Lymphangioleiomyomatosis (LAM): symptoms, diagnosis and treatment

Lymphangioleiomyomatosis is a rare condition that damages the lungs. Asthma + Lung UK explains that it is caused by changes in the tuberous sclerosis complex (TSC) genes, which lead to the growth of abnormal cells called LAM cells. These grow through the lungs, causing holes or cysts, blocking the airways and preventing the lungs from getting oxygen to the rest of the body.

The Nottingham National Centre for LAM describes it as a rare multi-system disease that almost exclusively affects women and that can cause progressive loss of lung function, leading to breathlessness, lung collapse and lymphatic problems in the chest and abdomen.

It is called a long-term condition because it is something you will always have, and progressive because it tends to get worse over time, though the rate varies widely between people.

Asthma + Lung UK says there are two ways to get LAM. It can occur on its own, called sporadic LAM, where the cause is currently unclear; sporadic LAM is not inherited and is not passed on to children. It can also occur with tuberous sclerosis, a rare inherited condition passed down from a parent. Many people with tuberous sclerosis also get LAM, but most people with LAM do not have tuberous sclerosis.

It is thought the female hormone oestrogen encourages LAM cells to grow, but it is not a direct cause. For that reason the charity says oestrogen-containing products, including contraceptive pills and hormone replacement therapy, are thought to make LAM worse, and that pregnancy may make it worse, so anyone with LAM who is pregnant or considering pregnancy should talk to their specialist team.

Some people with LAM have no or very mild symptoms. When symptoms occur Asthma + Lung UK lists:

• Breathlessness, which may get worse the longer you have the condition and at the same time as your period.

• Feeling very tired.

• Chest pain.

• Coughing, and sometimes coughing up blood if the lungs are affected.

• Wheezing.

• Stomach bloating.

LAM affects everyone differently. Asthma + Lung UK lists complications as a collapsed lung (pneumothorax), fluid around the lungs (pleural effusion), angiomyolipomas, which are kidney tumours that are usually harmless but can bleed and cause pain, and low oxygen levels, especially when exercising.

The National Centre for LAM advises people to keep a note with them in case of emergency, because many doctors in general practice and A&E will not be familiar with the disease. It says that symptoms consistent with a pneumothorax or renal bleeding should be investigated urgently. A sudden sharp chest pain with breathlessness, or sudden severe flank or abdominal pain, should lead to an emergency assessment: call 999 or go to A&E.

Asthma + Lung UK says it may take some time to get a diagnosis because LAM is rare. It is usually suspected when lung cysts are seen on a CT scan, or in females with tuberous sclerosis. Because there are other causes of lung cysts, blood tests or a lung biopsy may also be needed, and an ultrasound or CT scan of the abdomen is advised.

In the UK the National Centre for LAM is at Nottingham University Hospitals. The centre provides diagnostic work-up of suspected LAM, ongoing respiratory care either at the centre or in partnership with local providers, genetic evaluation of tuberous sclerosis complex, evaluation and monitoring of kidney angiomyolipoma, surgical assessment of complications and pre-transplant evaluation. Referral comes through a clinician rather than as a self-referral, so ask your GP or respiratory specialist.

LAM progresses at different rates and not everyone needs treatment. Asthma + Lung UK says there is currently no cure, but a medicine called rapamycin (sirolimus) may be given if you have an active case. It is an immunosuppressant medicine, and if taken continuously it can slow down how quickly the condition progresses.

Breathlessness may be managed with inhalers and pulmonary rehabilitation, and oxygen therapy may be assessed if blood oxygen levels are low, during exercise or continuously. A lung transplant may be an option for people with very severe LAM. Large or growing kidney tumours, a collapsed lung or fluid around the lungs may need additional hospital treatment.

Asthma + Lung UK advises eating a regular healthy diet, keeping active, staying up to date with vaccinations including flu, COVID-19 and pneumonia, and stopping smoking if you smoke. It acknowledges that living with a long-term condition that gets worse over time can be difficult and encourages people to speak to a healthcare professional if they are struggling emotionally.

LAM Action is a UK patient charity, based in Nottingham, which supports people with LAM and their families, and their health care professionals. Asthma + Lung UK also runs a helpline and support groups for people with a lung condition.

LAM is managed through an NHS specialist service because of its rarity, and the National Centre for LAM works with local respiratory teams for ongoing care. A private respiratory physician can arrange CT scanning and lung function tests to investigate breathlessness or cysts, but suspected LAM would normally be referred on to the national service for confirmation and treatment decisions.