Hemosiderosis (aka Ceelen-Gellerstedt syndrome) is a rare storage disease of unknown etiology. It is characterized by a triad of symptoms: haemoptysis, lung infiltrates and anemia. What is pulmonary hemosiderosis - what is its mechanism? What tests are ordered to make a diagnosis? Is it possible to cure pulmonary hemosiderosis?

Hemosiderosis( Ceelen-Gellerstedt syndrome ) affects people of all ages, but idiopathic pulmonary haemosiderosis most often occurs in children (the youngest patient had Four months). The family history of the disease was also described.

Hemosiderosis: mechanism and causes

Repeated bleeding into the alveoli leads to anemia. Hemosiderin (iron-storing protein complex) accumulates in the alveoli. Accumulation of iron in the alveoli triggers subsequent reactions that cause lung damage - thinning of the alveolar basement and then interstitial fibrosis of the lungs.

In many patients, it is not possible to determine the cause - then it is called idiopathic haemosiderosis. In some cases, it occurs secondary to other diseases, such as:

  • pneumonia
  • sepsa
  • lung abscess
  • cardiovascular diseases
  • autoimmune diseases (systemic lupus, Goodpasteure's syndrome, polyarteritis nodosa, Wegener's granulomatosis, allergic bronchopulmonary aspergillosis)
  • cancers in the respiratory system
  • drugs
  • toxins

Coexistence of spontaneous pulmonary haemosiderosis and atrophy of intestinal villi or symptomatic celiac disease and hypersensitivity to milk (Heiner's syndrome) have been found in children.

The pathomechanism of intraalveolar bleeding in autoimmune diseases can be presented on the example of Goodpasteure, where there are antibodies against proteins that build the wall of blood vessels, including in the alveoli. When the antibody binds to these proteins (antigens), immune complexes form and the blood vessel wall is destroyed.

Hemosiderosis: Symptoms

The main symptoms are:

  • shortness of breath
  • cough
  • hemoptysis

Wblood count shows anemia.

Disorders of the respiratory poultice together with anemia lead to general weakness, increased fatigue, and slower growth and development in children.

During bleeding into the alveoli, shortness of breath increases significantly, tachycardia appears, the number of breaths increases, skin pale, body temperature increases.

Hemosiderosis: diagnosis

Diagnostics of hemosiderosis includes:

  • laboratory tests (blood count showing microcytran anemia - iron deficiency and testing the level of antibodies to exclude secondary hemosiderosis)
  • imaging tests (chest X-ray, lung tomography - especially HRCT), in which lung infiltration (X-ray) and pulmonary fibrosis or an image similar to alveolar bleeding (HRCT) are visible.

Gastric lavage and bronchoscopy are sometimes performed to obtain hemosiderin-laden macrophages for confirmation.

In the histopathological examination of the lung tissue sample, the changes depend on the stage of the disease. In the initial stages, the pathologist will see coexisting deposits of hemosiderin and macrophages filled with hemosiderin in the microscope slide. As the disease gets worse, lung fibrosis becomes more and more visible.

Hemosiderosis: treatment

In the case of exacerbation of the disease, the action is aimed at relieving symptoms - oxygen therapy, transfusion of blood products in the case of significant anemia, depending on the cause - sometimes the treatment includes the administration of immunosuppressants, in cases of increased bleeding into the alveoli and increasing respiratory failure in patients require a respirator - this is a very high mortality condition.

In cases of secondary haemosiderosis, treatment is based on the proper treatment of the underlying disease.

In the idiopathic form, there is no effective causal treatment - the prognosis is very poor.

In cases of Heiner's syndrome, the symptoms of the disease decreased after the withdrawal of milk from the diet.

Category:

Genetic diseases