Using life history to explore the experience of women living with a rare chronic illness: Lymphangioleiomyomatosis
in De Chesnay, M.
Lazor et al., "European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis
," European Respiratory Journal, vol.
--a wolf in sheep's clothing," The Journal of Clinical Investigation, vol.
Johkoh et al., "Differentiation between Birt-Hogg-Dube syndrome and lymphangioleiomyomatosis
: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females," European Journal of Radiology, vol.
In fact, TSC provides a good model into the roles of autophagy in human disease but also indicates the possibility of using autophagy inhibition as a therapeutic target, namely, in combination with mTORC1 inhibitors, as was also suggested for lymphangioleiomyomatosis
(LAM) , a condition also associated with mTOR activation and TSC2 gene mutations.
The indications for LTX were cystic fibrosis in two patients, chronic obstructive lung disease (COPD) in 24 patients, lung fibrosis in 31 patients, lymphangioleiomyomatosis
of the lung in one patient, and pulmonary hypertension in one patient.
The lung volume appears to be preserved in chest radiograph, and this feature helps to differentiate PLCH from other (excluding lymphangioleiomyomatosis
) interstitial lung diseases that are almost always associated with reduced lung volume.
There are other lymphatic abnormalities such as lymphangioleiomyomatosis
in which 10%-40% of patients develop pleural effusions that are almost always chylous.
As outlined in Table 1, due to the association of TSC with pulmonary lymphangioleiomyomatosis
(LAM), a baseline high-resolution CT scan of the lungs in with pulmonary function tests (PFT) are recommended in symptomatic males and all female patients older than 18 years.
Risk factors associated with various types of pneumothorax Primary spontaneous pneumothorax (PSP) Smoking Family history of PSP Birt-Hogg-Dube syndrome Familial cancer syndrome (FLCN) Marfan syndrome Homocystinuria Secondary spontaneous pneumothorax (SSP) Chronic obstructive pulmonary disease Cystic fibrosis Lung malignancy Necrotizing pneumonia Catamenial (*) Rare: Ankylosing spondylitis Asthma Histiocytosis X Interstitial lung disease Lymphangioleiomyomatosis
Metastatic sarcoma Rheumatoid arthritis Sarcoidosis Iatrogenic / Traumatic Chest wall trauma Open or minimally invasive procedures to the chest wall or abdomen Infection Presence of gas forming organisms (*) In association with menses due to intra-thoracic endometriosis
Countryfile and Farming Today presenter Charlotte Smith, 51, suffers from Lymphangioleiomyomatosis
(LAM), an extremely rare lung disease which normally strikes women during the prime of their lives.