What is it?
Lymphangioleiomyomatosis, better known as LAM, is a disease included in the set of Rare Diseases and usually affects women of childbearing age.
Although its main affectation is that of the lungs, it is not exclusive to these organs. Within respiratory diseases, it is included in Interstitial Pulmonary Diseases (for more information see the section dedicated to these pathologies on our website).
It is a disease in which an abnormal proliferation of smooth muscle cells occurs in a certain organ and they end up occupying it. The proliferation of these cells occurs uncontrollably and can end up blocking and damaging blood vessels, lymphatics and lung tissue, making it difficult for oxygen to be transported from the air into the bloodstream and, therefore, distributed to the rest of the body.
This uncontrolled growth of smooth muscle tissue in the lung results in the formation of air cysts or bullae in the lung and benign tumors in other locations.
Since 2012, LAM has begun to be considered a destructive, low-grade neoplasm.
Cause
It is a pathology of unknown cause and it is difficult to establish due to its low incidence.
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There are two types of presentation:
- Sporadic (S-LAM).
- Tuberous sclerosis complex-linked (TSC-LAM).
Prevalence
Its prevalence and incidence is unknown. It is estimated that there is 1 case per million population for S-LAM and that 40% of women with tuberous sclerosis could have LAM lesions.
In Spain the estimates are 1-2 cases per million inhabitants.
Although cases of LAM have been described in men affected by TSC, S-LAM occurs exclusively in women.
Symptom
The most common respiratory symptoms are:
- Dyspnea: It will begin associated with effort and will be triggered at rest.
- Cough: More often dry.
- Cysts can cause:
- Pneumothorax: In LAM it is spontaneous because one of the cysts ruptures, giving rise to an accumulation of air from the lungs in the space between the lungs and the ribs (pleural space). This leak ends up totally or partially collapsing the lung.
The most common symptoms of pneumothoraces are:
- Dyspnoea
- Chest pain
- persistent dry cough
The most common complication in these patients is spontaneous pneumothoraces.
- Chylothorax: Due to an injury or rupture of the lymphatic vessels of the thorax, an accumulation of chyle (fluid formed by lymph and lipids) occurs in the pleural cavity. It is treated by draining this fluid. Your symptoms with:
- Chest pain
- Cough with expectoration
- Fever
- Dyspnoea
- Edema
- Hemoptysis: When a blood vessel in the lungs or respiratory tract is broken or injured, blood can be expelled when coughing.
- Hemothorax: Rupture of the thoracic blood vessels can cause a pool of blood in the pleural cavity, resulting in symptoms similar to chylothorax. It is treated by draining the blood.
Extrapulmonary involvement is usually the appearance of tumors called angiomyolipomas and lymphangioleiomyomas in organs such as the kidneys, ovaries, uterus...
Diagnosis
Due to its infrequency and the fact that the first symptoms are common to those of any other respiratory disease, it is a difficult pathology to diagnose.
The tests to be carried out are:
- Chest X-ray: Nonspecific. It allows the diagnosis of pneumothorax and pleural effusion.
- High Resolution Computerized Axial Tomography (TACAR): It is the most useful imaging test for the diagnosis of LAM.
- Lung biopsy.
- Abdominal CT: To assess whether or not there are neoplasms in that area.
- Pulmonary function tests: To assess the affectation that LAM has produced on lung function.
Once the diagnosis has been established and to assess and diagnose possible complications, it is advisable to perform the following tests:
- Thoracentesis: To evaluate the accumulated fluid in the pleural space.
- Gasometry: To assess if the oxygen supply to the blood is sufficient.
- 6-minute walk test with oximetry: It is used to determine the variations of the oxygen level with exercise.
Treatment
From lung involvement
To date there is no treatment that cures this pathology, but its evolution can be stopped.
The only pharmacological treatment with some proven efficacy in the treatment of LAM is sirolimus, a drug from the immunosuppressant family. This drug stabilizes lung function and is associated with a decrease in symptoms and an improvement in quality of life, but it does not present benefits in all patients. In some cases the size of the abdominal tumors has also decreased.
Treatment of associated respiratory complications
Depending on the existing complication, the treatment will be of choice, it will be one or the other:
- Pneumothorax: Puncture and drainage in the most serious cases, in mild cases rest and analgesia. If the pneumothoraces are repeated, a pleurodesis will be performed, which consists of sticking the two pleural layers together to prevent new leaks.
- Chylothorax: puncture and drainage.
- Respiratory failure: In the most severe cases, a lung transplant will be performed.
Although there is no inhaled pharmacological treatment for LAM, it is possible that this type of medication is prescribed to help improve respiratory symptoms.
Of abdominal involvement
If the abdominal tumors do not cause discomfort or complications, they will only be checked periodically, but if complications arise, they will be removed.
It is necessary to have an important control of the bone density of the patients, since it is frequently altered.
Basic tips
The basic tips for any patient with LAM are:
- Do not smoke or allow smoking in your presence
- Control diet, eat 5 or 6 small daily meals.
- Exercise frequently.
- Rest properly.
- Attend all medical visits scheduled by the doctor who will be informed of any symptoms or questions that arise.
- Take medications as prescribed.
- Get vaccinated against flu and pneumonia.
- Be positive
More Information
Spanish Society of Pneumology and Thoracic Surgery: SEPAR. "Guide for patients with lymphangioleiomyomatosis" http://www.separ.es/biblioteca-1/bibliotecaparatodos
American Thoracic Society http://patients.thoracic.org/information-series/es/resources/13linfangio.pdf
Associations
AELAM- Spanish Association of Lymphangioleiomyomatosis
Telephone: 986 129 340/ 693 639 362
Contact: aelam@aelam.org
Website: www.aelam.org
European LAM Federation
Web: www. europelamfederation.org
Contact: info@europelamfederation.org
The LAM Foundation
Website: www.thelamfoundation.org
Contact: info@thelamfoundation.org
LAM Treatment Alliance
Website: lamtreatmentmentalliance.org
Contact: info@treatmentmentalliance.org
Spanish Federation of Rare Diseases (FEDER)
Website: www.rare-diseases.org
Contact: feder@rare-diseases.org
