Charlotte Smith health: Countryfile stars shocking diagnosis with rare disease

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BBC Radio 4 and Countryfile star Charlotte Smith was diagnosed with Lymphangioleiomyomatosis (LAM) back in 2016. According to the LAM Foundation, LAM is a rare lung disease that usually strikes women during the prime of their lives.

Charlotte said in the interview with The Mirror: “I saw a specialist at London’s University College Hospital and an MRI scan identified multiple cystic air spaces in both lungs.

“They realised it was LAM.”

The star added that she initially sought treatment due to “feeling breathless” following her brother’s wedding in 2010.

Lymphangioleiomyomatosis (LAM)

The British Lung Foundation (BLF) said the condition occurs “almost exclusively in women”.

The cause behind the rare disease is unknown, but the condition is a result of an abnormal mutation of the LAM cells.

This mutation causes the abnormal growth of LAM cells, leading to holes or cysts in the lungs.

Current research suggests that the female hormone oestrogen encourages LAM cells to grow.

The growing mass also blocks the airways and prevents the lung from transporting oxygen around the body.

Sometimes, LAM cells cause issues in the lymphatics and kidneys.

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Kidney tumours, called angiomyolipomas, may also occur due to the disease.

A LAM diagnosis can take time, as it’s usually picked up following a CT scan on the lungs.

While there is no cure, medication can be taken to help slow down the progression of the disease.

For example, people with a more active disease may be prescribed rapamycin.

What are the symptoms?

Dyspnea (Shortness of Breath) – This is the feeling of being breathless or difficulty breathing without assistance. Shortness of breath is an extremely common symptom of LAM.

Pleurisy (Chest Pain) – Pleurisy is often caused by inflammation or irritation of the chest wall and the lining of the lungs. Chest pain can be caused by many things including infections, pneumothorax or scar tissue from previous procedures. Many women with LAM experience chest pain from time to time.

Chronic cough

Fatigue

Pneumothorax (lung collapse) – A pneumothorax is defined as a leakage of air from the lung into the chest cavity. The air outside the lung creates negative air pressure in that space which causes the lung to deflate.

Angiomyolipoma (benign kidney tumor) – Angiomyolipomas are benign tumors often found in the kidneys of LAM patients. They are made up of three kinds of tissue: “angio” refers to blood vessels, “myo” refers to smooth muscle cells and “lipo” refers to fat tissue. These tumours can vary by patient and depending on the tissue distribution can be more prone to bleeding or other complications.

Pleural Effusion (Chylothorax) – Pleural effusion is a leakage and accumulation of fluid (known as chyle) into the chest cavity. About 30 percent of women with LAM experience problems with chyle leakage during the course of their disease.

“When I heard I probably had this very rare, potentially serious disease with an unpronounceable name I went into shock,” Charlotte added.

“The doctor was honest and told me all the stats, including it being 10 years, on average, between diagnosis and needing a lung transplant – or even death.

“He went on to say that this was the worst-case scenario and probably wouldn’t be me. But all I could focus on was the thought that I could die in 10 years.”
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