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Acromegaly

Name of disease:

Acromegaly

ICD-10 diagnosis code:

E22.0

Causes:

Most cases of Acromegaly are sporadic, which means they occur in people with no history of the disorder in their family. Majority of cases are due to tumor in pituitary gland, which leads to excessive secretion of growth hormone. Very rarely, acromegaly can run in families.

Mode of inheritance:

Acromegaly can be sporadic or are inherited from parents in family in rare conditions.

Prevalence:

1-9/100,000

Diagnosis:

The diagnosis of Achondroplasia based on clinical findings is sometimes difficult because the symptoms may develop slowly over several years. Blood test can be done to determine the level of IGF-1 to confirm acromegaly. MRI or CT scan can be performed to reveal if there is tumor in pituitary gland to look for the cause of acromegaly.

Age of onset:

Children

Common signs and symptoms:

Enlarged feet and hands Enlarged facial features Coarse, oily and thickened skin Excessive sweating Fatigue and muscle weakness. Small outgrowths of skin tissues. Enlarged vocal cords leading to husky voice. Severe snoring due to obstruction in the upper airway. Impaired vision Headaches. Enlarged tongues. Pain and limited joint mobility. Irregular menstrual cycle in women. Erectile dysfunction in men Enlarged organs such as heart.

Available treatments (medicinal and non-medicinal):

If patients are confirmed with a pituitary tumor, surgical resection of tumor or radiation therapy is recommended. If patients are not suitable for surgery or their situation do not improve much after surgery, medication will be given.

Disease management tips:

Since pituitary gland is a major hormone-secreting gland, surgery or radiation therapy may cause long-term deficiency of other pituitary hormones such as growth hormone deficiency. However, currently, there is not enough evidence supporting the use of growth hormone therapy. After treatment, regular monitoring should be conducted including blood test and MRI 12 weeks after the surgery to identify if there is residual disease. Some patients may even have headache and symptoms due to the compression of tumors, or even blindness if untreated. Therefore, timely diagnosis and treatment is of utmost importance. Uncontrolled acromegaly may also give rise to insulin resistance and diabetes.

References:

https://rarediseases.org/rare-diseases/acromegaly/

Other useful websites:

More about the disease: https://www.healthline.com/health/acromegaly Patient groups: Acromegaly Community https://www.acromegalycommunity.org Pituitary Network Associationhttps://pituitary.org