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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.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

Elderly

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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; arthritiscarpal 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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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

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.

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