Studies in the Pathogenesis of Systemic Capillary Leak Syndrome

Summary

Participation Requirements

Description

The systemic capillary leak syndrome (SCLS, Clarkson syndrome) is an exceedingly rare disorder of unknown cause characterized by chronic edema or acute transient, severe episodes of hypotension, hypovolemia, and oliguria. Severe edema results from leakage of fluid and macromolecules (200-900 kDa) in...

The systemic capillary leak syndrome (SCLS, Clarkson syndrome) is an exceedingly rare disorder of unknown cause characterized by chronic edema or acute transient, severe episodes of hypotension, hypovolemia, and oliguria. Severe edema results from leakage of fluid and macromolecules (200-900 kDa) into tissues. Acute SCLS episodes carry a high morbidity and mortality (25-30%). Fewer than 500 cases have been reported worldwide since 1960, although the disease may be underdiagnosed due to the nonspecific nature of the presenting signs and symptoms and the considerable overlap with other shock syndromes including sepsis, anaphylaxis, and angioedema. Approximately 85% of such individuals have a monoclonal gammopathy of unknown significance (MGUS), but the relationship of this finding to disease pathogenesis is unclear. This protocol will focus on the pathogenesis of SCLS. Subjects with documented episodes of capillary leak will be evaluated in order to correlate both clinical and laboratory features that are typical of SCLS. The goal is to identify biological factors and/or genetic and molecular events that may predispose to SCLS episodes. We plan to enroll up to 270 total subjects, in this study, which includes affected subjects, family members, and healthy volunteers. We anticipate that our findings may be a first step toward the development of new targeted therapies.

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