Acromegaly is a rare hormonal disorder characterized by the excessive production of growth hormone (GH) in the body. This condition causes the tissues and bones to grow abnormally, resulting in various physical and physiological changes. While acromegaly is typically diagnosed in adults between the ages of 30 and 50, it can affect individuals of any age. When it develops before the end of puberty, it is referred to as "gigantism."
Understanding Acromegaly Symptoms
The symptoms of acromegaly develop slowly over time, making it challenging to recognize the condition in its early stages. However, there are several key symptoms that individuals should be aware of. These include:
Changes in Hands and Feet: Swelling of the hands and feet is a common early sign of acromegaly. Individuals may notice a change in their ring or shoe size.
Sleep Disturbances: Fatigue, difficulty sleeping, and sleep apnea are often experienced by individuals with acromegaly.
Facial Changes: Gradual changes in facial features, such as an enlarged brow, lower jaw, and nose, or widely spaced teeth, may occur.
Numbness and Weakness: Compression of the nerves can lead to numbness and weakness in the hands, a condition known as carpal tunnel syndrome.
Abnormal Growth: In children and teenagers, acromegaly can cause excessive height and abnormal growth patterns.
As the condition progresses, other symptoms may become more noticeable, including:
- Abnormally large hands and feet
- Enlarged facial features, such as the nose, lips, and tongue
- Skin changes, such as thick, coarse, oily skin and the presence of skin tags
- Deepening of the voice due to enlarged sinuses and vocal cords
- Joint pain and stiffness
- Fatigue and weakness
- Headaches
- Blurred or reduced vision
- Loss of sex drive
- Irregular menstrual periods in women and erectile dysfunction in men
It is crucial to consult a healthcare professional if you suspect you have acromegaly. Early diagnosis and treatment are essential to prevent the progression of symptoms and reduce the risk of complications.
Risks Associated with Acromegaly
Without proper treatment, acromegaly can increase the risk of developing various health conditions, including:
- Type 2 diabetes
- High blood pressure (hypertension)
- Heart disease
- Cardiomyopathy (disease of the heart muscle)
- Arthritis
- Bowel polyps, which can potentially lead to bowel cancer if left untreated
Individuals diagnosed with acromegaly may be recommended to undergo regular colonoscopy screenings to detect and manage the risk of bowel polyps.
Causes of Acromegaly
Acromegaly occurs due to the overproduction of growth hormone by the pituitary gland, a small gland located below the brain. The primary cause of this excess hormone production is a non-cancerous tumor called an adenoma, which develops in the pituitary gland.
While most cases of acromegaly are not inherited, there are instances where it runs in families. Adenomas typically develop spontaneously as a result of genetic changes in the pituitary gland cells. These genetic changes lead to uncontrolled growth of the affected cells, resulting in the formation of tumors.
In rare cases, acromegaly can be caused by tumors located in other parts of the body, such as the lungs, pancreas, or other areas of the brain. Additionally, certain genetic conditions may also be associated with the development of acromegaly.
Diagnosing Acromegaly
Diagnosing acromegaly can be challenging due to the gradual onset of symptoms. However, there are several diagnostic methods that healthcare professionals utilize to identify this condition.
Blood Tests
To measure growth hormone levels accurately, individuals suspected of having acromegaly undergo blood tests. In some cases, a glucose tolerance test is performed, where the individual drinks a sugary solution to suppress the release of growth hormone. If growth hormone levels remain high after the test, it indicates the presence of acromegaly. Another hormone called insulin-like growth factor 1 (IGF-1) is also measured, as elevated levels can be indicative of acromegaly.
Imaging Tests
Imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, are used to visualize the pituitary gland and detect the presence of adenomas. MRI scans provide more accurate results, but CT scans can be used as an alternative if MRI is not feasible.
Treating Acromegaly
The treatment approach for acromegaly depends on the individual's symptoms and the extent of the condition. The goals of treatment include reducing growth hormone production, alleviating pressure on surrounding tissues, addressing hormone deficiencies, and improving symptoms.
Surgery
Surgical removal of the pituitary tumor is a common treatment option for acromegaly. This procedure can often lead to a complete cure. During the surgery, a small incision is made inside the nose or behind the upper lip to access the pituitary gland. Using an endoscope and surgical instruments, the tumor is removed. While surgery is usually successful, in some cases, the tumor may be too large to remove entirely, requiring additional treatments such as medication or radiotherapy.
Medication
Medication may be prescribed if growth hormone levels remain elevated after surgery or if surgery is not feasible. Several medications are available to manage acromegaly, including:
- Monthly injections of octreotide, lanreotide, or pasireotide, which slow down growth hormone release and can shrink tumors.
- Daily injections of pegvisomant, which blocks the effects of growth hormone.
- Tablets such as bromocriptine or cabergoline, which inhibit growth hormone production in a subset of individuals.
Each medication has its advantages and disadvantages, and the choice of treatment should be discussed with a healthcare professional.
Radiotherapy
Radiotherapy may be recommended if surgery is not an option or if the tumor could not be entirely removed. This treatment aims to reduce growth hormone levels over time. Two types of radiotherapy are commonly used: stereotactic radiotherapy and conventional radiotherapy. Stereotactic radiotherapy delivers a high-dose beam of radiation precisely to the adenoma, minimizing damage to surrounding healthy tissue. Conventional radiotherapy, on the other hand, uses a wider beam and is administered in smaller doses over several weeks. Radiotherapy can have side effects, such as a gradual decline in other pituitary hormone levels and potential effects on fertility.
Follow-up Care
After treatment, regular follow-up appointments with a specialist are necessary to monitor the function of the pituitary gland, ensure appropriate hormone replacement therapy, and prevent the recurrence of acromegaly.
The Role of Research and Registration
To advance the understanding and treatment of acromegaly, information about diagnosed individuals is shared with the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS). The NCARDRS helps researchers explore better ways to manage and prevent acromegaly. Individuals have the option to opt out of this registration at any time.
Conclusion
Acromegaly is a rare hormonal disorder characterized by excessive growth hormone production, leading to abnormal tissue and bone growth. Recognizing the symptoms and seeking early diagnosis and treatment are crucial for managing the condition effectively. Treatment options include surgery, medication, and radiotherapy, depending on the individual's specific circumstances. Regular follow-up care is essential to monitor the condition and prevent complications. Through ongoing research and registration initiatives, advancements in the understanding and treatment of acromegaly are being made.