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Acromegaly

Disease Details

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Description: Acromegaly is a hormonal disorder that results from the overproduction of growth hormone, leading to the enlargement of bones and tissues, most notably in the hands, feet, and face.
Type: Acromegaly is a hormonal disorder typically caused by the overproduction of growth hormone (GH) due to a benign tumor on the pituitary gland called an adenoma. It is not usually inherited and does not follow a specific pattern of genetic transmission. However, in rare cases, it can be associated with genetic conditions such as Multiple Endocrine Neoplasia type 1 (MEN1) or Carney complex, which do follow autosomal dominant inheritance patterns.
Signs And Symptoms: Features that may result from a high level of GH or expanding tumor include:
Headaches – often severe and prolonged
Soft tissue swelling visibly resulting in enlargement of the hands, feet, nose, lips, and ears, and a general thickening of the skin
Soft tissue swelling of internal organs, notably the heart with the attendant weakening of its muscularity, and the kidneys, also the vocal cords resulting in a characteristic thick, deep voice and slowing of speech
Generalized expansion of the skull at the fontanelle
Pronounced brow protrusion, often with ocular distension (frontal bossing)
Pronounced lower jaw protrusion (prognathism) with attendant macroglossia (enlargement of the tongue) and teeth spacing
Hypertrichosis, hyperpigmentation and hyperhidrosis may occur in these people.: 499
Skin tags
Carpal tunnel syndrome
Prognosis: Life expectancy of people with acromegaly is dependent on how early the disease is detected. Life expectancy after the successful treatment of early disease is equal to that of the general population. Acromegaly can often go on for years before diagnosis, resulting in poorer outcome, and it is suggested that the better the growth hormone is controlled, the better the outcome. Upon successful surgical treatment, headaches and visual symptoms tend to resolve. One exception is sleep apnea, which is present in around 70% of cases but does not tend to resolve with successful treatment of growth hormone level. While hypertension is a complication of 40% of cases, it typically responds well to regular regimens of blood pressure medication. Diabetes that occurs with acromegaly is treated with the typical medications, but successful lowering of growth hormone levels often alleviates symptoms of diabetes. Hypogonadism without gonad destruction is reversible with treatment. Acromegaly is associated with a slightly elevated risk of cancer.
Onset: Acromegaly typically has an onset in adulthood, most commonly in middle-aged individuals. The condition results from excessive growth hormone production, often due to a pituitary adenoma. Symptoms often develop slowly and may go unnoticed for years.
Prevalence: Acromegaly is a rare disorder, with an estimated prevalence of 40 to 60 cases per million people.
Epidemiology: Acromegaly is a rare hormonal disorder resulting from excessive growth hormone (GH) production, typically due to a benign pituitary adenoma. The estimated prevalence of acromegaly is approximately 40 to 60 cases per million people, with an incidence rate of around 3 to 4 new cases per million people per year. It predominantly affects adults, usually diagnosed between the ages of 40 and 50, with no significant gender predilection.
Intractability: Acromegaly is generally considered intractable without treatment, meaning it will not resolve on its own. However, with appropriate medical interventions such as surgery, medication, and radiation therapy, it can be managed effectively. Early diagnosis and treatment are crucial for better outcomes.
Disease Severity: Acromegaly is a potentially serious condition if left untreated. It is characterized by excessive growth hormone production, often due to a benign pituitary tumor. Complications can include cardiovascular disease, diabetes, arthritis, and increased mortality risk. Early diagnosis and effective treatment are critical to managing symptoms and improving outcomes.
Healthcare Professionals: Disease Ontology ID - DOID:2449
Pathophysiology: Acromegaly is a condition characterized by the excessive production of growth hormone (GH), usually due to a benign pituitary adenoma. The excessive GH stimulates the liver to produce increased levels of insulin-like growth factor 1 (IGF-1), leading to abnormal growth of tissues and organs. This results in the characteristic features of acromegaly, including enlarged hands and feet, facial changes, and various systemic complications.
Carrier Status: Acromegaly is not a genetic condition that is carried or inherited in a typical carrier fashion. It is usually caused by a noncancerous tumor of the pituitary gland, known as a pituitary adenoma, which leads to excess production of growth hormone. Carrier status does not apply to this condition.
Mechanism: Acromegaly is primarily caused by excessive secretion of growth hormone (GH), usually due to a benign tumor of the pituitary gland known as a pituitary adenoma.

**Mechanism:**
- The pituitary adenoma secretes excess GH, which stimulates the liver to produce more insulin-like growth factor 1 (IGF-1).
- Elevated levels of IGF-1 lead to abnormal growth of bones and tissues, resulting in the characteristic features of acromegaly such as enlarged hands, feet, and facial features.

**Molecular Mechanisms:**
- **Growth Hormone-Releasing Hormone (GHRH):** GHRH from the hypothalamus normally regulates the release of GH from the pituitary. In acromegaly, feedback inhibition by IGF-1 is ineffective, leading to persistent GH secretion.
- **GH Receptor (GHR) Signaling:** GH binds to GH receptors on the liver and other tissues, triggering the JAK2-STAT pathway. This activation leads to transcription of IGF-1 and other growth-promoting genes.
- **Genetic Mutations:** Some pituitary adenomas may arise due to mutations in the GNAS gene, which encodes the Gs alpha subunit of the G protein involved in cAMP signaling pathways. This can lead to constitutive activation of adenylate cyclase and increased GH secretion.

