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Acromegaly

What is Acromegaly?

Acromegaly - also known as Growth Hormone-Secreting Pituitary Adenoma, Growth Hormone Excess, Somatotropic Adenoma, Somatotroph Adenoma, Somatotrophinoma, and Giant Pituitary6 - is a rare disease, which can lead to the overgrowth of certain body parts. In most individuals Acromegaly is caused by tumours in the pituitary gland, which causes over production of growth hormone - often abbreviated to GH3. It is rare for an individual to inherit the condition as tumours occur5 - this leads to the condition being called an “acquired disorder.”6 The tumours, and thus Acromegaly, most often presents in individuals aged 40 to 50, but it has been known to occur in individuals right after puberty.3 It is important to not that Acromegaly causing gigantism may occur before puberty7.

 

Acromegaly - also known as Growth Hormone-Secreting Pituitary Adenoma, Growth Hormone Excess, Somatotropic Adenoma, Somatotroph Adenoma, Somatotrophinoma, and Giant Pituitary6 - is a rare disease, which can lead to the overgrowth of certain body parts. In most individuals Acromegaly is caused by tumours in the pituitary gland, which causes over production of growth hormone - often abbreviated to GH3. It is rare for an individual to inherit the condition as tumours occur5 - this leads to the condition being called an “acquired disorder.”6 The tumours, and thus Acromegaly, most often presents in individuals aged 40 to 50, but it has been known to occur in individuals right after puberty.3 It is important to not that Acromegaly causing gigantism may occur before puberty7.

Special thanks to: 

Writer: Vladimir Novakovic, Research Associate, RareShare

Reviewer: John Wass, MD, Department of Endocrinology of Carol Davila University of Medicine and Pharmacy

The prevalence of the condition worldwide it is thought to be 1-9/100,0006 individuals7. Males and females are affected equally4.

Synonyms for Acromegaly has not been added yet.

Acromegaly is caused by benign - non-cancerous - tumours in the pituitary gland1 -in the base of the skull3 - called adenomas. In very few individuals, it is caused by tumours of the pancreas, lungs, or other parts of the brain1 because these organs can release growth hormone release hormone - commonly abbreviated to GHRH - which stimulates growth hormone – commonly abbreviated to GH7 – production in the pituitary gland3. Most tumours usually form from a genetic mutation in one a single, pituitary cell called a somatotrope cell (the pituitary cell that normally secretes GH). This mutation causes uncontrolled growth and reproduction of these cells. The tumours - if they are in the pituitary gland - secrete high levels of growth hormones (GH).

If Acromegaly occurs in puberty, the individual may experience giantism5. The symptoms appear gradually, and as the individual ages it is likely that the symptoms will become more pronounced. In most individuals, Acromegaly results in gradual enlargement of facial bones (as well as soft tissues and cartilage in the face), tongue, lips, hands, feet and cartilage (in other parts of the body) which can lead to joint pain. People with acromegaly may also develop a deep and husky voice due to thickening of the vocal cords and enlargement of the sinuses. Acrochordon (skin tags), hypertrichosis (excessive hair growth), hyperpigmentation (when an area of skin becomes darker than the surrounding skin, and is usually harmless) and hyperhidrosis (excessive sweating) are not uncommon3.

 

The overgrowth of tissue can lead to damaged nerves, causing carpal tunnel syndrome. In severe individuals it has lead to enlargement of the heart, causing irregular heartbeat and possibly congestive heart failure. Several conditions can be caused by Acromegaly, such as sleep apnea, high blood pressure, impaired vision or blindness, diabetes, and colon cancer. Males may experience decreased libido, and females may experience galactorrhea - abnormal milk flow from the breasts - and oligomenorrhea - infrequent or delayed menstrual flow.

