Acromegaly is a rare hormonal disorder that develops when the body produces too much growth hormone (GH) in adulthood. This overproduction leads to a range of distinctive physical changes, particularly affecting the face. These alterations often occur gradually over many years, making them difficult to notice in early stages. This slow progression can delay diagnosis.
Hallmark Facial Changes
Individuals with acromegaly develop a characteristic facial appearance due to excess growth hormone. The nose enlarges and broadens. Lips become thicker, and the tongue may enlarge (macroglossia), which can lead to speech difficulties or sleep apnea.
The jawbone becomes more prominent, extending forward (prognathism), which can cause increased spacing between the teeth. The forehead and brow ridge may broaden and protrude. Facial skin can thicken and become oily, and existing facial lines may deepen. These changes affect both sides of the face symmetrically and progress over time if the condition remains untreated.
The Role of Growth Hormone in Facial Alterations
The underlying cause of these facial changes is excessive growth hormone (GH), most commonly from a non-cancerous tumor in the pituitary gland, known as a pituitary adenoma. This excess GH stimulates the liver to produce elevated levels of insulin-like growth factor 1 (IGF-1). IGF-1 is a hormone that directly promotes the growth of bones and other body tissues.
Chronic overstimulation by elevated GH and IGF-1 levels leads to the growth of bone, cartilage, and soft tissues throughout the body, including facial structures. The effects on skeletal structures like the jaw and brow are due to new bone formation, while soft tissue changes like thickened lips and nose result from tissue hypertrophy.
Identifying and Addressing Facial Changes
Diagnosis of acromegaly often begins with recognizing characteristic facial changes, sometimes by comparing current appearance with old photographs. Once suspected, diagnosis is confirmed through blood tests measuring growth hormone (GH) and insulin-like growth factor 1 (IGF-1) levels. An elevated IGF-1 level is a key indicator, and a glucose tolerance test can further confirm inappropriate GH suppression.
An MRI of the pituitary gland is then performed to identify the presence and size of a pituitary tumor. The primary goal of acromegaly treatment, which may involve surgery to remove the tumor, medication, or radiation therapy, is to normalize GH and IGF-1 levels. Successfully lowering these hormone levels halts the progression of facial changes and prevents further disfigurement.
While treatment can stop further growth, existing bone changes, such as the enlarged jaw or prominent brow, are irreversible. However, soft tissue changes, including thickened lips, nose, and skin, may partially regress over time, leading to some improvement in appearance. Complete reversal of all facial changes is uncommon, but improvements can occur.
Living with Acromegaly’s Facial Impact
Living with the noticeable facial changes caused by acromegaly can present psychological and social challenges. Individuals may experience body image concerns, leading to self-consciousness and social withdrawal. These physical alterations can contribute to feelings of anxiety and, in some cases, depression.
Coping strategies include seeking support from patient groups, engaging in psychological counseling, and maintaining open communication with healthcare providers. These resources help individuals navigate the emotional impact of their altered appearance. Early diagnosis, though challenging due to the gradual nature of the changes, can limit the extent of facial alterations and lessen the long-term psychosocial impact.