Refractory serositis in Gorham-Stout syndrome.

Area of Science:

• Rare diseases
• Skeletal disorders
• Oncology

Background:

• Gorham-Stout syndrome (GSS) is a rare, heterogeneous disorder.
• Traditionally, GSS is characterized by progressive bone destruction.
• A subset of GSS patients presents with serous effusion as the initial symptom.

Purpose of the Study:

• To investigate the clinical characteristics of GSS patients presenting with serous effusion as the first symptom.
• To compare the clinical features of GSS with initial serous effusion versus initial bone destruction.
• To evaluate treatment responses in GSS patients with serous effusion.

Main Methods:

• Retrospective cohort study of 23 GSS patients.
• Patients categorized into 'serous group' (initial effusion) and 'bone group' (initial bone destruction).
• Demographic, clinical, laboratory, and imaging data were collected and analyzed.

Main Results:

• The serous group (10 patients) had shorter disease duration and lower exercise tolerance compared to the bone group (13 patients).
• Serous effusion patients showed similar bone involvement rates despite less bone pain.
• Sirolimus showed promise in managing refractory serous effusions, while bisphosphonates were effective for bone stability.

Conclusions:

• Serous effusion represents a potential novel phenotype of Gorham-Stout syndrome.
• Early identification and management of serous effusion are crucial.
• Sirolimus may offer a therapeutic option for refractory serous effusions in GSS.