acromegaly

What is Acromegaly?

Acromegaly is a rare hormonal disorder that occurs when the pituitary gland produces too much growth hormone (GH) in adults, after normal growth has stopped. This excess GH causes various symptoms and physical changes, affecting multiple systems throughout the body.

Symptoms of Acromegaly:

• Enlarged hands or feet
• Changes in facial features, such as a more prominent jaw and/or forehead
• Increased size of lips, nose, and/or tongue
• Excessive sweating or oily skin
• Headaches and impaired vision due to the tumor pressing on nearby brain tissues

Causes and Diagnosis:

Acromegaly is most often caused by a noncancerous (benign) tumor in the pituitary gland. The condition can be diagnosed through various tests, including blood tests to measure GH levels and imaging studies to visualize the pituitary gland.

Treatment Options:

Treatment for acromegaly typically involves surgery to remove the tumor, followed by medications and radiation therapy if necessary. In some cases, medicines may be used instead of surgery to manage symptoms.

Prevalence and Age Range:

Acromegaly is a rare condition that affects adults aged 30 to 50, although it can occur at any age. When it develops before the growth plates in the bones have fused (in childhood or adolescence), it is known as gigantism.

Complications and Mortality:

If left untreated, acromegaly can lead to increased morbidity and premature mortality. Early recognition and appropriate treatment are crucial for reducing these risks.

Sources:

• [1] Most acromegaly cases are caused by a noncancerous (benign) tumor (adenoma) of the pituitary gland.
• [2] In adults, acromegaly affects your body’s bones and tissues and causes them to grow in irregular ways.
• [3] Acromegaly is most often diagnosed in middle-aged adults, but symptoms can appear at any age.
• [4] Acromegaly happens when the pituitary gland makes too much growth hormone for a long time.
• [10] Acromegaly is a rare disorder caused by excessive growth hormone production (GH), most commonly from an adenoma of the anterior pituitary gland.
• [12] Acromegaly is a rare, chronic disease caused by excessive secretion of growth hormone (GH), usually due to a pituitary somatotroph adenoma.

Acromegaly is a rare hormonal disorder that occurs when the pituitary gland produces too much growth hormone, leading to excessive growth of various body parts. The symptoms of acromegaly can vary from person to person, but here are some common signs and symptoms:

Physical Symptoms:

• Enlarged hands or feet [1]
• Changes in face shape, including a more prominent jaw and/or forehead [2]
• Abnormally large hands and feet [3]
• Large, prominent facial features (such as the nose and lips) and an enlarged tongue [4]
• Enlargement of the bones in the jaws and face [5]

Other Symptoms:

• Skin changes – thickened, coarse, and oily skin [6]
• Body odor
• Blood in the stool
• Carpal tunnel syndrome
• Decreased muscle strength (weakness)
• Decreased peripheral vision
• Dental problems, gaps between teeth

It's essential to note that these symptoms can develop gradually over time, making it challenging to diagnose acromegaly. If you or someone you know is experiencing any of these symptoms, consult a healthcare professional for proper evaluation and treatment.

References: [1] Feb 6, 2024 — Symptoms of acromegaly include an enlarged face and hands. [2] What are the symptoms of acromegaly? · Enlarged hands or feet. · Changes in your face shape, including a more prominent jaw and/or forehead. [3] Symptoms of acromegaly · abnormally large hands and feet [4] May 14, 2021 — Symptoms of acromegaly include abnormal enlargement in bones of the hands, arms, feet, legs and head. Enlargement of the bones in the jaws and face. [5] Acromegaly Symptoms · Enlarged features of the face [6] by G Lugo · 2012 · Cited by 207 — The manifestations of acromegaly are varied, including acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory problems.

Diagnostic Tests for Acromegaly

Acromegaly, a rare hormonal disorder, requires accurate diagnosis to initiate effective treatment. The following diagnostic tests are commonly used to detect and confirm the presence of acromegaly:

• Blood Tests: Blood tests are prescribed to detect the levels of growth hormone (GH) in the body. In persons with Acromegaly, the levels of GH are elevated [4]. Additionally, blood tests may be done to help measure the levels of insulin-like growth factor 1 (IGF-1) in your blood [8].
• Imaging Tests: Imaging tests such as magnetic resonance imaging (MRI) and computed tomography (CT) scans are used to evaluate tumor presence and size. MRI is the preferred modality for evaluating tumor presence and size, while CT scans may be used if MRI is unavailable [2]. An MRI scan of the pituitary gland is also used to locate and detect the size of the tumour causing excessive GH production [6].
• Dynamic Tests: Dynamic tests such as serum IGF-1 concentration, oral glucose tolerance test, and serum IGFBP-3 are used to assess the body's response to growth hormone stimulation. These tests help confirm the diagnosis of acromegaly [3].

