Welcome to LAM TurkeyLAM Turkey is the Turkey charity for patients and families with Lymphangioleiomyomatosis (also known as LAM) and doctors caring for patients with LAM.
LAM is a rare disorder which affects women only, and is generally diagnosed in women of childbearing age. The condition mainly affects the lungs, where it causes excessive growth of smooth muscle tissue which progressively erodes lung function.
LAM Turkey's primary aim is to provide information, support and encouragement for LAM patients and their families - through this website and LamTurkiye yahoogroup.
Introduction
Lymphangioleiomyomatosis or LAM is a rare lung disease that only occurs in women. It affects just over one person in a million and we are aware of 75 women in the United Kingdom who have LAM. It appears to occur world-wide and is equally rare in other countries.
The average age of onset of LAM in patients in the United Kingdom is 34 years. It nearly always starts before the menopause and when, very rarely, it has been diagnosed after the menopause, it has usually been in women who were taking hormone replacement therapy (HRT).
What is LAM? LAM mainly affects the lungs, where it causes an overgrowth of a certain type of cell(smooth muscle cell). This overgrowth occurs around the airways (breathing tubes) and also around the blood vessels and the lymph vessels (lymph vessels normally drain excess fluid from the lungs). The cells lead to cysts developing in the lung and these may be seen on a chest x-ray and are shown very clearly on a CT scan of the lung.
The main effects of LAM are in the lung but quite a few patients also have a tumour in the kidneys and sometimes more than one; they are not malignant but can cause bleeding. Lymph nodes may be enlarged in other parts of the body but they don't usually cause problems.
The name lymphangioleiomyomatosis reflects the different components of the disease. Lymph and angio refer to the lymph and blood vessels that are involved and leiomyo refers to the smooth muscle. LAM is sometimes called sporadic LAM to distinguish it from LAM that occurs in patients who have tuberous sclerosis (see LAM and Tuberous Sclerosis.)
What happens when you have LAM?
LAM affects different patients in different ways. The main problem usually is breathlessness, particularly when patients exert themselves. This is due to the effect of the cells on the airways and also to the cysts which take up space in the lungs. Some people are breathless due to the development of fluid around the lung (known as a pleural effusion). The fluid is usually milky (chylous) and occurs when the lymph vessels are blocked. Occasionally some lymph is coughed up as sticky whitish phlegm. Similarly because LAM can affect the blood vessels in the lung some patients cough up blood from time to time.
For many patients with LAM the first sign of the disorder is when they develop a collapsed lung, known as a pneumothorax. This occurs when one of the cysts bursts and air leaks into the space around the lung. A pneumothorax usually causes sudden onset of breathlessness, often with a sharp pain, and it requires treatment in hospital (see Is there any treatment for LAM). If the pneumothorax recurs a small operation may be needed. The operation will prevent a further pneumothorax though some patients continue to be aware of occasional gurgling in their chest after the operation
What is the cause of LAM?
The cause of sporadic LAM is at present unknown. We know that it is not inherited and it is not passed on to children. We also know that one of two proteins (called tuberin and hamartin) are abnormal in LAM tissue. This is due to a mutation in the genes responsible for these proteins. The proteins act as a brake on the growth of smooth muscle cells in the lung and when they are abnormal there is excessive growth of LAM cells. Why this should happen is not clear, however, but stopping the growth of these cells is the subject of research.
Effect of Hormone Changes on LAM
LAM usually progresses over time although the rate at which it progresses varies considerably between individuals. Since LAM generally occurs before the menopause it is thought to be influenced by female hormones such as oestrogen and progesterone.
Oestrogens may accelerate the disease and progesterone may slow it down. The effect of events such as pregnancy that cause hormones to change and the effect of hormones in "the pill" and in hormone replacement therapy (HRT) are not well established but he best evidence to date suggests the following:
Pregnancy Some patients with LAM have been pregnant without any worsening of their condition. In other patients, however, the disease has deteriorated and complications such as pneumothorax and a pleural effusion appear to occur more often during pregnancy.
Hormone replacement therapy (HRT) contains oestrogens and it may therefore make LAM worse.
Menopause The rate at which LAM progresses may slow down after the menopause, although this is not always the case.
The contraceptive pill Most contraceptive pills contain oestrogen and progesterone and although the evidence that the contraceptive pill makes LAM worse is limited, a progesterone only contraceptive pill may be safer. Alternative means of contraception which do not use hormones could also be used.
Fertility treatment If oestrogen makes LAM worse it is likely that fertility treatment will do the same.
Patients who wish to consider becoming pregnant or who are taking or wish to take the contraceptive pill, hormone replacement treatment or fertility treatment should discuss this with their physician before making changes
Air Travel?
Air travel may cause problems for patients with LAM and there are three reasons for this, all due to the fall in air pressure in the cabin as the plane gains height.
First, if you happen to have a small pneumothorax when you fly this will become larger and breathlessness is likely to get worse. Second, because LAM is associated with cysts in the lung, there will be an increased risk of a cyst expanding and causing a pneumothorax during air flight but the risk appears to be small. These two problems should not occur if your lung has been stuck down (pleurodesis). The third reason is that someone who is breathless on modest exertion for whatever reason is likely to be more breathless in an aeroplane because oxygen levels are lower.In a survey in the US one in 20 patients with LAM had had a problem when flying; we don't know exactly what the problems were but most were not serious.
