What is acromegaly?

What is acromegaly?

Acromegaly is a rare metabolic disorder that causes excessive limb growth. Acromegaly roughly means “enlargement of the outermost parts of the body”. Those affected have huge ears, noses, hands, and feet. The cause is a brain tumour that leads to the overproduction of a growth hormone. Acromegaly can be inherited through gene mutations. In rare cases, it also occurs as part of hereditary syndromes. Acromegaly is not curable. However, there are medicinal and surgical options to alleviate the course of the disease.

What are the symptoms of acromegaly?

Typical signs of acromegaly are that those affected have thickened, wrinkled skin and coarse facial features with large noses and ears. The eye bulges protrude, and the hands and feet (“Akran”) are greatly enlarged (“-mega”).

The development of symptoms has been insidious over the years. Classically, those affected notice that shoes, rings and hats no longer fit.

The internal organs – especially the heart and spleen – also assume a dangerous size. The tongue also grows, and teeth diverge, which can lead to “lumpy” speech (like having a hot potato in your mouth) and nighttime breathing problems (sleep apnea syndrome).

 

Arterial hypertension and visual disturbances as signs

Other signs of acromegaly can include high blood pressure (arterial hypertension) and headaches. If the brain tumour is already so large that it presses on the visual pathway, visual disturbances and visual field restrictions occur.

The tissue growth on the hands can constrict the median nerve on the forearm, which results in the so-called “carpal tunnel syndrome”, with nighttime pain in the first three fingers and sensory disturbances.

Metabolic disorders are typical of acromegaly.

Other typical symptoms are increased hair growth (hypertrichosis) and sweating ( hyperhidrosis ). The external genitalia can also be enlarged. Some patients develop a glucose metabolism disorder ( diabetes mellitus).

In female patients, the menstrual cycle stops ( amenorrhea ). Male patients, on the other hand, experience reduced sex drive and erectile dysfunction.

 

How does acromegaly develop?

In 95 per cent of cases, the cause of acromegaly is a pituitary adenoma, i.e. a benign brain tumour. The pituitary gland, also known as the pituitary gland, is located in the diencephalon and produces, among other things, the growth hormone somatotropin (“GH = growth hormone”). This hormone is responsible for growth in childhood and plays a vital role in fat, carbohydrate and protein metabolism.

If a tumour develops in the pituitary gland, the release of hormones increases, and there is continued growth of hands, feet, facial parts and internal organs even in adulthood.

If young people whose growth in length is not yet complete are affected, the result is what is known as gigantism, a subtype of acromegaly with a height of over two meters. However, patients between 40 and 50 are most commonly affected.

Rare causes of acromegaly

In rare cases, the cause of acromegaly is a malignant pituitary tumour or a tumour elsewhere in the brain that produces high growth hormone levels.

In rarer cases, the disease occurs as part of hereditary diseases, for example, in lipodystrophy of the Berardinelli type.

How does the doctor diagnose acromegaly?

It takes an average of five to ten years from the onset of the disease to diagnosis as the signs develop slowly. The people around you often don’t even notice the slow change in the body of the person concerned; the difference can only be seen in a direct comparison with old photos. Patients seek medical attention only when other symptoms appear. 

The doctor responsible for diagnosing and treating acromegaly is an endocrinologist, i.e., a metabolism expert.

 

Blood tests and imaging as part of diagnostics

If acromegaly is suspected, the doctor first examines the blood. The disease-causing growth hormone production depends on the time of day, so multiple blood samples must be taken daily.

Another study tests the ability to regulate growth hormone release by administering sugar (oral glucose tolerance test, OGTT ). In a healthy patient, after consuming pure sugar (glucose), there should be a drop in growth hormone in the blood; in sick people, the hormone level remains high.

If the blood tests confirm the suspicion of acromegaly, imaging must be done to show the tumour in the brain. For this purpose, magnetic resonance imaging (MRI) or computed tomography (CT) is performed.

How is acromegaly treated?

The cause of acromegaly is the pituitary tumour. In some cases, this can be surgically removed if it is not too large. The surgery is usually done through the nose and is called a “transsphenoidal adenomectomy.”

Another option is to irradiate the tumour to shrink it and reduce its activity.

As a complication of removing the tumour, the pituitary gland may stop functioning altogether, requiring medication to replace the hormones it produces.

Alternative therapies for acromegaly

If the first two methods are unsuccessful or cannot be used at all, drug therapy remains. Hormones that counteract the growth hormone somatotropin are administered and are intended to curb the progression of the symptoms.

Drugs that are used for this purpose are (for example, active ingredient in brackets):

  • Dopamine supplements (bromocriptine)
  • Somatostatinpräparate (Octreotid)
  • GH receptor antagonist (pegvisomant)

If left untreated, life expectancy is reduced by about ten years. The cause of death is the impairment of the heart, blood vessels and brain by the disease. In addition, acromegaly patients are more likely to suffer from breast and colon cancer.

 

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