It is All in My Genes: A Case Report of Recurrent Pleural Effusion

Abstract

SESSION TITLE: Pulmonary Manifestations of Systemic Disease 3 SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Pleural effusion is the excessive accumulation of fluid in the pleural space which develops when there is imbalance between fluid formation and fluid removal by lymphatics. CASE PRESENTATION: A 39 year old Yemeni born male with comorbidities of hereditary lymphedema, bilateral hearing loss, left sided pleural effusion status post video assisted thoracoscopic pleurodesis, pericardial effusion status post pericardial window 22 years ago, presented with dyspnea on exertion and right sided back pain for 1 week. Significant family history of consanguinity in his parents and first degree relatives. His sister also had bilateral pleurodesis and pericardial window for similar presentation, but his brother and other cousins only had lymphedema of bilateral lower extremities. Physical examination showed bilateral upper and lower extremity 2+ non-pitting edema, diminished breath sounds over right lungs field with dullness to percussion. Labs were unremarkable. Non-contrast CT Chest showed a large loculated right pleural effusion with compressive atelectasis. Patient underwent right VATS, decortication and talc pleurodesis with improvement in aeration. Pleural fluid analysis revealed lymphocyte predominant exudative effusion, negative cultures for bacteria, fungi, and TB, negative for malignant cells on cytology. Pleural biopsy showed chronic pleuritis with focal mesothelial proliferation and atypia. Patient was successfully discharged home. DISCUSSION: Hereditary lymphedema is an uncommon genetic defect in lymphatic system development, classified by age of onset as- 1) Congenital 2) Lymphedema praecox 3) Lymphedema tarda. Usual manifestations are lymphedema of extremities (lower limbs more commonly affected than upper), sometimes lymphedema involving other areas of body such as face, trunk and larynx. Commonly associated with recurrent cellulitis, yellow nails and hearing loss. In rare instances, patients may develop fluid collection in serous cavities such as pericardial/pleural effusion and ascites.[1] Our patient developed lymphedema at age 4 in his legs, eventually involving his arms. By age 18, he underwent left VATS/pleurodesis and pericardial window. He suffered bilateral hearing loss by age 34. His full sister has the same spectrum of disease but symptoms began at birth. CONCLUSIONS: In addition to pooling of multiple affected cases in this single family tree, lack of clinical, radiological or laboratory evidence of infection and malignancy, we can conclude that etiology of recurrent pleural effusion in our patient is one of the manifestations of lymphedema praecox.[2] Reference #1: http://www.atsjournals.org/doi/abs/10.1164/arrd.1978.117.3.595 Reference #2: http://pubs.rsna.org/doi/pdf/10.1148/82.2.246 DISCLOSURE: The following authors have nothing to disclose: Sandi Khin, Sapan Patel, Keerthana Keshava No Product/Research Disclosure Information