Rare Medical News

Disease Profile

Acromegaly

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

5-7/100,000

16,550-23,170

US Estimated

25,675-35,945

Europe Estimated

Age of onset

Elderly

ageofonset-elderly.svg

ICD-10

E22.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Somatotroph adenoma; Growth hormone excess; Pituitary giant

Categories

Endocrine Diseases; Female Reproductive Diseases; Metabolic disorders;

Summary

Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that; alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. The condition is usually caused by benign tumors on the pituitary called adenomas. Rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain stimulating the pituitary gland to produce GH.[1][2] It is sporadic in 95% of the cases, but almost 50% of the childhood-onset cases have an identifiable gene mutation, most commonly in the AIP gene or GPR101 gene.[3][2] Treatment may include hormones, radiotherapy, and surgery. When left untreated, it can result in serious illness and premature death. When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.[1][2]

Acromegaly may also be part of other genetic syndromes such as multiple endocrine neoplasia syndrome type 1 and type 4hereditary paraganglioma-pheochromocytoma syndromeMcCune-Allright syndromeneurofibromatosis or Carney complex.[3]

Symptoms

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anterior hypopituitarism

0000830

Arthralgia
Joint pain

0002829

Broad foot
Broad feet
Wide foot

[ more ]


0001769

Broad forehead
Increased width of the forehead
Wide forehead

[ more ]


0000337

Coarse facial features
Coarse facial appearance

0000280

Cortical diaphyseal thickening of the upper limbs

0003859

Deep palmar crease
Deep palm line

0006191

Deep plantar creases
Deep wrinkles in soles of feet

0001869

Fatigue
Tired
Tiredness

[ more ]


0012378

Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]


0000293

Growth hormone excess

0000845

Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]


0000975

Joint swelling

0001386

Large hands
large hand

0001176

Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]


0000276

Long penis
Enlarged penis

0000040

Macrodactyly
Finger overgrowth

0004099

Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]


0000158

Macrotia
Large ears

0000400

Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]


0000303

Osteoarthritis
Degenerative joint disease

0002758

Pituitary growth hormone cell adenoma

0011760

Tall stature
Increased body height

0000098

Tapered finger
Tapered fingertips
Tapering fingers

[ more ]


0001182

Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]


0000179

Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]


0000445

30%-79% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]


0001231

Abnormal toenail morphology
Abnormality of the toenail
Abnormality of the toenails

[ more ]


0008388

Anxiety
Excessive, persistent worry and fear

0000739

Broad jaw
Broad lower face
Wide jaw

[ more ]


0012802

Cerebral palsy

0100021

Depressivity
Depression

0000716

Diabetes mellitus

0000819

Dysmenorrhea
Painful menstruation

0100607

Frontal bossing

0002007

Generalized hirsutism
Excessive hairiness over body

0002230

Hoarse voice
Hoarseness
Husky voice

[ more ]


0001609

Hypertension

0000822

Hypogonadotropic hypogonadism

0000044

Kyphosis
Hunched back
Round back

[ more ]


0002808

Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]


0002076

Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids

[ more ]


0100540

Paresthesia
Pins and needles feeling
Tingling

[ more ]


0003401

Sleep apnea
Pauses in breathing while sleeping

0010535

Spinal canal stenosis
Narrow spinal canal

0003416

Synophrys
Monobrow
Unibrow

[ more ]


0000664

Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]


0000687

5%-29% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin

0000956

Acne

0001061

Dysuria
Painful or difficult urination

0100518

Galactorrhea
Spontaneous milk flow from breast

0100829

Generalized hyperpigmentation

0007440

Hypersomnia
Excessive sleepiness

0100786

Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle

0001639

Impotence
Difficulty getting a full erection
Difficulty getting an erection

[ more ]


0000802

Mitral regurgitation

0001653

Pituitary prolactin cell adenoma

0006767

Wide penis

0030265

Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
      • The Pituitary Society has a patient education booklet on Acromegaly with information on symptoms, diagnosis, treatment, and more.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Acromegaly. Click on the link to view a sample search on this topic.

          References

          1. Acromegaly. NEMDIS. https://www.endocrine.niddk.nih.gov/pubs/acro/acro.htm.
          2. Acromegaly. Orphanet. 2014; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=408.
          3. Gadelha MR, Kasuki L & Korbonits M. The genetic background of acromegaly. Pituitary. February 4, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28161730.