Lymphangioleiomyomatosis is a serious and very rare lung disease that almost exclusively affects women. Due to the non-specific symptoms, the disease is usually recognized late or misdiagnosed, so that it is not always treated correctly.
What is Lymphangioleiomyomatosis?
Lymphangioleimyomatosis is one of the rare lung diseases. The cause is a spontaneously acquired or inherited genetic defect. Over the course of the disease, smooth muscle cells proliferate in the lymphatic vessels and bronchial tubes. These destroy healthy lung tissue, which impedes vital oxygen uptake in the lungs.
Research has been intensively promoted for several years in order to improve treatment options. The course of lymphangioleiomyomatosis is usually chronic and, as the lymphangioleiomyomatosis progresses, leads to a persistent, life-threatening lack of oxygen. See AbbreviationFinder for abbreviations related to Lymphangioleiomyomatosis.
The causes of lymphangioleiomyomatosis are not yet 100 percent clear. In part, the disease appears to be due to a genetic change that leads to severe remodeling of the lungs and kidneys. This is accompanied by a gradual loss of function of these organs.
The uncontrolled growth of smooth muscle cells destroys healthy lung tissue over time, which increasingly restricts the affected person’s ability to breathe. The reason for this is that the protein tuberin is missing, which results in the excessive proliferation of smooth muscle cells. They have been observed to grow normally again when tuberin is experimentally added to the LAM cells.
Since LAM usually develops before the menopause, it is suspected that various hormones such as estrogen influence lymphangioleiomyomatosis. Estrogen seems to promote the growth of LAM cells, so that high-dose medroxyprogesterone is usually prescribed as part of therapy.
Symptoms, Ailments & Signs
The first symptoms of lymphangioleiomyomatosis, which are quite unspecific and can therefore also occur in numerous other lung diseases, include shortness of breath, especially during physical exertion, moderate chest pain, cough, sometimes with blood-containing secretion and pain in the chest.
However, there are only a few objectifiable findings. Many patients present with a pneumothorax, with symptoms often worsening during pregnancy and air travel. A chylothorax (accumulation of lymphatic fluid) is also observed.
Renal angiomyolipomas (benign hamartomatous kidney tumors) occur in up to 50 percent of those affected. These can cause bleeding, which when very extensive often manifests itself as hematuria (blood in the urine) or flank pain. Approximately 70 percent of those affected also have enlarged retroperitoneal lymph nodes.
Diagnosis & course of disease
Since lymphangioleiomyomatosis is very rare and usually starts inconspicuously, the correct diagnosis is usually made late. Up to four years often elapse between the onset of symptoms and the diagnosis. Due to the similar symptoms, the disease is often misdiagnosed as pulmonary emphysema or bronchial asthma.
Possible investigations include lung biopsy or computed tomography, although CT radiography is typical and usually allows the diagnosis to be made. The X -ray examination of the lungs can be unremarkable, especially in the early stages. About 30 percent of those affected have reticulonodular interstitial infiltrates.
In 60 percent of patients, there are also cysts, which are mostly diffusely distributed and thin-walled. They have a diameter of about 0.5 to 5 centimeters. In many sufferers, the cysts are found all over the lungs. They are surrounded by healthy lung tissue. Lymphangioleiomyomatosis is a serious disease that progresses chronically and eventually leads to severely restricted breathing.
The patients are becoming less and less physically resilient. In about 50 percent of those affected, serious symptoms such as a collapsed lung (pneumothorax) occur during the course of the disease. In some cases, the disease also causes benign kidney tumors, growths in the abdomen or enlarged lymph nodes. Unfortunately, lymphangioleiomyomatosis cannot yet be cured.
Those affected primarily suffer from severe shortness of breath as a result of lymphangioleiomyomatosis. This leads to permanent tiredness and exhaustion of the patient. The resilience of those affected is also significantly reduced by the disease, resulting in various restrictions in everyday life. It is not uncommon for patients to suffer from a cough or chest pain.
The resilience of the affected person is also reduced by the lymphangioleiomyomatosis, so that carrying out usual activities is no longer easily possible. Bloody urine or pain in the flanks can also occur. The lymph nodes are also significantly swollen in those affected and the quality of life is significantly reduced.
Treatment of lymphangioleiomyomatosis is carried out with the help of drugs. In serious cases, however, a lung transplant is necessary so that the person concerned can continue to survive. Complications cannot be predicted universally. The further course of the disease also depends heavily on the general condition of the patient. As a rule, the disease does not recur after successful treatment.
When should you go to the doctor?
Shortness of breath on exertion and pain in the chest indicate a serious illness that needs to be clarified. Women who notice the first occurrence or an increase in these symptoms should consult their family doctor. The same applies to signs of asthma or lung disease. If there is a concrete suspicion of lymphangioleiomyomatosis, the lung specialist must be consulted. The doctor can diagnose the disease by means of a lung biopsy and initiate therapy immediately. If this happens early, long-term effects can possibly still be ruled out.
