What is Idiopathic Pulmonary Hemosiderosis?
Idiopathic pulmonary hemosiderosis (IPH) is a rare lung disease. People with this condition have ongoing bleeding in the parts of their lungs where oxygen is absorbed, called the alveoli. Over time, this bleeding can cause a number of complications related to breathing and can lead to lasting lung damage.
Doctors aren’t exactly sure what causes IPH, but some think it might be the result of an autoimmune response. This means the body’s immune system is attacking the tiny blood vessels in the alveoli, causing them to bleed. Because this bleeding happens repeatedly, it can lead to permanent damage and serious health problems, including increased risks of disease and death.
The term “idiopathic” means that doctors don’t know what’s causing this repeated bleeding. If a patient is experiencing this type of bleeding and doctors can’t identify a cause, they may diagnose the patient with IPH. However, diagnosing IPH involves ruling out all other possible causes for the bleeding. This process is called a diagnosis of exclusion and requires a detailed investigation into other primary and secondary conditions that could be causing pulmonary hemosiderosis, which is a medical term for bleeding in the lungs.
What Causes Idiopathic Pulmonary Hemosiderosis?
The exact cause of idiopathic pulmonary hemosiderosis (IPH), a lung condition, is unclear and it’s thought to be influenced by a mix of factors. Some potential links include exposure to harmful insecticides (according to studies conducted in rural Greece), premature birth, and exposure to certain fungal toxins.
In the 1990s, a rise in cases of IPH was observed in young infants in several mid-western cities in the US, particularly around Cleveland. Studies investigating this pattern unearthed considerable growth of a toxic mold named Stachybotrys atra in almost all of the homes where these cases occurred. This suggested that exposure to this mold might cause IPH in infants. However, further research couldn’t confirm this link.
Pulmonary hemosiderosis is also associated with rheumatoid arthritis (a type of joint inflammation disease), thyrotoxicosis (an overactive thyroid condition), celiac disease (a gluten sensitivity condition), and autoimmune hemolytic anemia (a disorder where the body’s immune system destroys its own red blood cells), which opens up the possibility that an autoimmune reaction might play a role in this condition.
Risk Factors and Frequency for Idiopathic Pulmonary Hemosiderosis
Idiopathic pulmonary hemosiderosis (IPH) is a rare disease and because of this, we don’t have exact numbers on how many people it affects. Some people thought to have IPH may have actually been misdiagnosed and instead, have a different condition called diffuse alveolar hemorrhage. A study in Sweden back in 1984 estimated that IPH affects about 0.24 out of every million children each year. This estimate was based on data collected from 1950-1979. A later study in Japan put this number slightly higher, at around 1.23 cases per million per year.
The majority of IPH cases – about 80% – occur in children, and most of these cases are diagnosed in the first 10 years of life. About 20% of IPH cases start in adulthood, although we’re not sure if some of these may have actually started in childhood but just weren’t diagnosed. When it comes to gender, childhood-onset IPH affects males and females equally. However, for adult-onset IPH, almost twice as many males are diagnosed compared to females. There have been a few reports of IPH cases clustering within families, which suggests there may be a genetic component to the disease.
- IPH is a relatively rare disease and so we’re not sure of the exact numbers affected.
- Some people thought to have IPH may actually have a different condition called diffuse alveolar hemorrhage.
- A 1984 Swedish study estimated that IPH affects 0.24 out of every million children per year.
- A Japanese study estimated that IPH affects 1.23 out of every million people per year.
- Most cases of IPH (80%) are diagnosed in children, usually within the first 10 years of life.
- About 20% of IPH cases begin in adulthood.
- Childhood-onset IPH affects males and females equally, but adult-onset IPH is diagnosed in almost twice as many males as females.
- Several reports suggest that IPH may have a genetic component because it appears to cluster in families.
Signs and Symptoms of Idiopathic Pulmonary Hemosiderosis
Idiopathic pulmonary hemosiderosis (IPH) is a medical condition that can present in various ways. Some people may experience sudden and severe symptoms such as coughing up blood (hemoptysis) and shortness of breath (dyspnea), while others may have a chronic cough, recurrent episodes of coughing blood, fatigue, anemia (a lack of healthy red blood cells), and slowly worsening shortness of breath. In some cases, the only noticeable symptom is anemia without any other signs. In adults, the symptoms largely affect the respiratory system, but children may show evidence of delayed growth and low red blood cell count.
