tüdfibózis

tüdfibózis is a rare connective tissue disorder noted primarily in recent clinical literature for its distinctive pattern of fibrotic changes in both ocular and systemic tissues. It is classified among fibrosing diseases that involve excessive deposition of extracellular matrix proteins, especially collagen, leading to tissue stiffness and functional impairment. The exact etiology remains unclear; proposed mechanisms include an aberrant fibroblast activation pathway triggered by unknown autoimmune or environmental factors.

Clinical presentations vary but commonly include progressive vision loss due to cataract formation and keratopathy, along with facial skin tightening and joint contractures. Other affected organs may involve the myocardium and gastrointestinal tract, manifesting as arrhythmias or malabsorption. Diagnosis relies on a combination of patient history, ophthalmologic examination, imaging such as MRI to assess soft tissue involvement, and a skin biopsy demonstrating fibroblast proliferation and collagen deposition. Genetic studies have identified mutations in the COL1A1 gene in a subset of patients, although most cases appear sporadic.

Treatment strategies are primarily supportive and focus on managing complications. Pharmacologic agents such as topical steroids and oral colchicine have shown modest efficacy in reducing ocular inflammation. Antifibrotic drugs like pirfenidone are under investigation in small pilot studies. Physical therapy may alleviate joint stiffness. Ophthalmic interventions range from laser surgery for cataracts to corneal grafts in advanced keratopathy. Ongoing research aims to clarify pathophysiology and develop targeted therapies. Because tüdfibózis is uncommon, management is often coordinated in multidisciplinary specialty clinics that include ophthalmology, dermatology, and rheumatology specialists.