What is Acromegaly disorder and its symptoms?

Posted by Ajinkya on January 27th, 2021

Acromegaly, also known as "Hereditary Short Facial Syndrome", is a rare condition in which the patient has enlarged facial features or hands. Acromegaly is a chronic condition characterized by a wide face and big hands. The upper jaw may enlarge, the eyelids may thicken, and the cheeks may also thicken. Acromegaly is usually caused by the increase of the pituitary hormone, ACTH. Acromegaly is usually a secondary disorder resulting from an adrenal failure that is also known as primary adrenal insufficiency.

Primary adrenal insufficiency (PAI) is an inherited disorder that occurs as a result of genetic abnormalities affecting the pituitary glands. PAI can also be a result of infections. Acromegalian patients are usually diagnosed when they present with enlarged facial features (big hands, narrow faces), a wide face with a high forehead, neck, and ears (or a combination of these facial features). Although it is possible to have a facial profile that is neither small nor broad, patients usually develop an enlarged facial appearance and a wide face.

One of the most common causes of the development of Acromegaly in infants is genetic abnormalities. Genetics has been implicated as a potential contributor to Acromegaly, specifically with the occurrence of an X chromosome and a deletion of a gene on the Y chromosome. The genetic contribution has been determined by the presence of a rare recessive gene which results in an autosomal dominant disease; however, this finding is based on a study of only two people. It is not known whether there are other genes that may also play a role in the formation of this condition in individuals who inherit a defective X chromosome or a deletion of the gene.

Because acromegaly is often caused by increased levels of the hormone cortisol, doctors often examine facial development and the presence of acne before diagnosing PAI. In some patients, facial features do not necessarily point to PAI because other factors might be present that are not related to the hormonal status. Patients are usually seen in a doctor's office. However, because Acromegalia can be difficult to diagnose, most doctors prefer to conduct physical exams and perform laboratory testing, such as complete blood count and thyroid function tests, to establish the exact cause of the disease.

Acromegalian patients are usually treated with medicines for primary adrenal insufficiency, which is often referred to as corticosteroids. Corticosteroids are used in conjunction with surgery to reduce inflammation, shrink the adrenal glands, and prevent the glands from secreting more cortisone. Surgery can also be performed to correct any deformities of the face, such as an underdeveloped chin or an overly long nose. If surgery is done for acromegaly, it will also address the cause of the disease.

Unfortunately, treatment for primary adrenal insufficiency is limited because of the many different types of PAI. Most patients who have primary adrenal insufficiency require hormone replacement therapy (HRT), which must be performed after surgery.

In most patients with primary adrenal insufficiency, surgery will relieve acromegaly symptoms, although it can help alleviate the pain associated with the disease. Although some people with primary adrenal insufficiency do not respond to HRT, it can help those who do. HRT can also help control symptoms in many patients, especially those with PAI. There are a number of drugs available that can treat Acromegaline.