What is the definition of Idiopathic Pulmonary Hemosiderosis?

Idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis). Symptoms can resemble pneumonia and include coughing, coughing up blood (hemoptysis), difficulty breathing, and wheezing. 

The cause of idiopathic pulmonary hemosiderosis is unknown. Diagnosis is based on ruling out other kinds of pulmonary hemosiderosis, and tests may include imaging, laboratory tests, and a lung biopsy. Treatment often includes corticosteroids or other immunosuppressive medications. The prognosis may vary depending on the amount of pulmonary bleeding and age of diagnosis. 

What are the alternative names for Idiopathic Pulmonary Hemosiderosis?

  • Hemosiderosis, pulmonary, with deficiency of gamma-a globulin
  • Alveolar hypoventilation syndrome
  • Pulmonary hemosiderosis

What are the causes for Idiopathic Pulmonary Hemosiderosis?

The exact cause of idiopathic pulmonary hemosiderosis is not well-understood. The term "idiopathic" means that there is not a known cause of a disease. Some researchers suspect that the disease is caused by damage to the capillaries (small blood vessels) of the alveoli (small air sacs in the lungs). It is not known exactly what causes the capillaries to become damaged, but it could be due to an autoimmune response. 

When the capillaries of the alveoli are damaged, blood may collect in the alveoli. While the body can expel most of the collection of blood in the lungs, the frequent bleeds leave behind deposits of iron in storage complexes known as hemosiderin. This accumulation of iron leads to the development of anemia because the blood does not have enough iron. Additionally, the deposits can cause damage to the lungs (pulmonary fibrosis).

What are the symptoms for Idiopathic Pulmonary Hemosiderosis?

The classic symptoms associated with idiopathic pulmonary hemosiderosis include hemoptysis, anemia, and the collection of substances such as iron in the lungs (pulmonary infiltrates). Other symptoms associated with the disease may include coughing, wheezing, difficulty breathing, weakness, fatigue, and a limited ability to exercise. When the disease occurs in children, they may not grow as quickly as they should.

For some people, signs and symptoms of idiopathic pulmonary hemosiderosis begin suddenly, while for others the progression of the disease may be slower. For most, signs and symptoms begin between the age of 1-7 years, but signs and symptoms can begin at any age of life from childhood through adulthood.

What are the current treatments for Idiopathic Pulmonary Hemosiderosis?

The treatment of idiopathic pulmonary hemosiderosis is aimed at managing acute crises and providing long-term therapy. Potential therapies may include:
  • Oxygen supplementation
  • Blood transfusion
  • Supportive respiratory therapy
  • Mechanical ventilation
  • Immunosuppressive therapy, especially corticosteroids
Some individuals with idiopathic pulmonary hemosiderosis may also have celiac disease. For these individuals, a gluten-free diet is recommended in addition to other therapies. 

More detailed information about the treatment of idiopathic pulmonary hemosiderosis can be accessed through Medscape. Click on the following links to learn more about Treatment & Management and Medications.

What is the outlook (prognosis) for Idiopathic Pulmonary Hemosiderosis?

The clinical course of idiopathic pulmonary hemosiderosis varies widely, and it is hard to predict how long symptoms will last. Treatment of the disease may help to alleviate symptoms. Potential factors that could influence the long-term outlook include:

  • Gender: females tend to have a better prognosis then men
  • Age at diagnosis: individuals who were older when they were diagnosed may have a better prognosis

In general, the severity of the disease at the original diagnosis does not necessarily correlate with the time associated with survival. Some people who have idiopathic pulmonary hemosiderosis eventually achieve complete remission. Adults who have the disease are likely to have a better prognosis in terms of the severity of symptoms and the survival time. Adults may also have a better response to treatment, especially corticosteroids. Potential complications of the disease that may be life-threatening include acute massive hemorrhage, progressive pulmonary insufficiency, and right heart failure. 

How is Idiopathic Pulmonary Hemosiderosis diagnosed?

Idiopathic pulmonary hemosiderosis is typically diagnosed by a combination of laboratory tests, imaging, and sometimes a lung biopsy. Diagnosis of the disease is based on ruling out other possible causes of the symptoms, including other types of pulmonary hemosiderosis. The diagnosis of idiopathic pulmonary hemosiderosis may include procedures such as:
  • Complete blood count
  • Analysis of blood serum for antibodies that could indicate other conditions
  • Chest x-ray
  • CT scan
  • Pulmonary function testing
  • Lung biopsy

Is Idiopathic Pulmonary Hemosiderosis an inherited disorder?

There is not a single gene that is known to cause idiopathic pulmonary hemosiderosis. In most cases, there are not multiple affected individuals in a family. However, more than one family member having idiopathic pulmonary hemosiderosis has been reported in some families. In some cases, people who have idiopathic pulmonary hemosiderosis are reported to have family members with other types of autoimmune diseases. Most autoimmune diseases are thought to be caused by a combination of genetic and environmental factors. 
  • Condition: Diffuse Alveolar Hemorrhage and Pulmonary Microangiopathy with Cobalamin C Deficiency
  • Journal: Pediatric pulmonology
  • Treatment Used: Corticosteroids and Methylmalonic Aciduria and Homocystinuria Type C Protein (MMACHC)
  • Number of Patients: 4
  • Published —
This case report describes patients with diffuse alveolar hemorrhage and pulmonary microangiopathy with cobalamin C deficiency.
  • Condition: Idiopathic Pulmonary Hemosiderosis
  • Journal: Indian pediatrics
  • Treatment Used: Early Initiation of Steroid-sparing Drugs
  • Number of Patients: 0
  • Published —
This study reported on hydroxy-chloroquine and azathioprine early in treatment along with steroids in seven children with idiopathic pulmonary hemosiderosis (bleeding in lungs of unknown cause).

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.