Alveolar proteinosis

Classification according to ICD-10
J84.0	Alveolar and parietoalveolar disease states Alveolar proteinosis
ICD-10 online (WHO version 2019)

Microfoto of alveolar proteinosis. HE staining .

The alveolar is also known as pulmonary alveolar proteinosis or Phospholipoproteinose. The English name is pulmonary alveolar proteinosis (PAP). The disease is rare and has a largely unknown etiology. The alveolar space is filled with cell-free, amorphous, eosinophilic, lipid-rich material due to a disruption of the surfactant mechanism . Men get sick more often than women, mostly in middle adulthood. The disease can occur clinically undetected, spontaneous remissions are possible. It occurs congenitally, in childhood, or even in middle adulthood.

Alveolar proteinosis was first described in 1958 by the doctors Samuel Rosen, Benjamin Castleman, and Averill Abraham Liebow .

Clinical picture

The main symptoms that are common are shortness of breath and coughing . In the respiratory sounds are crackles audible. Amazingly, the cough is unproductive, there is only a small amount of coughing. Weight loss and weakness are common, in severe cases cyanosis is observed. In adults, the disease begins over several weeks or months with slowly increasing symptoms. Because the protein-containing secretion in the alveoli is a good breeding ground, bacterial or mycotic pneumonia sometimes occurs .

Etiology and pathogenesis

The cause of the disease are metabolic disorders that lead to the accumulation of surfactant, in that there is a pathological reuptake of the phospholipids via the alveolar film and the phagocytic capacity of the alveolar macrophages is overloaded. Congenital forms are due to new genetic mutations and are usually fatal in infancy. Mutations of the surfactant protein B gene and for GM-CSF are described. Acquired disorders of surfactant metabolism are referred to as secondary alveolar proteinoses. They arise from pulmonary infections, immunological diseases. In the case of tumor diseases and chronic dust exposure (aluminum, quartz), secondary alveolar proteinoses can also occur.

Findings

The chest x-ray shows bilateral symmetrical infiltrations , similar to interstitial pulmonary edema or diffuse pulmonary framework disease . Butterfly-shaped changes are also observed.

The high-resolution computed tomography shows pioneering dense alveolar infiltrates with clear bronchopneumograms .

Lung function is associated with severe gas exchange disturbances and hypoxemia , reduced CO transfer factor and signs of pulmonary shunts with moderately restrictive ventilation problems without any significant obstruction .

Tumor markers and surfactant characteristics are changed in specific patterns. In the sight glass, bronchoalveolar lavage shows a milky-cloudy liquid with PAS- positive sediment, which is a typical feature with its multiple layers.

In advanced cases, polyglobules and an increase in lactate dehydrogenase (LDH) are found.

therapy

A drug therapy of the causal disease process is unknown, treatment is only given if significant symptoms occur, then therapeutic bronchoalveolar lavage is carried out in the case of primary alveolar proteinosis . This is done with many liters of isotonic rinsing liquid under general anesthesia.

genetics

The disease has genetic causes, at least in the congenital form or in childhood. In white settlers on the island of Réunion, the disease occurs more frequently in the child form, which has promoted research into this genetic basis.

literature

• Matthias Griese: Molecular basis and clinic of pulmonary alveolar proteinoses. In: Dtsch Arztebl. 2002; 99, p. A 1013-1023 [issue 15]

• Joachim Müller-Quernheim: Interstitial Lung Diseases. Thieme, Stuttgart 2003, ISBN 3-13-132281-0 .

Individual evidence

1. ↑ JF Seymour, JJ Presneill: Pulmonary alveolar proteinosis: progress in the 44 years first . In: Am. J. Respir. Crit. Care Med. Volume 166 , no. 2 , July 2002, p. 215-235 , doi : 10.1164 / rccm.2109105 , PMID 12119235 .
2. ^ SH Rosen, B. Castleman, AA Liebow: Pulmonary alveolar proteinosis. In: New England Journal of Medicine. 1958; 258, pp. 1123-1142. PMID 13552931 .
3. ↑ W. Böcker, H. Denk, Ph. U. Heitz, H. Moch: Pathology. 4th, completely revised Edition, Munich 2008, ISBN 978-3-437-42382-6 , p. 627.

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !