Acromegaly is one of those diseases that immediately caught our attention when we first heard about it in medical school. We stared at the textbook pictures of big hands and coarse faces—maybe a very tall young man photographed next to a person of average height. We were led to believe that although acromegaly is a rare disease, it is certainly easy to spot once encountered. Patients with acromegaly are being diagnosed late...with many patients waiting more than 10 years. Further along in training, we probably came across a patient with florid acromegaly, and the impression grew deeper. We heard a deep, gravelly voice telling us about the rings that no longer fit on enlarged fingers, the need to buy bigger-sized shoes and hats (although this is becoming an outdated fashion accessory and not that useful in diagnosis), headaches, increased sweating, snoring, joint pains, hand tingling, oilier skin, and maybe more body hair. We might have examined a mild-tempered, middle-aged lady or gentleman with doughy skin; deep facial creases; enlarged nose, tongue, lips, and supraorbital ridges; large pores; skin tags; prognathism; an underbite with spaced teeth; impaired visual fields; and those impressive large hands and feet with thick and hard nails. We talked with our instructor about how the patient has hypertension, diabetes, lipids out of range, kidney stones because of high calcium in the urine, obstructive sleep apnea, heart failure with enlarged heart muscle and diastolic dysfunction, and if we looked for them, probably gallstones, colon polyps, and thyroid nodules—all related to the increased growth hormone. Such encounters might have further accentuated the impression that this disease is unmistakable and easily spotted. But is this true? Ten Years Is Too Long to Wait With all of the knowledge and advances in medicine, patients with acromegaly are still being diagnosed late, with a median delay of 5 years after symptom onset and with many patients waiting more than 10 years.[1] This has improved some since the late 1990s, when the average delay was about 8 years, but there is still a lot of room for improvement.[2] The incidence rate has increased to about 12 cases per million person-years in the United States in 2013, four times higher than in older European studies.[3] On a positive note, mortality in patients with acromegaly has improved from being two- to threefold higher to being almost similar to that of the general population.[4] However, mortality might still be higher in women.[5] The cause of death has shifted from cardiovascular disease to cancer over the past decade.[4,5] The improvement in life expectancy in patients with acromegaly is most likely due to improvements in surgical technique and more drug options, but also to diagnosis earlier in the disease course. How Do We Know What to Look For? Medical textbooks frequently show the progression of acromegaly in a string of photos where you can follow the changes in facial features over the course of several years. The last photograph is one by which almost any medical provider can make the diagnosis with just a glimpse. How can we pick up earlier signs of the disease and use the clues that the patient is giving us to sooner reach the threshold that makes us think, "Is there something else? What about acromegaly? Should I check insulin-like growth factor–1 (IGF-1)?" This might be more difficult for primary care physicians, because although they see their patients more frequently and over a longer span of time, they "grow old" together and may attribute insidious physical changes and arthritis to aging. Diabetes, hypertension, and obstructive sleep apnea are common, and the increased pressure to see more patients may not allow for taking a moment to put these things together. What Studies Are Telling Us From 2012 to 2014, 81 patients with acromegaly in New Zealand were interviewed about their diagnosis.[carpal tunnel syndrome, constipation, and thyroid nodules, whereas men have more prognathism, sleep apnea, and heart failure.[prolactinoma has been made. As many as 25% of growth hormone–producing adenomas co-secrete prolactin,[infertility are fairly early signs of acromegaly related to excess growth hormone, excess prolactin, or secondary hypogonadism due to tumor compression of the pituitary gland. In more advanced stages of the disease, patients may present with visual field abnormalities, cranial nerve deficits, or adrenal and thyroid insufficiency secondary to the mass effect of a large macroadenoma. Lowering the Threshold for Screening Now let's go back to the drawer in your mind where the information about acromegaly is stored. Next to the folder on florid acromegaly, add another folder with several patients who have more subtle acromegaly findings that should trigger ordering an IGF-1. One such patient might have type 2 diabetes and obstructive sleep apnea, though without severe obesity or excessive sweating and oily skin. Another patient might have headaches, hand numbness, and thyroid nodules, or decreased libido, breast enlargement, and galactorrhea. Enlarged hands and feet might not be striking, but the patient would usually offer the information upon asking. Keeping a low threshold for screening will bring us a step closer to diagnosing acromegaly at a stage when not too many irreversible complications exist. Source