References

[1] Feb 6, 2024 — Your doctor may recommend an imaging test, such as magnetic resonance imaging (MRI), to help pinpoint the location and size of a tumor on your ... [2] Oct 29, 2024 — Magnetic resonance imaging (MRI) – preferred modality to evaluate tumor presence and size · Computed tomography (CT) – if MRI unavailable [3] by S Melmed · Cited by 15 — Outline · Serum IGF-1 concentration · Oral glucose tolerance test · Limitations of random serum GH measurements · Other dynamic tests · Serum IGFBP-3 ... [4] Blood tests are prescribed to detect the levels of growth hormone in the body. In persons with Acromegaly the levels of growth hormone is elevated. [5] by R Zahr · 2018 · Cited by 91 — Biochemical screening is the first step for an acromegaly diagnosis. Endocrine Society guidelines and experts' consensus recommend using age- and sex-adjusted ... [6] After acromegaly has been diagnosed by the above testing, an MRI scan of the pituitary is used to locate and detect the size of the tumour causing excessive GH ... [7] If your doctor suspects you have acromegaly, you'll need to have a blood test to measure your growth hormone levels. To make sure the blood test gives an ... [8] Blood tests for acromegaly. Tests may be done to help measure the levels of growth hormone and insulin-like growth factor 1 (IGF-1) in your blood. [9] by N Ershadinia · 2022 · Cited by 72 — Once the diagnosis of acromegaly has been confirmed on the basis of the results of endocrine testing, a pituitary magnetic resonance imaging (MRI) examination ...

Treatment Options for Acromegaly

Acromegaly, a rare hormonal disorder, can be effectively managed through various treatment options. The primary goal of drug treatment is to reduce growth hormone (GH) levels and alleviate symptoms.

Medications Used to Treat Acromegaly

There are three main classes of medications used to treat acromegaly:

• Somatostatin analogs: These drugs, such as octreotide and lanreotide, help reduce GH levels by mimicking the action of somatostatin, a natural hormone that inhibits GH release. They can be administered via injection or orally.
• Dopamine agonists: Medications like cabergoline stimulate dopamine receptors in the brain, which helps decrease GH production. Cabergoline is often used as a first-line treatment due to its effectiveness and relatively low side effect profile.
• Growth hormone receptor antagonists: These medications block the action of GH on the body's tissues, reducing its effects.

Other Treatment Options

In addition to medication, other treatments for acromegaly include:

• Surgery: Surgical removal of a tumor or lesion causing excess GH production may be an option in some cases.
• Radiotherapy: In rare instances, radiation therapy may be used to treat tumors that are resistant to other treatments.

Current Research and Development

Newer medications, such as paltusotine and CAM2029, are being developed and tested in clinical trials. These drugs have shown promise in reducing GH levels and improving symptoms in patients with acromegaly.

References

• [1] Maia B (2020) Current treatments for acromegaly. Cited by 18.
• [2] Manjila S (2010) Treatment of acromegaly: a review. Cited by 51.
• [3] Gadelha MR (2024) Emerging therapies for acromegaly. Cited by 4.
• [5] Drugs used to treat Acromegaly; Generic name: octreotide systemic; Brand names: Sandostatin LAR Depot, Sandostatin, Bynfezia Pen, Mycapssa show all; Drug class: Somatostatin analogs.
• [7] Octreotide and Lanreotide help the symptoms of acromegaly by reducing growth hormone levels into the target range of less than 1.8/2 ug/l in about half of patients.

Differential diagnosis of acromegaly involves identifying conditions that can present with similar symptoms and features to acromegaly.

Some of the key differential diagnoses for acromegaly include:

• Gigantism: This is a condition characterized by excessive growth in children, often due to excess growth hormone (GH) production.
• Pachydermoperiostosis: A rare genetic disorder that can cause thickening of the skin and bones, as well as other symptoms similar to acromegaly.
• Sotos syndrome: A genetic disorder that can cause excessive growth in children, often accompanied by advanced bone age and learning difficulties.
• Pseudoacromegaly: A condition characterized by features similar to acromegaly, but without excess GH production. This can include conditions such as pachydermoperiostosis and Sotos syndrome.

Other conditions that may be considered in the differential diagnosis of acromegaly include:

• Cancer: Certain types of cancer, such as colon, breast, and other malignancies, have been associated with an increased risk of developing acromegaly.
• Endocrine and metabolic disorders: Conditions such as insulin resistance and diabetes mellitus can also be considered in the differential diagnosis of acromegaly.
• Musculoskeletal disorders: Conditions such as vertebral deformities, osteoarthropathy, and carpal tunnel syndrome may also be considered.

It's worth noting that a correct diagnosis of acromegaly requires a comprehensive evaluation, including clinical features, laboratory tests, and imaging studies.

References:

[7] May 14, 2021 — Symptoms of the following disorders can be similar to those of acromegaly. Comparisons may be useful for a differential diagnosis: Gigantism ... [8] by EK Baykan · 2022 · Cited by 8 — In the evaluation of patients with acromegaloid appearance, PDP should be considered as a differential diagnosis. [13] Echocardiography and sleep apnea testing are used to determine the clinical impact of acromegaly. ... Differential diagnosis includes other causes of acromegaly (FIPA, MEN1, Carney complex and XLAG) as well as pachydermoperiostosis and acromegaloid features of severe insulin resistance. [15] July 14, 2017 - This case illustrates that genetic overgrowth syndromes should be considered as differential diagnoses in patients with acromegaloid features without excess GH secretion, a group of conditions also called pseudoacromegaly.