Living with rare lung disease LYMPHANGIOLEIOMYOMATOSIS (LAM): The Patient Perspective. Gill Hollis, Edinburgh January 2010
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1 Living with rare lung disease LYMPHANGIOLEIOMYOMATOSIS (LAM): The Patient Perspective Gill Hollis, Edinburgh January 2010
2 LAM Basics Disease of the lungs and lymphatics Affects women Causes progressive cystic destruction of lungs Often fatal Page 1
3 LAM - What is LAM? Overgrowth of immature smooth muscle cells (LAM cells) Mainly affects lungs; cell overgrowth around: Airways - cysts & impaired respiratory function Blood vessels and lymph vessels - fluid collection But can be problems elsewhere Kidney tumours angiomyolipoma Enlarged lymph nodes Abdominal and pelvic masses Page 1
4 LAM - Incidence & Causes Very rare in UK, c.150 known cases (= 5 in every 1 million women) Occurs either in isolation (sporadic LAM), or in association with Tuberous Sclerosis Complex (TSC) Causes not well understood one gene defect identified (TSC2) hormones (oestrogen?) thought to play part Page 3
5 LAM - Symptoms Include: Progressive breathlessness Recurrent pneumothorax Chylous or pleural effusions Coughing blood Chest pain Persistent cough May also include: Kidney tumours Cystic masses / obstructions in abdominal & pelvic lymphatics Page 4
6 My Experience Early Symptoms 1987 Aged 22, fit & healthy Himalaya trek, then 3 x pneumothorax Partial pleurectomy, St Barts 1992 Aged 27, still fit and healthy Single symptom - cough blood when swimming CT scan, bronchoscopy, lung biopsy Diagnosis of LAM confirmed Page 5
7 My Experience 1992 Diagnosis Very little known Few resources with info Likely fatal within 10 years No treatment, no cure Devastating diagnosis Page 6
8 My Experience Treatment, Monitoring Avoid oestrogen (the Pill, pregnancy) No other treatment Monitoring: Every 6 months Pulmonary Function Tests Every 18 months CT scan Page 7
9 My Experience Next 10 Years Slow progression of disease: More pneumothoraces, leading to surgery, with input from Freeman TX team: 1994 left side pleurodesis 1995 right side pleurodesis More cysts Floored by any colds, chest infections Decline in respiratory function, exercise tolerance Page 8
10 My Experience Physical Impact Gave up sports 1 by 1 Increasing limitations on travel (air, tube, etc) Progressive difficulty in: Walking outdoors Moving around indoors Until on oxygen 24/7 and everything was difficult (sleeping, eating, dressing, etc.) Big implications for family & work Page 9
11 My Experience Psychological Impact Vulnerable to Anxiety Panic attacks Chronic hyperventilation Depression Little guidance / support Affected not just me, family too Page 10
12 My Experience What Helped Physical exercise Breathing exercises / good breathing techniques Seeking all help available: Oxygen Blue badge Support group LAM Action Page 11
13 My Experience Lessons I Learned Be aware of vulnerability to depression, panic attacks, hyperventilation Learn good breathing techniques / exercises Take physical exercise, within safe limits - pulmonary rehab particularly useful Seek advice on suitability of O2 at early stage Get TX team advice on any lung surgery decisions Get all the help available! Page 12
14 My Experience - Transplant Received single left lung February 2004, Freeman Hospital Now living normal life AND skiing, kayaking, rollerblading, etc. Outcome for TX in LAM patients similar to other diseases prior lung surgery or kidney tumours complicates but does not preclude Page 13
15 LAM Recent Developments Support groups established in many countries, providing info & support Prognosis variable disease progression Research ongoing in many countries Tissue donation recent programme Drug trials rapamycin & doxycycline ERS LAM Guidelines published January 2010 Page 14
16 LAM Further Info LAM Action, Nottingham Tel: Gill Hollis (chair); Dr Simon Johnson (medical) ERS Guidelines Eur Respir J 2010; 35: European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis LAM Treatment Alliance (US) LAM Foundation (US) Page 15
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