LAM lung disorder rare, caused by overgrowth of smooth muscle

Question:

A woman in my town wears oxygen and has something called “LAM.” What is LAM, and when should one get evaluated for it?

Lymphangioleiomyomatosis is a rare disorder (a few people per million will have it) that can affect many organs, but most commonly the lung. It is found mostly in women.

It is neoplastic (meaning “new growth”), which makes it a relative of cancer. It can be associated with another condition, tuberous sclerosis. The underlying problem in LAM is the unregulated growth of smooth muscle cells, especially in the lungs, kidneys and lymph vessels.

The lion’s share of LAM diagnoses are made in people in their 30s and 40s. The most common symptom is shortness of breath during exercise, and it may be misdiagnosed as

Answer: — A.L.

asthma or COPD. Cysts may be seen on films, and these can burst, causing a pneumothorax, which is an emergency. The diagnosis traditionally has been made with CT scans and biopsy, but a new blood test, VEGF-D, may reduce the need for biopsy.

Women with a history of pneumothorax should be considered for this disease, as should any woman with a diagnosis of COPD or asthma and cysts in the lungs, especially if they do not have other risk factors (such as smoking or alpha-1 antitrypsin deficiency, an underrecognized cause of chronic lung and liver problems).

LAM tends to progress slowly. Although there is no cure, LAM often can be treated with medicine, like sirolimus. Oxygen is helpful for people with low levels of it, especially with exercise.

Q:

I’m hoping you can answer a question regarding fibromuscular dysplasia. A family member has this condition in her carotid artery. Is it possible that the FMD is responsible for personality changes that we have noticed over the past three years? If the artery is repaired, will the changes revert?

— F.D. A:

Fibromuscular dysplasia is a disease of the wall of the arteries in the body. It most commonly affects the arteries to the kidneys, but the carotid arteries to the brain also may be affected. It is much more common in women, and most often is diagnosed in a person’s 50s. The diagnosis can be made via imaging studies, such as CT or MRI, and sometimes requires an angiogram to confirm.

FMD in the carotid arteries can have symptoms that are similar to other types of blockages. A transient ischemic attack is a temporary loss of neurological function, especially sudden weakness, inability to speak or loss of sight. People with FMD can have strokes, and multiple small strokes sometimes lead to personality changes. However, if your family member is over 65 or so, I would be concerned about other types of dementia syndromes, as these are more likely than FMD to cause personality changes. Personality changes may not revert even with treatment, unfortunately.

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