A Case Report of Larsen's Syndrome, Antiphospholipid Syndrome, Diaphragmatic Hernia, and a Colon Polyp: A Hidden Association or a Mere Coincidence.

Abstract

Larsen's syndrome is an exceedingly rare and debilitating skeletal disorder characterized by multiple bony deformities and joint contractures. A 47-year-old female grappled with its severe manifestations, including functional quadriplegia, limb atrophy, and various orthopedic surgeries. This is the only reported case of the concurrent presence of antiphospholipid antibody syndrome (APLA) and Larsen's syndrome. While Larsen's syndrome's genetic underpinnings are known to involve filamin B (FLNB) gene mutations, this patient's distinct presentation and complex clinical history added layers of intrigue. Intriguingly, APLA predisposes individuals to thrombotic events, but the patient's manifestation with rectal bleeding with normal coagulation parameters introduced an unexpected twist. Despite the absence of clear causative links, this case highlights the rarity of encountering Larsen's syndrome and APLA concurrently. Their potential interactions and mutual influence remain largely unexplored, underscoring the need for more research in this domain. Intricacies also emerged in the management of APLA within a surgical context. The decision to transition between anticoagulants underscores the necessity of individualized and comprehensive care for patients grappling with multiple comorbidities. It raises questions about the potential overlap between Larsen's syndrome and connective tissue diseases, like Marfan's syndrome, that warrant further exploration. The case also emphasizes the significance of increased patient mobilization to prevent thrombotic events in those who are bedridden or wheelchair-bound. This extremely unique presentation, featuring a genetic skeletal disorder, an autoimmune condition, recurrent diaphragmatic hernias, and a colon polyp-induced hemorrhage, beckons further research and analysis to unravel any potential associations between these conditions.