IPH typically occurs in two phases. The first, an acute phase, involves episodes of bleeding within the air sacs of the lungs (intra-alveolar bleeding) that lead to coughing, breathlessness, hemoptysis, and potential difficulty in breathing. The second, a chronic phase, includes a slow improvement of these symptoms, whether treated or not.
- Diagnosis in the acute phase can be challenging as patients can display a range of symptoms, including respiratory failure, cough, coughing up blood, and worsening anemia. In some cases, a normal examination may be seen.
- Pulmonary hemorrhage causing sudden suffocation has also been reported.
- During the chronic phase, patients may look pale and weak, show signs of weight loss, have an enlarged liver or spleen (hepato-splenomegaly), or exhibit delayed growth. Alternatively, they may appear completely normal.
- Notably, for patients developing fibrosis (scar tissue in the lungs), bilateral crackles (abnormal chest sounds) and finger clubbing (abnormalities of the finger tips) could be observed.
Testing for Idiopathic Pulmonary Hemosiderosis
If you are suspected to have pulmonary hemosiderosis, which is a rare lung disorder, your doctor will likely order a variety of tests.
One of the important tests conducted is a complete blood count. This is used to measure the amount of different types of cells in your blood. People with pulmonary hemosiderosis typically have less red blood cells than normal, described as anemia, but no abnormalities in their platelets, liver or kidney function, or inflammation levels.
Your doctor might also order two tests called Prothrombin time (PT) and activated partial thromboplastin time (aPTT). These tests help doctors figure out if you’re more likely to have problems with bleeding or clotting.
Another test that can be done is the urinalysis. This test checks your urine for any abnormal differences in your body’s waste materials. In this case, the test is conducted to check for blood in the urine and excessive protein (known as hematuria and proteinuria), to rule out a form of pulmonary hemosiderosis that is caused by other diseases.
Your doctor may also want to perform some antibody tests. These checks if your immune system has produced any harmful substances that can attack specific parts of your body—for instance, parts of your kidneys or lungs.
Sputum testing might be performed as well. The sputum is a mixture of saliva and mucus that you’ve coughed up. For this test, special dyes will be used to color the sample so that the lab can see any abnormal cells. Specifically, these dyes can detect red blood cells and a particular type of cell (also known as hemosiderin-laden macrophages) which suggest bleeding within your lung’s smaller airways and air sacs. They’ll also check if your sputum has any bacteria, fungi, or mycobacteria, which is a type of germ that can cause serious lung infections.
Next, they might want to do a bronchoalveolar lavage (BAL). This is a medical procedure in which a bronchoscope is passed through your mouth or nose into your lungs and fluid is squirted into a small part of the lung and then collected for examination; it may provide a more accurate picture compared to a sputum test. The collected fluid would be observed for macrophages or intact red blood cells.
A pulmonary function test may also be conducted. This type of test measures how well your lungs work by assessing lung volume, capacity, rates of flow, and gas exchange. Typically, those with this condition show a restrictive pattern, which means lung expansion is limited and hence, less air can be inhaled.
Plain film chest X-rays and computed tomography (CT) scans can also provide helpful information. These image tests can reveal if there are any changes or abnormalities in your lungs. For instance, CT scans may show a pattern that suggests the presence of a disease in your lung.
Lastly, your doctor might use scans to help detect bleeding in your lungs. However, these particular tests are not commonly used in regular clinical practice.
Treatment Options for Idiopathic Pulmonary Hemosiderosis
Currently, there’s no universally accepted treatment for certain medical conditions and further research is needed to develop better treatment strategies. The choice of treatment often depends on the healthcare provider’s observation and experience, as well as the patient’s condition and whether the situation is acute or chronic.
Several treatment options have been explored in trials, including removal of the spleen (elective splenectomy), high dose steroids that work throughout your body (systemic steroids), inhaled steroids, and drugs that limit immune system reactions (immunosuppressant drugs). Severe anemia and shock should be managed by transfusing blood to the patient if necessary. One study recommends screening for excessive iron accumulation in the body (hemosiderosis) in patients receiving multiple transfusions.
In a condition known as idiopathic pulmonary hemosiderosis (IPH), where iron builds up in the lungs, systemic steroids and immunosuppressant therapy have shown the best results when used alone or as a combination. The suggestion for acute phase IPH patients is to start them off on prednisolone, a type of steroid which reduces inflammation. It’s usually administered until chest X-rays show signs of improvement.