Name Description
hGH secretion hGH secretion
Soft tissue swelling Soft tissue swelling
Generalized expansion of the skull Generalized expansion of the skull
Pronounced brow protrusion Pronounced brow protrusion
Pronounced lower jaw protrusion Pronounced lower jaw protrusion

It is easy to overlook Acromegaly, as the symptoms develop slowly over a long period of time3. To make a diagnosis it is necessary to make a detailed history of an individual’s symptom history. Otherwise specialised tests can be used, such as blood tests, a glucose tolerance test, magnetic resonance imaging (MRI) or computerized tomography (CT) scan. Additional tests may be performed to assess the extent of acromegaly in an individual including echocardiography to evaluate whether the heart is involved3.

 

Patients with Acromegaly may be at increased risk for bone fractures, and testing with X-rays or assessment of bone mineral density with a DXA (Dual X-ray absorptiometry) scan may be ordered3. If Acromegaly is left diagnosed it can lead to disfigurement, or premature death5.

 

If acromegaly is suspect, it can be tested for through blood tests and glucose tolerance tests. The size of the tumour is also assessed and this can be via magnetic resonance imaging (MRI) or a computerized tomography (CT) scan, a CT however, may not show enough to confirm acromegaly. To determine the clinical impact of the disorder, x-rays and dual x-ray absorptiometry may be done, to measure increased risk of bone fracture. Patients may also undergo echocardiography and sleep apnea testing3.

 

Additional tests include an oral glucose tolerance test - a OGTT - or by detecting increased levels of an insulin like growth factor - IGF-I. Examining the tumours properties, such as volume, may be helpful4.

Treatment is aimed at correcting (or preventing) tumour compression by excising the disease-causing lesion, and at reducing GH levels to normal values5. Acromegaly is usually treated by transsphenoidal surgery; a procedure in which all or part of a pituitary tumour is removed.3 For patients where surgery is not possible or was not curative, medication can be used to treat acromegaly. Octreotide, pasireotide, lanreotide, cabergoline7, and pegvisomant may be prescribed1. These medications are known as orphan drugs, because they affect a small percentage of the population1. In individuals where medical treatment fails, radiotherapy may be discussed as third line treatment4.

If the disease is detected early enough, adequate hormonal disease control is achieved for most individuals, and allows a life expectancy similar to that of the general population5. However, if it is left undiagnosed and untreated, then premature death, or disfigurement may occur5.

There are many support organisations/groups that can offer support to individuals dealing with the diseases, or their caregivers. An especially recommended resource is http://www.pituitary.org.uk/ 7

1 Acromegaly. Genetics Home Reference. Available at: https://rarediseases.info.nih.gov/gard/5725/acromegaly/resources/1

2 Pituitary Adenoma 2, Growth-Hormone Secreting. Online Mendelian Inheritance in Man (OMIM). Available at: http://omim.org/entry/300943?search=Acromegaly&highlight=acromegaly

3 Acromegaly. The National Organization for Rare Disorders. Available at: http://rarediseases.org/rare-diseases/acromegaly/

4 Acromegaly. OrphaNet. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=963

5 Acromegaly. Wikipedia. Available at: https://en.wikipedia.org/wiki/Acromegaly

6 Acromegaly. Malacards. Available at: http://www.malacards.org/card/acromegaly?search=+ACROMEGALY

7 Dr. John Wass

 

Review Article

Author Contact Information

60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly.

Capatina C, Wass JA.

J Endocrinol. 2015 Aug;226(2):T141-60. doi: 10.1530/JOE-15-0109. Epub 2015 Jul 1. Review.

PMID: 26136383

Capatina C

Wass JA: john.wass@nhs.net

Progress in the Diagnosis and Classification of Pituitary Adenomas.

Syro LV, Rotondo F, Ramirez A, Di Ieva A, Sav MA, Restrepo LM, Serna CA, Kovacs K.

Front Endocrinol (Lausanne). 2015 Jun 12;6:97. doi: 10.3389/fendo.2015.00097. eCollection 2015. Review.

PMID: 26124750

Syro LV

Rotondo F

Ramirez A

Di Ieva A

Sav MA

Restrepo LM

Serna CA

Kovacs K.

Diabetes mellitus, chronic complication in patients with acromegaly: case report and review of the literature.

Galesanu C, Buzduga C, Florescu A, Moisii L, Ciubotaru V.

