Acromegaly: A Rare, Serious, Insidious, Chronic, but Treatable Disease - Essay Sample

Introduction

The elucidation of pituitary pathophysiology has long been a major challenge for physicians [1]. Because of the lack of knowledge of the endocrine system, acromegaly and gigantism, the most astonishing pituitary disorders, were generally considered to be an intrinsic bone disease. Many scholars have observed, analyzed, investigated and recorded cases, describing them and giving their opinions. Though far from providing a correct pathogenic interpretation of the disease, they paved the way for future observations and discoveries.

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The first complete medical description of the clinical picture of acromegaly and gigantism was made by the French neurologist Pierre Marie in 1886, differentiating it from other diseases such as Virchow's Hypothyroidism, Paget's disease or Leontiasis Ossea [2].

Nowadays, it is not disputed that Acromegaly and Gigantism are two diseases caused by the same cause, according to the moment of life in which they manifest: if it is in childhood or adolescence, before ending the growth of the long bones, Gigantism occurs. If it occurs in adulthood, when the growth plates of the long bones are already closed, the growth happens in the extremities of the body, like hands, feet and chin causing Acromegaly [5]. This article reviews theoretical studies and describes the pathophysiology and appropriate treatment of the disease.

Methodology

For the work, a bibliographic survey was carried out in the databases CINAHL, PubMed and some pharmacology books. The research used the general descriptors: "endocrine system, acromegaly, gigantism, difficult diagnosis and pituitary".

Acromegaly

The term acromegaly is a neologism consisting of two Greek words: Akron (end) + megalo (large), referring to a chronic, severe, rare and insidious disease that affects adults (in the range between 30 and 50 years), both the sexes, when the growth hormone (GH) is produced in excess and, consequently, produces another hormone [6]. When the growth hormone is released into the blood, the liver is stimulated to produce Insulin Growth Factor (IGF-1), similar to type 1 insulin that makes bones, muscles, and cartilage to grow in the body. This process is crucial for the growth and repair of human body tissues. However, as has been said, when this occurs in adulthood, the growth cartilages are already closed and end up deforming the bones rather than lengthening them [7].

The incidence of acromegaly is approximately 3 cases in one million people per year [8]. The pituitary or pituitary is a small pea-sized gland located at the base of the brain that divides into the anterior (adenohypophysis) and posterior (neurohypophysis) lobes, the anterior lobe constituting about 80% of the brain [3]. In about 98% of cases of acromegaly, the exaggerated production of GH is associated with the presence of benign tumors in the pituitary gland, originating from the somatotropic cells of the anterior lobe that, due to an intrinsic defect, results in the activation of a cell growth factor or the inactivation of an inhibitory factor, leading to the appearance of an adenoma. The remainder (2%) may be related to genetic mutations and unknown causes [2].

Because it is a slow and silent developmental disease, it is common for acromegaly to be diagnosed many years after the first manifestation of symptoms that can occur at any age, but only to be noticed much later. Also, the symptoms are also not very specific, which can cause the condition not to be diagnosed in the early years. The most notable features of acromegaly usually involve acral overgrowths, such as the face, hands and feet, and the diagnosis is suspected due to changes in appearance facial features consisting of an increased jaw (prognathism), nose and lips. Alterations of the oral cavity including malocclusion, enlargement between the spaces of the teeth and macroglossia, may lead to the recognition of the disorder by the dentist [9].

There is also an increase in synovial tissue and cartilage, which can lead to atrophy in the knees, ankles, hip, vertebrae and other joints, as well as joint pain caused by osteoporosis, due to excess GH; increased bone density, thickening of the skin that becomes oily and prone to acne; heavy sweating and bad body odor; respiratory changes (sleep apnea and thick voice due to increased paranasal and vocal chords); such as hypertension, hypertrophy of the ventricles and myocardiopathy, leading to heart failure; gastrointestinal disorders; metabolic-endocrine abnormalities such as fatigue, abnormal menstruation, lack of libido and sexual impotence, because in women, macroadenomas can cause a decrease in the secretion of other pituitary hormones, more commonly gonadotrophin; in addition to hyperphosphatemia in about 70% of the patients; neurological dysfunctions (headaches, carpal tunnel syndrome) and ophthalmic disorders [4]. Some of these symptoms are the results of compression of the tumor in nearby tissues such as headaches, and vision problems may arise if the tumor compresses the surrounding nerves.

Without treatment, patients with acromegaly may develop into a severe form of the disease, in which complications arise, and mortality rates are high. Presence of diabetes in 10 to 15% of cases, hypertension, arthritis (due to an excessive bone and cartilage growth), cardiovascular disease, and intestinal polyps capable of turning into bowel cancer, if not treated, are aggravating factors in the painting [7].

The diagnosis is primarily clinical. Confirmation is made through blood tests, which indicate an increase of GH and IGF-I. However, the normality of this does not rule out the possibility of the disease because it is a hormone that is secreted in a pulsatile form. Imaging tests such as MRI, X-rays, and CT scans of the skull, hands, and feet should also be done.

