Lymphangioleiomyomatosis: An unusual age of diagnosis with literature review

Abstract

Lymphangioleiomyomatosis (LAM) is a rare idiopathic disorder of unclear origin, which almost exclusively occurs to women before menopause. It is characterized by nonneoplastic diffuse proliferation of atypical immature smooth muscle cells around small airways and vessels. We report the case of a 64-year-old woman kept for chronic progressive dyspnea related to a diffuse LAM.The discussion includes a literature review that describes the physiopathology, clinical features, chest computed tomography aspects, and differential diagnosis regarding this rare disease.Through this case report, pulmonary LAM should be included in the list of differential diagnoses for cases of pulmonary cystic lesions, even in postmenopausal women.

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis

“…Over 600 female S-LAM patients were initially identified and collected through international solicitation during 2010-2014 from 14 countries (supplementary table S1). S-LAM patients were diagnosed using standard diagnostic criteria by their treating physicians [1][2][3][4][5]7]. Genomic DNA was extracted from saliva using the QIAamp DNA Mini Kit (Qiagen, Hilden, Germany) and 479 S-LAM DNA samples were genotyped with the Infinium OmniExpress-24 version 1.2 BeadChip (Illumina, San Diego, CA, USA), which assesses 716 503 single nucleotide polymorphisms (SNPs) across the entire genome.…”

“…Lymphangioleiomyomatosis (LAM) is a rare aggressive low-grade neoplasm which affects almost exclusively females at reproductive age or older and causes progressive cystic lung destruction leading to fatal respiratory failure in subjects with severe disease [1][2][3][4][5][6]. LAM is characterised by an abnormal proliferation of smooth muscle-like and epithelioid cells in innumerable tiny clusters in the lungs, in association with thin-walled cysts and lung parenchymal destruction [7,8].…”

INTERACTIVE CASE REPORT: Pulmonary Lymphangioleiomyomatosis: Report of Two Cases

“…Hastalar sıklıkla progresif dispne, tekrarlayan pnömotoraks, şilöz effüzyon ve ara sıra olan hemoptizi ile başvurabilirler (3). Hastalığın tanısı doku biyopsisi ile (genellikle akciğerden ve lenf nodların-dan ) hastanın hikayesi ve/veya yüksek rezolüsyonlu bilgisayarlı tomografi kombine edilerek konulur (4 (6). Pnömotoraks ve şilöz plevral effüzyon en sık klinik belirtilerdir.…”