Rev Med Chir Soc Med Nat Iasi. 2015 Jan-Mar;119(1):92-6. Review.

PMID: 25970949

Galesanu C

Buzduga C

Florescu A

Moisii L

Ciubotaru V

Therapeutic uses of somatostatin and its analogues: Current view and potential applications.

Rai U, Thrimawithana TR, Valery C, Young SA.

Pharmacol Ther. 2015 Aug;152:98-110. doi: 10.1016/j.pharmthera.2015.05.007. Epub 2015 May 5. Review.

PMID: 25956467

Rai U: umadevi.dojaiprakashrai@rmit.edu.au

Thrimawithana TR

Valery C

Young SA

The quality of life and psychological, social and cognitive functioning of patients with acromegaly.

Szcześniak D, Jawiarczyk-Przybyłowska A, Rymaszewska J.

Adv Clin Exp Med. 2015 Jan-Feb;24(1):167-72. doi: 10.17219/acem/38156. Review.

PMID: 25923102

Szcześniak D

Jawiarczyk-Przybyłowska A

Rymaszewska J

Pituitary diseases and bone.

Mazziotti G, Chiavistelli S, Giustina A.

Endocrinol Metab Clin North Am. 2015 Mar;44(1):171-80. doi: 10.1016/j.ecl.2014.10.014. Epub 2014 Nov 4. Review.

PMID: 25732653

Mazziotti G

Chiavistelli S

Giustina A: a.giustina@libero.it

 

 

 

Non-Review Articles

Author Contact Information

The care continuum in acromegaly: how patients, nurses, and physicians can collaborate for successful treatment experiences.

Plunkett C, Barkan AL.

Patient Prefer Adherence. 2015 Jul 30;9:1093-9. doi: 10.2147/PPA.S84887. eCollection 2015.

PMID: 26251582

Plunkett C

Barkan AL

RADIOTHERAPY VERSUS RADIOSURGERY IN TREATING PATIENTS WITH ACROMEGALY: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Abu Dabrh AM, Asi N, Farah WH, Mohammed K, Wang Z, Farah MH, Prokop LJ, Katznelson L, Murad MH.

Endocr Pract. 2015 Aug;21(8):943-56. doi: 10.4158/EP14574.OR.

PMID: 26247235

Abu Dabrh AM

Asi N

Farah WH

Mohammed K

Wang Z

Farah MH

Prokop LJ

Katznelson L

Murad MH

CT pulmonary densitovolumetry in patients with acromegaly: a comparison between active disease and controlled disease.

Camilo GB, Carvalho AR, Machado DC, Mogami R, Melo PL, Lopes AJ.

Br J Radiol. 2015 Aug 6:20150315. [Epub ahead of print]

PMID: 26246281

Camilo GB

Carvalho AR

Machado DC

Mogami R

Melo PL

Lopes AJ

The incidence of cancer amongst acromegaly patients: results from the German Acromegaly Registry.

Petroff D, Tönjes A, Grussendorf M, Droste M, Dimopoulou C, Stalla G, Jaursch-Hancke C, Mai M, Schopohl J, Schöfl C.

J Clin Endocrinol Metab. 2015 Aug 5:jc20152372. [Epub ahead of print]

PMID: 26244491

Petroff D

Tönjes A

Grussendorf M

Droste M

Dimopoulou C

Stalla G

Jaursch-Hancke C

Mai M

Schopohl J

Schöfl C.

Pegvisomant in combination with long-acting somatostatin analogues in acromegaly: the role of the growth hormone receptor deletion of exon 3.

Franck SE, Van der Lely AJ, Delhanty PJ, Jorgensen JO, Neggers SJ.

Eur J Endocrinol. 2015 Aug 4. pii: EJE-15-0519. [Epub ahead of print]

PMID: 26243033

Franck SE: s.franck@erasmusmc.nl

Van der Lely AJ

Delhanty PJ

Jorgensen JO

Neggers SJ

Postoperative changes in bone metabolism and bone mineral density in Japanese patients with acromegaly: a 3-year prospective study.

