Gorham’s Disease: A Case of Vanishing Ribs and Its Effective Treatment with Sirolimus

Abstract

Introduction: Gorham’s disease, also known as Gorham-Stout syndrome or the vanishing bone disease, is a rare clinical entity characterized by a non-neoplastic proliferation of vascular and/or lymphatic vasculature with resultant osteolysis of adjacent bone1.With just over 200 reported cases, the etiology of Gorham’s disease is no better understood than when originally described by Dr. Jackson in 18382. Due to the rarity of Gorham’s disease, no standard treatment algorithm exists. Many therapeutic options have been proposed, however, the efficacy and success of these options is limited due to the lack of randomized controlled trials.Case Presentation: Our patient is a 10 year old Caucasian female with past medical history significant for abnormal CXR (8months prior) showing absence of right sided 9th rib, who presented with right lateral abdominal pain, swelling and erythema. She denied fever, shortness of breath, malaise, decreased appetite, weight loss, recent travel, TB exposure or recent trauma. Laboratory work showed a normal CBC, BMP, LFTs, lipase, PT/PTT, and urinalysis. CT scan of the abdomen showed a right side pleural effusion as well as edema and fluid in the right anterior abdominal wall and subcutaneous fat. A chest tube was placed and 1.5 liters of fluid drained. An infectious and oncologic workup was initiated. Chest tube output was shown to be chylous and rib radiographs demonstrated absence of the complete right ninth rib, partial absence of the right eighth and tenth ribs. A rib biopsy was performed and showed of lymphatic proliferation with erosion/effacement of surrounding bone with no increased or abnormal osteoclastic activity, and no evidence of infectious or malignant etiology. This confirmed the previously presumed diagnosis of Gorham’s Disease.Management and Outcome: Our patient was initially treated with bisphosphonate and interferon alpha 2b with minimal success. It was not until initiation of treatment and achieving a steady state of sirolimus that her disease was able to be controlled. She is now over two year in remission and continues on sirolimus therapy.Disccussion:The rare diagnosis of Gorham disease unveils the difficulty in treating vascular and lymphatic malformations that medical providers encounter. The successful use of sirolimus in our patient adds another potentially useful medication in the treatment of vascular malformations. There are clinical trials currently being conducted to evaluate the safety and efficacy of sirolimus use in complex vascular malformations. 1.Franchi, A, Bertoni, F, Bacchini, P, Mourmouras, V, & Miracco, C. CD105/endoglin expression in Gorham disease of bone. J Clin Pathol. 2009;62:163–167.2.Jackson JBS. A boneless arm. Boston Med Surg J. 1838;18:368-369. DisclosuresNo relevant conflicts of interest to declare.