A paper discussing these priorities was published in ERJ Open Research:

Read the paper

• 1 Improve methods of identifying patients with active disease

  Due to the rarity of LAM, there is limited awareness among healthcare professionals of the disease and its symptoms, which can lead to both misdiagnosis and a delay in diagnosis.
  

• 2 Availability of drugs for LAM in all EU countries

  There is a wide range of drugs prescribed for the treatment of LAM. However, access to drugs, such as sirolimus, varies across European Union (EU) countries, so widening availability is important.

• 3 All patients can access a specialist LAM centre

  The ability to access a specialist LAM centre for treatment and support is important for patients.

  LAM specialists in Europe have called for specialist LAM centres covering large geographical areas and close collaboration between them, whereby patients can be seen at least once a year by a doctor with expertise in LAM, and at a centre specialising in LAM diagnosis and treatment.

• 4 More lung transplants available with shorter waiting times

  For women with advanced pulmonary LAM, lung transplantation is now widely accepted as a therapeutic option.

  However, as donated lungs are a scarce resource this option remains limited and it is not always an option in every country.

• 5 Improve non-invasive diagnosis

  A study in 2012 evaluated serum biomarkers as diagnostic tools. Serum vascular endothelial growth factor-D (VEGF-D) was one of the biomarkers examined. Ensuring awareness of these biomarkers can reduce the need for surgical biopsy and thereby reduce the need for invasive procedures.

• 6 Patients can access treatments such as low-dose sirolimus

  There is now evidence that supports the use of sirolimus (also called rapamycin) due to a study in the USA (the MILES clinical trial) that demonstrated beneficial effects in women with LAM.

• 7 Improve care in non-specialist hospitals/services

  In parts of Europe where specialist LAM centres are not located, it is important that patients with LAM receive high quality healthcare.

• 8 Opportunity for patients to participate in clinical trials

  Women with LAM would like improved opportunities to participate in LAM clinical trials.

  There are a number of national LAM registries and biobanks and the development of a European LAM registry to support research in larger clinical trials would be beneficial.

• 9 Improve diagnostic biomarkers for faster diagnosis

  Improving diagnostic biomarkers (or indicators) of the disease was identified as very important. It is crucial that patients are diagnosed as quickly as possible so that optimal treatment can be planned.

• 10 Development of a European-wide organ donor service

  Eurotransplant is currently responsible for the allocation of donor organs in eight member states and expansion of such a European-wide organ donor service for patients could be beneficial.

Women with LAM told us that as LAM is such a rare condition, more awareness of its symptoms by local doctors would help with getting a diagnosis and the best treatment. This quick guide is to share with doctors.

When to suspect LAM

• A woman, typically young or middle-aged, presents with pneumothorax, chylothorax or progressive shortness of breath without clear explanation.
• A woman has been diagnosed with COPD despite having no history of smoking or asthma, and without exacerbation or remission.
• Lung cysts consistent with LAM are discovered on CT scans done for other reasons.
• Incidental discovery on CT or US of an angiomyolipoma, a fatty kidney tumour.

What to do if you think your patient may have LAM

• Order a high resolution thoracic CT.
• Order a lung function test including spirometry, lung volumes and diffusing capacity.
• Other diagnostic measures can be considered e.g. serum measurement of VEGF-D.

What to do if LAM is confirmed

• Reassure your patient. She is likely to be shocked at being diagnosed with an incurable disease but many women lead long and full lives following diagnosis.
• Recommend alternatives to medications containing oestrogen, including contraceptive pills and vaginal lubricants.
• Encourage your patient to take care of herself physically and psychologically.
• Refer your patient to a respiratory specialist with expertise in LAM and /or a LAM specialist centre. See our map of LAM centres/specialists.
• Tell your patient that there are support organisations providing information and support. See our map of support organisations.
  

This summary information is based on information produced by LAM Australia Research Alliance and is used with their permission.