In acute IPH patients experiencing respiratory failure due to bleeding into tiny air sacs in the lungs (alveolar hemorrhage), they may require help for their breathing through a machine (invasive ventilation support). For these patients, high-dose systemic corticosteroids are recommended again along with immunosuppressive therapy. The corticosteroid used here could be intravenous methylprednisolone administered in high doses. Once patients are stable, they can be switched to oral steroids which are gradually reduced to a maintenance dose.
Immunosuppressive drugs like cyclophosphamide, hydroxychloroquine, and azathioprine are also believed to be beneficial in severe cases. However, we currently lack an optimal dosage and treatment duration for these drugs.
Patients can also benefit from preventive measures such as maintenance doses of the steroids prednisone or prednisolone. As per the observation, if the patient does not show any recurrence in 18 to 24 months, the doses of these steroids could be gradually reduced and eventually stopped.
What else can Idiopathic Pulmonary Hemosiderosis be?
: When people have a lung bleed (known as alveolar hemorrhage), medical professionals consider a range of possible causes. The reasons for the bleed could be:
- Infections (bacterial, viral, or fungal)
- Rheumatic diseases (like lupus, antiphospholipid antibody syndrome, Goodpasture disease, and microscopic or granulomatous polyangiitis)
- Adverse reactions to medication
- Blood clot disorders
- Blood diseases
- Cancer
If the bleeding is associated with infections, then it usually comes with severe breathing problems. These infections can include bacterial pneumonia (caused by certain bacteria like Streptococcus, Staphylococcus, or Legionella), viral pneumonia (such as influenza A), or fungal infections like Pneumocystis jirovecii.
Rheumatic diseases could also lead to alveolar hemorrhage. Doctors typically diagnose these diseases from symptoms and signs outside the lungs or blood tests, not through the initial lung bleeding presentation.
In some cases, bleeding in the lungs could be caused by certain drugs. It could be a severe reaction that leads to damage in the lungs, as seen with the medication examples of amiodarone, nitrofurantoin, and infliximab. Penicillamine, for instance, can cause two conditions that lead to lung bleeding: severe lung reaction and a drug-induced form of lupus.
What to expect with Idiopathic Pulmonary Hemosiderosis
The outlook for patients with this condition can vary greatly. Some patients may naturally get better, while others may worsen and eventually pass away. According to medical research, the course of this disease can vary widely. It can be fatal within days following a severe acute illness, or patients may survive with chronic illness for up to twenty years.
For patients diagnosed with Idiopathic Pulmonary Hemosiderosis (IPH)—a rare disease causing blood to build up in the lungs—the average survival rate is between 2.5 to 5 years after diagnosis. Deaths can happen quickly due to heavy bleeding, or they might occur slowly due to worsening lung function and the failure of the right side of the heart.
Possible Complications When Diagnosed with Idiopathic Pulmonary Hemosiderosis
The side effects and long-term implications of idiopathic pulmonary hemosiderosis (a rare lung disease where iron builds up in the lungs) can differ depending on how severe the disease is and how often it happens. Two main things that commonly happen are iron deficiency anemia (a lack of enough healthy red blood cells) and pulmonary fibrosis (a lung disease that occurs when lung tissue becomes damaged and scarred).
In the early stage, these complications range from simple things like having difficulty breathing, all the way to potentially life-threatening issues such as blockage of airways due to severe bleeding and shock. Over time, complications might appear due to worsening lung efficiency and severe difficulty in breathing, or even right heart failure. Death could also occur as a result of severe bleeding.
Common Side Effects:
- Iron deficiency anemia
- Pulmonary fibrosis
- Shortness of breath
- Potential blockage of airways due to severe bleeding and shock
- Chronic lung insufficiency/severe respiratory distress
- Right heart failure
- Potential death due to severe bleeding
Preventing Idiopathic Pulmonary Hemosiderosis
If you’ve been diagnosed with a condition known as idiopathic pulmonary hemosiderosis (IPH), which, in simple words, is a rare lung disease causing persistent bleeding into the lungs, the focus of education will be on how to prevent further bleeding episodes. If you also have celiac disease, which is a sensitivity to gluten found in certain foods, following a gluten-free diet might be enough to prevent more bleeding events.
In case a gluten-free diet doesn’t apply to you, many patients have had success through continued use of medication known as oral glucocorticoids, commonly referred to as steroids. These steroids serve a dual purpose. Firstly, they can help prevent recurring bleeding into the lungs. Secondly, research has indicated that they can delay the progression of fibrotic changes in the lung, which means they can slow down the development of abnormal fibrous tissue in the lung, leading to better lung function.
