Pulmonary alveolar microlithiasis: A rare disease treated with lung transplantation, first case from India

Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive condition characterized by widespread alveolar deposition of calcium microliths. A mutation in the SLC34A2 gene in the alveolar Type II pneumocytes is responsible for decreased phosphate clearance and accumulation of calcium as spherules in the alveoli. The presence of this gene in other organs is responsible for the systemic phenotype of the disease. PAM is characterized by the lack of defining symptoms such as cough and progressive dyspnea until it reaches the stage of cor pulmonale and presents with features of respiratory and right ventricular (RV) failure. Radiologically, it is characterized by intense calcification in the lung parenchyma producing specific signs such as the “sandstorm appearance” in the early stages to the “white out lung” with “black pleura sign” in the later stages of the disease. While conventional therapy has not been successful at treatment, bilateral lung transplantation offers to be the only effective remedy. In this report, we present the case of a 54-year-old female who presented in the stage of respiratory and RV failure, with oxygen and noninvasive ventilation (NIV) dependence. She was treated with bilateral lung transplantation. Postoperatively, she was monitored closely for immunosuppression, prophylactic anti-infective measures, and bronchoscopies to evaluate for airway complications. The patient gradually improved and was discharged from the hospital without any need for oxygen or NIV.

A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis

“…In advanced disease, lung transplantation is the only effective therapy and bilateral lung transplant is preferred to unilateral lung transplantation as persistent shunting of blood through the lung may cause persistent intrapulmonary shunts. [ 21 ] Jackson et al . [ 22 ] in single lung transplantation for PAM patients reported post-lung transplantation survival without recurrence for 15 years.…”

Pulmonary alveolar microlithiasis: Blizzard of lung

“…Lung transplantation has proven to be successful in end stage disease with no report of recurrence [16]. Recently, the first case of bilateral lung transplantation performed in India was reported with successful outcome and no recurrence post 1 year of transplant [17]. Patients of PAM have highly variable course of illness with some remaining stable for decades and others developing pulmonary fibrosis.…”

Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature

“…Pulmonary alveolar microlithiasis (PAM) is a fairly rare lung disease which is characterized by the deposition of alveolar calcium and phosphate in the lung tissues bilaterally and predominantly affecting the lower and middle lung zones. The etiology and pathogenesis are not completely understood [ 1 , 2 ].…”