, Takahiro Segawa², Katsuhiro Takano¹, Norio Hasuda³, Katsue Suzuki-Inoue¹

Affiliations

¹ Department of Clinical and Laboratory Medicine, Faculty of Medicine, University of Yamanashi, Japan.
² Center for Life Science Research, University of Yamanashi, Japan.
³ Department of Surgery, University of Yamanashi, Japan.

Abstract

Background: Gorham-Stout disease (GSD) is a form of lymphangiomatosis of unknown etiology, characterized by abnormal distribution of lymphatic vessels. Platelets and lymphangiogenesis are closely related via C-type lectin-like receptor 2 (CLEC-2)/podoplanin.

Key clinical question: Despite similarities between abnormal lymphatic vessels in CLEC-2-deficient mice and patients with GSD, whether CLEC-2 on platelets is involved in GSD pathogenesis is unknown.

Clinical approach: We examined CLEC-2 expression in platelets of a patient with lethal GSD. Most of the patient's platelets expressed aberrant CLEC-2 that was not detectable by certain monoclonal antibodies for human CLEC-2. Further, this population was not activated by a CLEC-2-activating snake venom, rhodocytin. Possible causes of abnormal CLEC-2 including anti-CLEC-2 autoantibodies, podoplanin binding to CLEC-2, and pathogenic CLEC1B gene alteration were excluded.

Conclusions: We believe that this is the first report of a patient with structurally and functionally abnormal CLEC-2. CLEC-2 abnormality may be associated with dysregulated lymphangiogenesis in GSD.

Keywords: CLEC-2; Gorham-Stout disease; lymphangiomatosis; lymphatic vessels; platelets.

Publication types

Case Reports