Refractory serositis in Gorham–Stout syndrome

Abstract

Background Gorham–Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group of GSS patients with serous effusion as the first symptom. This study aimed to investigate the clinical characteristics of patients with GSS having serous effusion as the first symptom. Methods Patients diagnosed with GSS were identified through the Peking Union Medical College Hospital Medical Record System. The demographic, clinical, laboratory, and imaging data were collected. Patients who first presented with serous effusion were recruited into the serous group, while those with bone destruction were recruited into the bone group. Results Of the 23 patients with GSS enrolled, 13 were in the bone group and 10 in the serous group. The median disease duration was shorter and exercise tolerance was lower in the serous group. Despite less frequent bone pain in the serous group, the frequency of bone involvement was similar to that in the bone group. Patients in the serous group had higher rates of bilateral pleural effusion and multiple serous effusion. However, serous effusion also developed with disease progression in the bone group. Of the 17 patients treated with bisphosphonates, 14 reached bone-stable state. However, 5 out of 10 patients with serous effusion still had refractory effusions after bisphosphonates treatment. Three patients received sirolimus treatment, with an improvement in serous effusion. Seventeen patients were followed up; three patients died, two in the bone group and one in the serous group. Conclusions This study discovered that GSS could first be presented with serous effusion. We believe that this may be a new phenotype of the disease. Sirolimus might help in controlling serous effusion and improving prognosis.

Epidural Hematoma related to lower limb pain and massive liver bleeding in Gorham-Stout disease: A case report

“…[20] Regarding GSD, 2 cases with serous effusion presented with LIC in a previous report. [8] LIC might cause refractory serous effusions such as pleural effusion and bleeding. The presented report showed the features of LIC, an epidural hematoma, and subcapsular liver bleeding.…”

“…The most common symptom of GSD is localized pain in osteolytic lesions. [8,9] Patients with GSD commonly experience osteolysis and a decline in activities of daily living, which leads to pathological fractures. However, the proliferation of lymphangiomatous tissue around the affected lesion can cause various complications, including cerebrospinal fluid (CSF) leakage and chylothorax, leading to symptoms such as headache and dyspnea.…”