Sporadic lymphangioleiomyomatosis in young female patient: A case report and review of the literature

Abstract

INTRODUCTION AND IMPORTANCE: Lymphangioleiomyomatosis (LAM) is a rare disorder of unknown cause which mostly affects young females and involving multi organ system with primarily involving lung. PRESENTATION OF CASE: A 35 year's old female Ethiopian known hypertension patient from Debre Tabor, Ethiopia, Africa; presented with progressively increasing cough with blood tingled sputum of 1-2 Arabic coffee cup per day, progressively increasing exertional shortness of breath and easy fatigability seven years back. Hypertensive and desaturate to level of 88 % at atmospheric air. There was diffuse crackle over posterior 2/3 chest with decrease air entry over lower 1/3 chest bilaterally. There is obstructive airway pattern on Spirometry. Multiple bilateral diffuse uniformly distributed cystic lesions on chest CT scan and angiomyolipoma in the kidneys on abdominal ultrasound. She is on supportive treatment, Budesonide/ Formoterol and amlodipine for the diagnosis of sporadic LAM. CLINICAL DISCUSSION: Sporadic LAM is a rare autosomal dominant disease affecting an estimated 3.4-7.8 per million individuals. While the pathophysiology remains unclear, LAM is thought to involve abnormal proliferation of smooth muscle-like cells, leading to cystic structures in axial lymphatics, lung cysts, and renal angiomyolipomas. Diagnosis is based on European Respiratory Society criteria, and management ranges from supportive care to definitive treatment depending on the patient's condition. CONCLUSION: Sporadic LAM is a disorder affecting multiple organ systems, primarily the lungs, and presents with diverse clinical manifestations. Even though it is difficult to diagnosis without lung biopsy; sporadic LAM can be diagnosed with imaging with compatible history in resource limiting setup.