Acromegaly

What it is

From: Orphanet

A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormality of the endocrine system · Very frequent (99-80%)

An abnormality of the endocrine system.

Acral overgrowth · Very frequent (99-80%)

Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.

Anterior hypopituitarism · Very frequent (99-80%)

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.

Arthralgia · Very frequent (99-80%)

Joint pain.

Broad foot · Very frequent (99-80%)

A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.

Broad forehead · Very frequent (99-80%)

Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.

Coarse facial features · Very frequent (99-80%)

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Deep palmar crease · Very frequent (99-80%)

Excessively deep creases of the palm.

Deep plantar creases · Very frequent (99-80%)

The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.

Elevated circulating growth hormone concentration · Very frequent (99-80%)

Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.

Fatigue · Very frequent (99-80%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Full cheeks · Very frequent (99-80%)

Increased prominence or roundness of soft tissues between zygomata and mandible.

Hyperhidrosis · Very frequent (99-80%)

Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.

Long face · Very frequent (99-80%)

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).

Other findings in the same source

From: Orphanet

Additional reported features include Macrodactyly (Very frequent (99-80%)); Macroglossia (Very frequent (99-80%)); Macrotia (Very frequent (99-80%)); Mandibular prognathia (Very frequent (99-80%)); Osteoarthritis (Very frequent (99-80%)); Pituitary growth hormone cell adenoma (Very frequent (99-80%)); Seborrheic dermatitis (Very frequent (99-80%)); Tapered finger (Very frequent (99-80%)); Thickened skin (Very frequent (99-80%)); Wide nose (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood; Elderly; Infancy

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Annual incidence: 1-9 / 1 000 000; Worldwide; Value and class. Point prevalence: 1-9 / 100 000; Spain; Value and class. Point prevalence: 1-9 / 100 000; Italy; Value and class. Point prevalence: 1-9 / 100 000; United Kingdom; Value and class.

Which doctor should you see?

The suggested department for discussing Acromegaly is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Acromegaly. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.