Advanced lymphangioleiomyomatosis can usually only be treated symptomatically, although the symptoms can be reduced by a lung transplant. People who belong to the risk groups or already suffer from a lung disease that could develop into a serious secondary disease are best advised to speak to their family doctor. This can carry out an initial examination and, if necessary, refer the patient to a specialist in internal diseases. Despite the low risk of recurrence, the patient must have regular check-ups after completing treatment.
Treatment & Therapy
The therapy of lymphangioleiomyomatosis consists of the following pillars: The general treatment of the symptoms such as the administration of bronchospasmolytics and long -term oxygen therapy, interventional procedures such as pleurodesis (obliteration of the pleural space) and the administration of hormone preparations.
If these treatment methods are unsuccessful, there is the possibility of a lung transplant. In addition, bronchodilators are used individually, which lead to the widening of the bronchial tubes so that the shortness of breath is relieved. In order to prevent cell growth, drugs with a specific effect are used that intervene in the molecular processes of lymphangioleiomyomatosis.
Another treatment option is the administration of immunosuppressive drugs. The substance sirolimus inhibits the mTOR-mediated signaling pathway, which promotes cell growth and is overactivated in the disease due to the gene defect. The results of a study showed that the lung function improved significantly as a result.
After the end of the therapy, however, the disease progressed again, so that long-term therapy is necessary, but taking into account the numerous side effects. Therefore, treatment is recommended in the case of an aggressive course of the disease. In the case of complications of lymphangioleiomyomatosis, other procedures are used, for example, in the case of frequent lymphatic effusion or lung collapse, a pleurodesis, the gluing of the pleura gap.
If tuberous sclerosis develops, further complications are possible, which must also be treated. Lung transplantation is currently the only curative option for lymphangioleiomyomatosis. However, only a few patients are eligible for this.
They must be younger and in good general condition. The capacity of donor organs is also limited. If the transplantation is successful, it is rarely to be expected that the disease will recur.
Outlook & Forecast
The prognosis of lymphangioleiomyomatosis depends on the time of diagnosis and the possibility of treatment. The disease is often not discovered until late, so that it is already very advanced. This complicates the treatment options and leads to an unfortunate course of the disease.
The disease is often mistaken for another. This leads to not doing proper treatment that could lead to a fundamental cure of lymphangioleiomyomatosis. The lung disease is associated with numerous side effects and impairments. The patient’s resilience is severely limited and their quality of life is reduced. This leads to an increased risk of subsequent disorders. Psychological problems can arise that can trigger further disorders.
In particularly severe cases, the patient needs a donor organ. Lung transplantation presents numerous challenges. The operation is not always successful without complications. In addition, the subsequent therapy is exhausting and exhausting for the person concerned. The patients are exposed to long-term therapy, since the administration of medication is necessary afterwards. This should avoid rejection reactions and at the same time optimize the functional activity of the lungs. Nevertheless, the prognosis is also linked to the general state of health of the person concerned and the presence of other diseases. The older the patient is and the more pre-existing conditions, the less favorable the prognosis.
Prevention of lymphangioleiomyomatosis is not possible. But there are various measures to improve the patient’s quality of life. These include, for example, respiratory physiotherapeutic exercises that promote lung capacity, abstaining from nicotine and vaccination against influenza and pneumococci.
Lymphangioleiomyomatosis can usually lead to a number of different symptoms and complications, so those affected by this disease should definitely consult a doctor to prevent the symptoms from getting worse. Early diagnosis has a positive effect on the further course of this disease.
Most of those affected suffer from shortness of breath due to lymphangioleiomyomatosis and thus also from permanent tiredness and permanent exhaustion. There is severe chest pain and a cough. Most patients therefore also suffer from sleep problems if these symptoms occur at night. Sometimes a visit to a salt cave can help to clear the respiratory tract and achieve short-term relief from the symptoms.
Furthermore, lymphangioleiomyomatosis is often associated with pain in the flanks. Most of those affected show anemia and can no longer concentrate and also no longer participate properly in everyday life. The loving care and support of friends and family can have a significant positive impact on recovery. A complete healing of the lymphangioleiomyomatosis cannot always be achieved. Therefore, in some cases, the life expectancy of those affected is also reduced due to the disease.
You can do that yourself
Lymphangioleiomyomatosis can only be treated with medication or surgery. If the drugs prescribed are having the desired effect, patients should support the positive effects with gradual lifestyle adjustments.
The first thing to do is moderate exercise, which strengthens lung function and boosts the immune system. In the further course, the physical movement can be intensified. Yoga and physiotherapy are among the options. The doctor should first measure the lung capacity so that the physiotherapy can be optimally adjusted. Strict administration of the drug is essential. If the preparation is not taken or even discontinued, the lung function deteriorates further.
Left untreated, lymphangioleiomyomatosis causes severe damage to the lungs, necessitating a lung transplant. Such an operation places an enormous strain on the body, which is why rest and protection are necessary in any case. In addition, the patient should adhere to the doctor’s instructions regarding diet and physical activity. Regular health checks are important. Should complications arise, the doctor must be informed so that complications can be recognized and treated quickly. The responsible doctor can answer whether and to what extent the conservative treatment can be supported by natural remedies.