Overall, the disease consists of both an endocrine and growth dysregulation component due to persistent GH and IGF-1 elevations.
Treatment: The goals of treatment are to reduce GH production to normal levels thereby reversing or ameliorating the signs and symptoms of acromegaly, to relieve the pressure that the growing pituitary tumor exerts on the surrounding brain areas, and to preserve normal pituitary function. Currently, treatment options include surgical removal of the tumor, drug therapy, and radiation therapy of the pituitary.
Compassionate Use Treatment: For acromegaly, compassionate use treatments, off-label, or experimental treatments can sometimes be considered, especially in cases where conventional therapies are ineffective or not tolerated. Here are a few possibilities:

1. **Pasireotide**: An FDA-approved somatostatin analog for acromegaly, occasionally used off-label for specific cases with particular needs.

2. **Dopamine Agonists**: Although primarily used for prolactinomas, drugs such as cabergoline and bromocriptine may be considered off-label for some acromegaly patients, especially those with mixed growth hormone and prolactin-secreting tumors.

3. **Pegvisomant**: Not experimental but part of standard treatment options, it's a GH receptor antagonist often used when other treatments haven’t achieved the desired results.

4. **Combination Therapy**: Using a combination of somatostatin analogs, dopamine agonists, and GH receptor antagonists may be considered off-label and tailored to individual patient needs.

5. **Experimental Drugs**: Clinical trials are ongoing for new therapeutic agents aimed at inhibiting growth hormone or its effects on tissues. Participation in these trials may offer access to new, yet-to-be-approved treatments.

Always consider consulting a specialist in endocrinology to explore the most current and suitable options for individual cases.
Lifestyle Recommendations: Lifestyle recommendations for managing acromegaly include:

1. **Regular Monitoring and Medical Care**: Keep up with regular check-ups to monitor the disease's progression and adjust treatment as needed.
2. **Healthy Diet**: Maintain a well-balanced diet rich in vegetables, fruits, whole grains, and lean proteins to support overall health and manage weight.
3. **Exercise**: Engage in regular, moderate physical activity tailored to your abilities and medical advice, which can help maintain mobility and cardiovascular health.
4. **Stress Management**: Practice stress-reducing techniques like meditation, yoga, or deep-breathing exercises to improve emotional well-being.
5. **Sleep Hygiene**: Ensure you get adequate sleep by maintaining a regular sleep schedule and creating a restful sleeping environment.
6. **Avoid Smoking and Limit Alcohol**: Smoking cessation and moderating alcohol intake can help improve overall health and reduce the risk of complications.
7. **Support Groups**: Join support groups or counseling to connect with others facing similar challenges, which can provide emotional support and practical advice.

Always consult with your healthcare provider to tailor these recommendations to your specific condition and needs.
Medication: Acromegaly is typically treated with medications that aim to reduce the levels of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). The main types of medications used include:

1. **Somatostatin analogs:** These drugs, such as octreotide and lanreotide, inhibit the release of growth hormone.
2. **Growth hormone receptor antagonists:** Pegvisomant is used to block the action of growth hormone on its receptors.
3. **Dopamine agonists:** Medications like cabergoline can help reduce growth hormone levels in some patients.

Treatment plans are often individualized based on the patient's specific condition and response to therapy.
Repurposable Drugs: Repurposable drugs for acromegaly include:

1. **Cabergoline**: Originally used to treat hyperprolactinemia (high levels of prolactin), it can be effective in some patients with acromegaly, particularly those with smaller tumors or those with mild excess of growth hormone (GH) and insulin-like growth factor 1 (IGF-1).

2. **Octreotide**: This somatostatin analog, primarily used for the treatment of severe diarrhea in carcinoid syndrome, can suppress GH secretion and is often used in acromegaly management.

3. **Pegvisomant**: Initially developed for other medical conditions, this GH receptor antagonist is used in acromegaly to reduce IGF-1 levels, effectively controlling the disease in cases resistant to other therapies.

These drugs offer alternative therapeutic options and can be particularly useful in cases where conventional treatments, such as surgery or radiotherapy, are not feasible or have not been fully effective.
Metabolites: Acromegaly is primarily associated with elevated levels of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), which are key metabolites involved in the disease. Elevated GH stimulates the liver and other tissues to produce more IGF-1, leading to the characteristic overgrowth of bones and tissues. Other metabolites that may be evaluated in the diagnosis and management of acromegaly include glucose (because of potential insulin resistance and diabetes) and prolactin, if a mixed growth hormone/prolactin-secreting pituitary adenoma is suspected.
Nutraceuticals: For acromegaly, there is limited evidence to support the efficacy of nutraceuticals (nutrients, dietary supplements, or herbal products) in managing the condition. Acromegaly is typically treated through medical, surgical, or radiotherapeutic interventions aimed at reducing growth hormone (GH) and insulin-like growth factor 1 (IGF-1) levels. Nutraceuticals may have some role in supporting overall health but are not a substitute for standard medical treatments. A healthcare provider should be consulted for personalized treatment and advice.
Peptides: Acromegaly is primarily caused by the excessive secretion of growth hormone (GH) from the pituitary gland, usually due to a benign tumor called a pituitary adenoma. This excessive GH leads to the overproduction of insulin-like growth factor 1 (IGF-1) in the liver and other tissues. Peptides such as somatostatin analogs (e.g., octreotide, lanreotide) and GH receptor antagonists (e.g., pegvisomant) are used in the treatment to inhibit excessive GH production or block its effects.

"Nan" presumably means not applicable or not available, and if it refers to a specific entity or term related to acromegaly, there doesn't appear to be a direct relevance or established connection in medical literature.