Case Report: The first reported case of pulmonary alveolar proteinosis with myasthenia gravis in a 27-year-old patient [version 2; peer review: 2 approved, 1 approved with reservations]

• Published in: F1000 research Vol. 11; p. 1439
• Main Authors: Mejri, Islam, Ben Hmida, Lenda, Kacem, Maroua, Msalmani, Mariem, Snène, Houda, Blibech, Hana, Ayadi, Aida, Zaouali, Jamel, Moatemri, Zied
• Format: Journal Article
• Language: English
• Published: London Faculty of 1000 Ltd 2022; F1000 Research Limited; F1000 Research Ltd
• Subjects: Alveoli; Antibodies; Autoantibodies; Autoimmune diseases; Azathioprine; Biopsy; Bronchoalveolar lavage; Bronchus; Carbon monoxide; Case Report; Case reports; Chest; Clinical trials; Colony-stimulating factor; Congenital diseases; Corticosteroids; COVID-19; Diplopia; Disease; Dyspnea; eng; GM-CSF antibodies; Granulocyte-macrophage colony-stimulating factor; Hypotheses; Immune clearance; Immunological diseases; Infections; Lavage; Leukocytes (eosinophilic); Lung diseases; Lupus; Muscles; Myasthenia gravis; Neuromuscular junctions; Patients; Pulmonary alveolar proteinosis; Pyridostigmine; Respiration; Rituximab; Steroids; Surfactants; Whole lung lavage; Rituximab; Myasthenia gravis; Pulmonary alveolar proteinosis; GM-CSF antibodies; Bronchoalveolar lavage; Whole lung lavage
• ISSN: 2046-1402; 2046-1402
• DOI: 10.12688/f1000research.127299.2

Background: Pulmonary alveolar proteinosis is a very rare diffuse lung disease characterized by the accumulation of amorphous and periodic acid Schiff-positive lipoproteinaceous material in the alveolar spaces due to impaired surfactant clearance by alveolar macrophages. Three main types were identified: Autoimmune, secondary and congenital. Pulmonary alveolar proteinosis has been previously reported to be associated with several systemic auto-immune diseases. Accordingly, we present the first case report of pulmonary alveolar proteinosis associated with myasthenia gravis. Case: A 27-year-old female patient, ex-smoker, developed a dyspnea on exertion in 2020. The chest X-ray detected diffuse symmetric alveolar opacities. Pulmonary infection was ruled out, particularly COVID-19 infection. The chest scan revealed the "crazy paving" pattern. The bronchoalveolar lavage showed a rosy liquid with granular acellular eosinophilic material Periodic acid-Schiff positive. According to the lung biopsy results, she was diagnosed with pulmonary alveolar proteinosis. The granulocyte macrophage colony-stimulating factor autoantibodies were negative. Nine months later, she was diagnosed with bulbar seronegative myasthenia gravis, confirmed with the electroneuromyography with repetitive nerve stimulation showing significant amplitude decrement of the trapezius and spinal muscles. She was treated with pyridostigmine, oral corticosteroids and azathioprine. Given the worsening respiratory condition of the patient, a bilateral whole lung lavage was performed with a partial resolution of symptoms. Thus, this previously unreported association was treated successfully with rituximab, including improvement of dyspnea, diplopia and muscle fatigability at six months of follow-up. Conclusions: This case emphasizes on the possible association of auto-immune disease to PAP, which could worsen the disease course, as the specific treatment does not exist yet. Hence, further studies are needed to establish clear-cut guidelines for PAP management, particularly when associated to auto-immune diseases.