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Lymphangioleiomyomatosis ( LAM) : A Clinical Case with Joint Pain

Josep-Ricard MORERA-CASAPONSA, Esther MORENO-ARIÑO, Rosa ALONSO-MARTÍNEZ, Josefa TORRES-MARTÍNEZ, Manuela RODRIGUEZ-DOMÍNGUEZ, Maria-Marta MORERA-CASAPONSA, Xavier BAYONA-HUGUand, Amanecer MOYA-MORENO, Martina FRASNEDI and Laia FORNELLS-VILASECA

Lymph-oleiomyomatosis (LAM) is a rare and chronic disease that mainly affects women of childbearing age. It is characterized by the abnormal proliferation of smooth muscle cells in the lungs, which can lead to the formation of cysts and the destruction of lung tissue.DescripcionThe patient presented with joint pain for no apparent cause. After diagnostic tests, AML was confirmed by high-performance computed tomography (CT) and lung biopsy. Joint pain was attributed to the disease due to the presence of cystic lesions in the lungs and histological confirmation of the disease. Test results: High-resolution CT scan: showed cystic lesions in the lungs compatible with LAM. Lung biopsy: confirmed the presence of smooth muscle cells in the lungs. Treatment plan: – Pharmacological treatment: sirolimus to reduce the progression of the disease and relieve symptoms. – Follow-up: to monitor lung function and detect possible complications.The most relevant problems that a patient with AML may present include: Recurrent pneumothorax: This is one of the most common complications, affecting approximately 69% of patients. It is characterized by repeated episodes of lung collapse that require medical intervention. Chylothorax: Present in approximately 23% of patients, it consists of the accumulation of lymphatic fluid in the pleural space. Hemoptysis: Approximately 20% of patients may present with blood in the sputum. Progressive respiratory problems Renal angiomyolipomas Other less frequent manifestations: Ascites (accumulation of fluid in the abdominal cavity) Pleuropericcardial effusion Chiloptysis (sputum of lymphatic fluid) Chiluria (presence of lymph in the urine)Lymphangioleiomyomatosis (LAM) presents significant diagnostic challenges for several key reasons: Diagnostic challenges of AML Rarity of the disease: Overlapping of symptoms with common conditions. Variable clinical presentation. Radiological similarities with other cystic lung diseases. Initial presentation as isolated pneumothorax Association with Tuberous Sclerosis Complex (TSC) Limited knowledge among healthcare professionalsThis case highlights the importance of considering AML in the differential diagnosis of unexplained joint pain in women of childbearing age. A thorough evaluation and timely diagnosis are crucial to initiate appropriate treatment and improve patients' quality of life.