LARA - LAM Australasia Research Alliance. Seeking a cure for LAM (Lymphangioleiomyomatosis)

LARA'S Objectives

  • > Education
    Promoting knowledge and awareness of LAM to practitioners and women with LAM
  • > Information
    Providing information for and about women with LAM
  • > Support
    Providing for the needs of women with LAM
  • > Diagnosis
    Facilitating diagnosis by raising awareness of LAM
  • > Research
    Fostering and funding research to discover the cause, cure and prevention of LAM
  • > Fundraising
    Raising money to support our objectives
  • > Networking
    Collaborating with countries in our region by exchanging information

Contact Us

LAM Australasia Research Alliance

4/209 Oxford Street
Bondi Junction 2022

Nevena 0419 185 491
Janet 0411 816 444

PO Box 636 Bondi Junction NSW 1355
Australia

What is LAM?

A rare and progressive lung disease, LAM, or lymphangioleiomyomatosis, usually attacks women in their childbearing years, with a variety of manifestations.


Because it is rare, many GPs and even specialists are unfamiliar with LAM and may misdiagnose symptoms as due to asthma, bronchitis, emphysema or depression.

 

Breathlessness and AMLs

The first sign of LAM is often breathlessness.  This may be accompanied by chest pain, lung collapse, or coughing up blood.  Women with LAM may be unaware of changes to their lungs, but have angiomyolipomas (AMLs).  These so-called "benign" tumours on the kidneys affect 40% of women with LAM and are asymptomatic unless they burst.  Some women develop benign tumours within their abdomen (lymphangioleiomyomas), enlarged lymph nodes, and free fluid within the abdominal cavity (chylous ascites).


Pneumothorax

Pneumothorax or lung collapse occurs when a cyst close to the surface of the lung ruptures, letting air leak into the gap between the lung and the chest wall.  


What is known about LAM?

LAM comes in many forms.  The two major types are TS/LAM and Sporadic LAM.  TS/LAM is linked with tuberous sclerosis and may be hereditary. It is more common (40 per million) and less progressive.  Sporadic LAM is not inherited.  Caused by a random gene mutation, it occurs in about 10 per million.


Disease process

In some women LAM develops rapidly.  Currently the only proven treatment is a lung transplant.

In other/older women the disease progresses more slowly, particularly after menopause.

 

·  LAM is not caused by lifestyle choices.

·  LAM is not contagious.

·  LAM develops after puberty and appears to be accelerated by the hormone oestrogen.

·  Pregnancy and hormonal medication may affect the progress of LAM.

·  Average age of diagnosis is 35 years, but most women notice symptoms long before LAM is detected.

 

Is there a cure for LAM?

Currently there is no cure, but several drugs are being investigated.  Rapamycin (Sirolimus) has shown significant promise and is currently being trialled in the USA and Japan. Doxycycline, cholesterol-lowering drugs (Statins) and oestrogen-blocking agents like Arimidex are also being studied.

Until a sure fire therapeutic drug treatment is found, lung transplantation is the ultimate remedy for LAM.  Several women in Australia are enjoying the benefits of new LAM-free lungs.


Diagnosing LAM

LAM can be difficult to diagnose. The signs and symptoms of LAM are similar to many other lung diseases like asthma, emphysema and bronchitis. Some women may feel that asthma treatments like Ventolin temporarily improve their breathing.


Medical investigations

·  chest x-ray - may appear normal, particularly in early stages of LAM.

·  high-resolution CT scan of the chest is required to detect cysts or abnormal clusters of cells in the lungs. Most women are diagnosed this way.

·  lung biopsy – due to improved accuracy of CT scans, biopsies are no longer considered essential to diagnosis. A biopsy requires a small piece of lung tissue to be removed for microscopic analysis, either during a bronchoscopy or via a keyhole incision in the chest wall, risking pneumothorax.

·  abdominal CT scan may detect AMLs, but these can exist in the absence of LAM.

·  lung function tests (spirometry) cannot be used to diagnose LAM and may be misleading as some changes are suggestive of asthma or emphysema.

·  a blood test may prove helpful if current studies prove that VEGF-D a marker in the bloodstream, is an indicator of LAM.