Acromegaly

Neuroendocrine disorders |
Acromegaly

Acromegaly

Istituto Gentili is committed
to the treatment of acromegaly, a rare,
chronic hormonal disorder with a higher
prevalence among women.

Characteristics

go-top

Acromegaly is a rare, chronic hormonal disorder with a late onset (between 20 and 50 years of age). The condition results in the abnormal growth of bone and other body tissues and can affect various areas, including hands, feet, and the face.

What causes acromegaly?

Acromegaly is caused by the excessive production of growth hormone (GH) by the pituitary gland. This overproduction is often due to the presence of an adenoma, a benign pituitary gland tumour.

Benign pituitary adenoma (95% of cases) that causes an excessive production of growth hormone (GH).
Tumours outside the pituitary gland (rare cases), for example in the lungs, pancreas, or adrenal glands, which induce GH production or stimulate the pituitary gland to produce GH.

This excess of GH, in turn, results in an overproduction of insulin-like growth factor 1 (IGF-1) hormone, which produces a series of symptoms and complications.

How many people have acromegaly in Italy?

In Italy, acromegaly is considered a rare disease, with an estimated prevalence of about 7 cases per 100,000 inhabitants. It has a higher prevalence among women, with 8.6 cases per 100,000 inhabitants, compared to 5.1 cases per 100,000 inhabitants among men.

Symptoms

The symptoms of acromegaly are the result of the excessive production of GH and IGF-1. These symptoms may occur gradually over the years and vary from Patient to Patient. Some of the most common symptoms are:

abnormal growth of hands and feet,
organ enlargement,
facial changes (e.g., prominent upper jaw, enlarged nose and tongue, increase in the gaps between teeth),
sleep apnoea and snoring,
headache and sight disorders,
joint pain and stiffness,
carpal tunnel syndrome,
chronic weakness,
increased sweating,
unexplained weight gain,
sexual dysfunctions,
vocal cord thickening.

The comorbidities most commonly associated with acromegaly include:

Diagnosis

Acromegaly is often diagnosed some time after the onset of symptoms (a delay that can vary from between 4 and 10 years).

This delay in diagnosis is associated with higher morbidity and mortality, emphasizing the importance of early diagnosis and timely treatment.

So, how is acromegaly diagnosed?

The diagnostic investigations include:

Treatment

The treatment of acromegaly aims to:

reduce the excess of GH,
reduce the excess of IGF-1,
control symptoms and complications.

The therapeutic options include:

transsphenoidal surgery to remove the pituitary adenoma,
pharmacological treatment,
radiotherapy.

Concerning pharmacological treatment, there are currently various therapeutic options:

somatostatin analogues: drugs that bind with the somatostatin receptors (SSTR-2 and SSTR-5) on the pituitary adenoma and inhibit the release of GH upstream and of IGF-1 downstream. This reduces symptoms and shrinks the tumour,

dopamine agonists,

GH receptor antagonists: drugs that bind with the GH receptors and reduce the synthesis of IGF-1 as a result,

combined therapy: in some cases, a combination of drugs is required to obtain optimal control over GH and IGF-1 levels.

In conclusion, acromegaly is a complex disorder that requires multidisciplinary management and personalised treatment to ensure the well-being and long-term health of Patients with this disorder.

Early diagnosis, regular monitoring and compliance with the treatment plan are fundamental for obtaining optimum results.

REFERENCES

Fleseriu M et al. Acromegaly: pathogenesis, diagnosis, and management. Lancet Diabetes Endocrinol. 2022;10(11):804-826. doi:10.1016/ S2213-8587(22)00244-3.
Gatto F et al. Epidemiology of acromegaly in Italy: analysis from a large longitudinal primary care database. Endocrine. 2018;61(3):533-541. doi:10.1007/s12020-018-1630-4.
Giustina A et al. Correction: consensus on criteria for acromegaly diagnosis and remission. Pituitary. 2024;27(1):88. doi:10.1007/s11102-023-01373-w.
Melmed S et al. A Consensus Statement on acromegaly therapeutic outcomes. Nat Rev Endocrinol. 2018;14(9):552-561. doi:10.1038/s41574-018-0058-5.