What is Acromegaly?

Acromegaly is a rare metabolic disorder that causes excessive growth of limbs. Acromegaly means something like “enlargement of the outermost parts of the body.” Affected individuals have very large ears, nose, hands and feet. The cause is a brain tumor that leads to 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 drug and surgical options to mitigate the course of the disease.

What are symptoms of acromegaly?

Typical signs of acromegaly are that affected individuals have thickened, wrinkled skin and coarsened facial features with large noses and ears. The eye bulges are prominent, and the hands and feet (“acra”) are greatly enlarged (“-mega”). The development of symptoms is gradual over years. Classically, sufferers notice that shoes, rings and hats no longer fit. The internal organs – especially the heart and spleen – also take on a dangerous size. The tongue also grows and the teeth give way, which can lead to “clotty” 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 may include high blood pressure (arterial hypertension) and headaches. If the brain tumor is already so large that it presses on the visual pathway, visual disturbances and visual field loss occur. Tissue growth on the hands can constrict the median nerve in the forearm, resulting in what is known as “carpal tunnel syndrome,” with pain in the first three fingers at night and sensory disturbances.

Metabolic disturbances are typical in acromegaly

Other typical symptoms include increased hair growth (hypertrichosis) and sweating (hyperhidrosis). The external genitalia may also be enlarged. Some patients develop a sugar metabolism disorder (diabetes mellitus). In female patients, the menstrual cycle is absent (amenorrhea). Male patients, in turn, experience decreased sex drive and impotence problems.

How does acromegaly develop?

The cause of acromegaly in 95 percent of cases is a pituitary adenoma, which is a benign brain tumor. The pituitary gland, also called the pituitary gland, is a gland located in the diencephalon and produces, among other things, the growth hormone somatotropin (“GH = growth hormone”). This hormone ensures length growth in childhood and plays an important role in fat, carbohydrate and protein metabolism. If a tumor forms in the pituitary gland, hormone secretion initially increases and there is continued growth of the hands, feet, facial area and internal organs even in adulthood. If adolescents are affected in whom the growth in length has not yet been completed, the result is so-called gigantism, a subtype of acromegaly with a body height of more than two meters. However, patients between the ages of 40 and 50 are most often affected.

Rare causes of acromegaly

In rare cases, the cause of acromegaly is a malignant pituitary tumor or a tumor elsewhere in the brain that produces growth hormone in large amounts. In even rarer cases, the condition occurs as part of hereditary disorders, for example, lipodystrophy type Berardinelli.

How does a doctor diagnose acromegaly?

On average, five to ten years pass from the onset of the disease until diagnosis, as the signs develop insidiously. Often, the environment does not even notice the slow change in the body of the affected person, only in direct comparison with old photos is the difference recognizable. Only when further symptoms appear do patients consult a doctor. The responsible specialist for diagnosis and treatment of acromegaly is an endocrinologist, i.e. a metabolism expert.

Blood tests and imaging as part of the diagnostic process.

If acromegaly is suspected, the doctor first examines the blood. Production of the disease-causing growth hormone depends on the time of day, which is why several blood samples must be taken in one day. Another examination tests the ability to regulate growth hormone secretion by administering sugar (oral glucose tolerance test, oGTT).In a healthy patient, there should be a drop in growth hormone in the blood after eating pure sugar (glucose); in diseased individuals, the hormone level remains high. If the blood tests confirm the suspicion of acromegaly, imaging must be performed to visualize the tumor in the brain. To do this, either a magnetic resonance imaging (MRI) scan or a computed tomography (CT) scan will be ordered.

How is acromegaly treated?

The cause of acromegaly is the pituitary tumor. This can be surgically removed in some cases if it is not yet too large. The surgery can usually be done through the nose; this procedure is called “transsphenoidal adenomectomy.” Another option is to irradiate the tumor to shrink it and reduce its activity. As a complication of removing the tumor, there may be a complete loss of function of the pituitary gland, so the hormones it produces must be replaced with medication.

Alternative therapies for acromegaly

If the first two methods are unsuccessful or cannot even be used, drug therapy remains. Here, hormones are administered to counteract the growth hormone somatotropin and thus curb the progression of symptoms. Drugs used for this purpose are (exemplary active ingredient in parentheses):

Untreated, life expectancy is shortened by about ten years. Causes of death are the impairment of the heart, blood vessels and brain by the disease. In addition, acromegaly patients suffer more often from breast and colon cancer.