So how big is the risk? The risk appears to be fairly small as long as you have reasonable lung function and you have no symptoms prior to flying to suggest that you may have developed a small pneumothorax (symptoms would be an increase in breathlessness or chest pain). If you have symptoms before flying you may need a chest X-ray to confirm that you don't have a pneumothorax. The risks otherwise depend on individual factors including your lung function and whether your lung has been stuck down. If in doubt discuss it with your doctor.
Some patients with LAM have found it difficult to obtain insurance for holidays abroad whilst others have not. If you are having difficulty LAM Action may be able to help. See Travel Insurance in our Useful Information Section for details
How is LAM Diagnosed?
Many symptoms of LAM are similar to those of more common lung diseases such as asthma and for this reason patients may have symptoms for a long period before LAM is diagnosed correctly. Symptoms, X-rays and breathing (lung function) tests may suggest LAM but the diagnosis is usually confirmed by a CT scan (a detailed X-ray scan) of the lungs and sometimes with a lung biopsy. In a patient with LAM the CT scan usually shows typical cysts throughout the lungs. A lung biopsy may be performed in some cases where the doctor feels more information is needed to ensure that the diagnosis is correct. This is usually carried out through a fairly small incision in the chest under a general anesthetic. In LAM the biopsy will show the typical cysts and smooth muscle cells. The kidney tumours are also seen best on a CT scan although they can also be seen with ultrasound.
How does LAM Progress?
As the LAM cells enlarge there is a fall in lung function but the rate at which this occurs varies markedly between patients. A few patients still have moderately preserved lung function after 20 years whilst others are less fortunate and deteriorate quite rapidly. Most patients are between these extremes. Looking at change in lung function over a period of time gives a good indication of the rate at which the disease is progressing.
Is there any treatment for LAM?
Unfortunately there is no cure for LAM as yet. Treatment may be given to deal with symptoms or complications (supportive treatment) or it may be given in the hope that it will reduce the rate at which LAM progresses.
Supportive treatment for breathlessness; The treatment for breathlessness depends on the cause of the breathlessness. For example, if there is a pneumothorax or a pleural effusion treating these should help the breathlessness. Some patients benefit from the B-agonist inhalers used for asthma such as Ventolin and Bricanyl.
Fluid on the chest (pleural effusion); If this is large it may be helpful to remove the fluid though in the long term it is better to prevent it accumulating. This may be helped by a low fat diet or by progesterone treatment (see below).If it continues to build up it may need a small operation to stick the outside of the lung to the inside of the ribcage. This is known as a pleurodesis and is carried out with a general anaesthetic.
Pneumothorax; This is usually treated initially by sucking the air out of the space round the lung with a needle or tube inserted under a local anaesthetic. If it recurs it is may also be treated by a pleurodesis so that it can't collapse again.
Oxygen; When breathlessness becomes more troublesome breathing additional oxygen may provide some relief. Oxygen can be given from oxygen cylinders or from a machine called a concentrator which extracts oxygen from air. Having a concentrator is worthwhile if you need oxygen for several hours a day and means you don't need to keep replacing oxygen cylinders which may only last for 6 hours. There are no hard and fast rules as to when oxygen should be started but patients who have to stop after 100 to 200 yards are likely to benefit.
Lung transplant; Lung transplantation is a possibility for patients with severe LAM. More than one hundred patients with LAM have had a lung transplant and the outcome appears to be similar to patients who have had a transplant for other conditions. A lung transplant is a major undertaking, however, and the results for lung transplantation are not yet as good as those for a kidney transplant. It is only considered therefore when LAM has become severe.
General Smoking; It is clearly not sensible to smoke if you have LAM since the damage from smoking will only add to that of LAM. There is also some evidence that smoking may make LAM worse.
'Flu jab; As with all patients with a significant lung condition it is sensible to have a 'flu jab each winter. It may also be worth having a pneumococcal vaccination to reduce the risk of pneumonia. This should be discussed with your doctor.
Keeping fit; There is good evidence from other types of lung diseases that there are benefits from keeping fit. When LAM becomes more severe a pulmonary rehabilitation course may provide an extra stimulus but the main thing is to walk as much as you can.
Treatment to try and stop LAM progressing
Various treatments have been tried for LAM, particularly hormone treatments. Because LAM is rare it has not been possible to study different treatments in the way that they would normally be studied in other diseases i.e by comparing treatment with a dummy treatment (placebo) in a controlled trial. The treatments outlined below appear to have been helpful to some patients although it isn't clear whether they suit all patients and they can have some side effects. The following treatments have been tried:
Progesterone; This is the most commonnest treatment used in the United Kingdom. It is usually given by an injection every 3 or 4 weeks. It may help some patients but even this is not certain.There is also a tablet form but whether this is effective is uncertain. There are often no side effects from progesterone but nausea, a bloated feeling, headache and swollen ankles can occur.
Removing the ovaries (oopherectomy); Removing the ovaries reduces the levels of the female hormone oestrogen. It has been tried more in the United States than in the United Kingdom. How helpful it is is uncertainTamoxifen. Tamoxifen blocks the effects of oestrogen and is sometimes used by patients with breast cancer. Experience with this is even more limited.
Hormones to reduce the release of oestrogen. These drugs are usually given by injection or by nasal spray and experience is, again, limited.
New experimental approaches to treating LAM are being considered and one drug (rapamycin) is already undergoing clinical trials. New treatments have to be assessed carefully as the drugs are not without risk. Other possible treatments are under investigation but not ready for clinical trials yet. The LAMPost and website will keep you up to date on developments.
LamTurkiye@gmail.com