Acromegaly treatment aims to reduce excess growth hormone to normal levels, relieve the pressure the tumor is exerting on surrounding structures, treat any hormonal deficiencies, and ameliorate the symptoms of acromegaly [10].

Pharmacological therapy involves the prescription of substances as first therapy, before surgery or as complementary therapy in cases of being impossible to perform surgery or failure of the same. Clinical treatment is usually done with dopaminergic agonists (cabergoline and bromocriptine), GH receptor antagonist (pegvisomant, GH biosynthetic analogue that prevents the binding of the hormone to its receptor), and somatostatin analogues. The application of octreotide intramuscularly has been the most prescribed form in the treatment of the disease.

Surgical Treatment of Pituitary Tumors is usually successful as long as the tumor is not very large. If hormone levels do not return to normal after surgery, it is necessary to maintain complementary treatment with medications because irreversible damage to the pituitary tissue may require lifelong hormone replacement

Radiation therapy is indicated only when tumors cannot be removed surgically, or when surgery and clinical treatment do not show the desired results. If untreated, acromegaly can cause serious illness and even death, because symptoms will worsen and the risk of cardiovascular disease, hypertension, and diabetes increases with the course of the disease. Since the exact cause of acromegaly is not yet known, its appearance cannot be avoided. What can be done is early diagnosis and treatment, in addition to maintaining a healthy life to avoid complications. The treatments we have today are effective in controlling the disease, and the different therapeutic options allow it to be controlled. It has been shown that control of the disease reduces the presence of complications.

An early diagnosis translates to early treatment and control of the disease [5]. Therefore, it is recommended to learn and know the possible complications and how to act in front of them. To monitor the possible cardiac complications, it is recommended to do the cardiological tests indicated by the doctor and monitor blood pressure. To reduce the risk of colon cancer, it is advisable to do a colonoscopy and, depending on the result, repeat it periodically. For metabolic complications, make healthy life and take into account the basic rules of proper nutrition.

Conclusion

Acromegaly is a rare disease, but it occurs with increased morbidity and mortality. Thus, it is essential that the diagnosis be early because there are several therapeutic options and most people with the disease can be treated successfully provided they never stop the treatment without talking to the doctor and remember that even after treatment will require regular and specialized follow-up for the rest of their lives.

Therefore, it is recommended that you seek medical attention immediately if you notice physical changes in yourself or another person, such as exaggerated growth of height, hands and feet, or enlargement of the chest, nose, genitals, and lips.

References

[1] S. Melmed (2016) "Pituitary medicine from discovery to patient-focused outcomes." The Journal of Clinical Endocrinology & Metabolism,101(31), 769-777

[2] Pascual, J. M., Mongardi, L., Prieto, R., Castro-Dufourny, I., Rosdolsky, M., Strauss, S., & Mazzarello, P. (2017). Giovanni Verga (1879-1923), author of a pioneering treatise on pituitary surgery: the foundations of this new field in Europe in the early 1900s. Neurosurgical review, 40(4), 559-575.

[3] Papadimitriou, E., & Alexandraki, K. I. (2018). The Era of Personalized Treatment in Acromegaly. EC Neurology, 10, 947-953. Retrieved from https://www.ecronicon.com/ecne/pdf/ECNE-10-00427.pdf

[4] Vilar, L., Vilar, C. F., Lyra, R., Lyra, R., & Naves, L. A. (2017). Acromegaly: clinical features at diagnosis. Pituitary, 20(1), 22-32. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/27812777

[5] Duarte, F. H., Jallad, R. S., & Bronstein, M. D. (2015). Clomiphene citrate for treatment of acromegaly not controlled by conventional therapies. The Journal of Clinical Endocrinology & Metabolism, 100(5), 1863-1869.

[6] De Herder, W. W. (2016). The history of acromegaly. Neuroendocrinology, 103(1), 7-17.

[7] Ceccato, F., Lizzul, L., Zilio, M., Barbot, M., Denaro, L., Emanuelli, E., & Boscaro, M. (2016). Medical Treatment for Acromegaly does not increase the risk of central adrenal insufficiency: A long-term follow-up study. Hormone and Metabolic Research, 48(08), 514-519.

[8] Burton, T., Le Nestour, E., Neary, M., & Ludlam, W. H. (2016). Incidence and prevalence of acromegaly in a large US health plan database. Pituitary, 19(3), 262-267. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/26792654

[9] Gnanalingham, K. K., Wang, Y. Y., Abou-Zeid, A., Kearney, T., Davis, J., & Trainer, P. (2016). Predictors of Remission following Transsphenoidal Surgery for Acromegaly: Value of Early Postoperative Growth Hormone Testing. Journal of Neurological Surgery Part B: Skull Base, 77(S 02), LFP-02.

[10] Fatehi, M., Hunt, C., & Akagami, R. (2017). Determinants of Quality of Life Improvement after Pituitary Surgery in Patients with Acromegaly. Journal of Neurological Surgery Part B: Skull Base, 78(S 01), A075.