Tamada D, Kitamura T, Takahara M, Oshino S, Saitoh Y, Otsuki M, Shimomura I.

Endocr J. 2015 Jul 28. [Epub ahead of print]

PMID: 26228662

Tamada D

Kitamura T

Takahara M

Oshino S

Saitoh Y

Otsuki M

Shimomura I

Cardiovascular Disease and Sleep Disordered Breathing in Acromegaly.

Gurnell M, Powlson AS.

Neuroendocrinology. 2015 Jul 28. [Epub ahead of print]

PMID: 26227953

Gurnell M

Powlson AS

Prediction of therapy response in acromegalic patients under pegvisomant therapy within the German ACROSTUDY cohort.

Sievers C, Baur DM, Schwanke A, Buchfelder M, Droste M, Mann K, Stalla GK.

Pituitary. 2015 Jul 30. [Epub ahead of print]

PMID: 26224528

Sievers C: csievers@mpipsykl.mpg.de

Baur DM

Schwanke A

Buchfelder M

Droste M

Mann K

Stalla GK

Evaluation of blood neutrophil to lymphocyte and platelet to lymphocyte ratios according to plasma glucose status and serum insulin-like growth factor 1 levels in patients with acromegaly.

Üçler R, Aslan M, Atmaca M, Alay M, Ademoğlu EN, Gülşen I.

Hum Exp Toxicol. 2015 Jul 29. pii: 0960327115597313. [Epub ahead of print]

PMID: 26224042

Üçler R: rifkiucler@gmail.com

Aslan M

Atmaca M

Alay M

Ademoğlu EN

Gülşen I

 

Acromegaly Research Created by Nicole624
Last updated 7 Nov 2013, 07:08 PM

Posted by Nicole624
7 Nov 2013, 07:08 PM

Hi everyone! My name is Nicole and I am currently conducting research for a possible documentary on women who developed a rare medical condition later on in life. I am interested in learning more about Acromegaly, since it is a condition that many of you struggle with. I would love to hear your own stories, and how acromegaly has affected your own life. If you are interested, send an email over to courtneymillercasting@gmail.com with a brief background of your story. Can't wait to hear from you!

In "CURE" stage Created by Momof2miracles
Last updated 11 Jun 2013, 06:25 PM

Posted by Momof2miracles
11 Jun 2013, 06:25 PM

I had surgery February 22, 2013, to remove the macroadenoma on my pituitary. The surgery appears to be successful and my IGF-1 levels are in the "normal" range as of this week. I still feel horrible. No energy, aching all over, my joints are screaming with every movement and I am battling hypothyroidism and very low Vitamin D levels now. Has anyone else suffered these types of maladies after surgery? I honestly expected that I would feel much better if I were in fact "cured" of something.... but now I am learning that the damage done may be permanent. Why is there so little information available about the long term effects of Acromegaly?

Acromegaly Created by quepasadavid
Last updated 2 Mar 2010, 07:11 AM

Posted by quepasadavid
2 Mar 2010, 07:11 AM

I was diagnosed in Dec 1994. Age 28. Had surgery immedialty to reduce pressure on pituitary gland. in 1997 had gamma knife radiation. Now in 2010. Lab work shows no signs of the disease. Technically im cured. I have MRI's every two years to check for signs of growth. No change. Tumor still at 2.3 cm. Fortunetly it was caught early before disfiguration occurred. Severe knee dropping headaches and loss of vision prompted tests and it was discovered. Surgery was scary but successfull.

Community External News Link
Title Date Link
Rare disease acromegaly finds an Ottawa champion 11/18/2018
Community Resources
Title Description Date Link
Acromegaly.org

A website sponsored by the non-profit group, Pituitary Network Association, about Acromegaly.

03/20/2017

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Visit sanfordresearch.org/CoRDS to enroll.

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Acromegaly Research

Created by Nicole624 | Last updated 7 Nov 2013, 07:08 PM

In "CURE" stage

Created by Momof2miracles | Last updated 11 Jun 2013, 06:25 PM

Acromegaly

Created by quepasadavid | Last updated 2 Mar 2010, 07:11 AM


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