Acromegaly Remains Under-recognized and Under-diagnosed
Acromegaly Remains Under-recognized and Under-diagnosed
Background Traditionally, acromegaly evaded diagnosis until in its clinically obvious later stages when treatment is more difficult. Over the last 25 years diagnostic tests have improved, but whether clinical disease detection also improved was unknown, so we tested if disease severity at diagnosis had changed from 1981 to 2006.
Methods Data on 324 consecutive acromegaly patients presenting from 1981 to 2006 at two New York City hospitals were collected by retrospective review (n = 324) and by interview (n = 200). The main complaint, acromegaly associated comorbidities, signs, symptoms, healthcare providers visited, preoperative GH and IGF-I levels and pituitary tumour size at diagnosis were compared in patients presenting in the earlier vs. later halves of the time period.
Results Times from symptom onset to diagnosis were 5·9 year (early) vs. 5·2 year (late; P = NS). At diagnosis, 96% of early and late groups had facial feature changes and/or hand/foot enlargement. Comorbidities included hypertension 37% (early) vs. 36% (late), carpal tunnel syndrome (24%vs. 24%), sleep apnoea (13%vs. 29%; P < 0·01), osteoarthritis (25%vs. 23%) and diabetes mellitus (18%vs. 15%); each patient had 1·2 (early) vs. 1·3 (late; P = 0·53) comorbidities. Groups were similar in signs, symptoms, tumour size, GH and IGF-I.
Conclusions Clinical, biochemical and tumour size characteristics at diagnosis of acromegaly patients were unchanged from 1981 to 2006. Most patients still have marked manifestations of acromegaly at diagnosis, suggesting that acromegaly remains clinically under-recognized. Healthcare professionals should more commonly consider acromegaly, which can lead to earlier diagnosis and better treatment outcome.
Acromegaly is a rare disease that is due in almost all cases to a GH-secreting pituitary tumour. Excess GH and the resultant elevations of IGF-I, the biochemical hallmarks of this disease, produce its characteristic multisystem, often disfiguring, physical manifestations as well as its clinically significant comorbidities including diabetes mellitus (DM), hypertension (HTN), arthritis, sleep apnoea and cardiovascular disease. When inadequately treated, acromegaly impairs patients' quality of life and leads to a two- to fivefold increase in mortality rate.
Acromegaly has long been known for its insidious nature and long delay from onset of symptoms to diagnosis. The reasons why acromegaly has traditionally been under-recognized are unclear, but could include its slowly progressive course allowing its changes to go un-noticed by the patient, family members or physicians, as well as the overlap of many of its comorbidities with common disorders. Patients typically visit a number of healthcare providers prior to diagnosis.
As effective therapies can now prevent disease progression and return lifespan to normal, early recognition of acromegaly is essential. Recent developments including highly sensitive biochemical markers, both GH and IGF-I, and MRI scans to identify small tumours are available for diagnosing acromegaly. Biochemical methods have thus clearly improved and should allow for the diagnosis to be made earlier, but it is unknown if the factor critical to beginning the evaluation for acromegaly, an initial clinical suspicion by a healthcare professional, occurs at an earlier disease stage in more recent times. An analysis of changes over time in the clinical characteristics at diagnosis of acromegaly could be used to measure if the disease is being detected earlier. Therefore, in order to determine whether or not the severity of acromegaly at the time of its clinical recognition and thus its diagnosis had decreased in recent years, we evaluated 324 consecutive patients diagnosed with acromegaly from 1981 to 2006 in New York City, comparing the clinical and biochemical characteristics at diagnosis of those patients presenting in the earlier vs. later halves of this time period.
Abstract and Introduction
Abstract
Background Traditionally, acromegaly evaded diagnosis until in its clinically obvious later stages when treatment is more difficult. Over the last 25 years diagnostic tests have improved, but whether clinical disease detection also improved was unknown, so we tested if disease severity at diagnosis had changed from 1981 to 2006.
Methods Data on 324 consecutive acromegaly patients presenting from 1981 to 2006 at two New York City hospitals were collected by retrospective review (n = 324) and by interview (n = 200). The main complaint, acromegaly associated comorbidities, signs, symptoms, healthcare providers visited, preoperative GH and IGF-I levels and pituitary tumour size at diagnosis were compared in patients presenting in the earlier vs. later halves of the time period.
Results Times from symptom onset to diagnosis were 5·9 year (early) vs. 5·2 year (late; P = NS). At diagnosis, 96% of early and late groups had facial feature changes and/or hand/foot enlargement. Comorbidities included hypertension 37% (early) vs. 36% (late), carpal tunnel syndrome (24%vs. 24%), sleep apnoea (13%vs. 29%; P < 0·01), osteoarthritis (25%vs. 23%) and diabetes mellitus (18%vs. 15%); each patient had 1·2 (early) vs. 1·3 (late; P = 0·53) comorbidities. Groups were similar in signs, symptoms, tumour size, GH and IGF-I.
Conclusions Clinical, biochemical and tumour size characteristics at diagnosis of acromegaly patients were unchanged from 1981 to 2006. Most patients still have marked manifestations of acromegaly at diagnosis, suggesting that acromegaly remains clinically under-recognized. Healthcare professionals should more commonly consider acromegaly, which can lead to earlier diagnosis and better treatment outcome.
Introduction
Acromegaly is a rare disease that is due in almost all cases to a GH-secreting pituitary tumour. Excess GH and the resultant elevations of IGF-I, the biochemical hallmarks of this disease, produce its characteristic multisystem, often disfiguring, physical manifestations as well as its clinically significant comorbidities including diabetes mellitus (DM), hypertension (HTN), arthritis, sleep apnoea and cardiovascular disease. When inadequately treated, acromegaly impairs patients' quality of life and leads to a two- to fivefold increase in mortality rate.
Acromegaly has long been known for its insidious nature and long delay from onset of symptoms to diagnosis. The reasons why acromegaly has traditionally been under-recognized are unclear, but could include its slowly progressive course allowing its changes to go un-noticed by the patient, family members or physicians, as well as the overlap of many of its comorbidities with common disorders. Patients typically visit a number of healthcare providers prior to diagnosis.
As effective therapies can now prevent disease progression and return lifespan to normal, early recognition of acromegaly is essential. Recent developments including highly sensitive biochemical markers, both GH and IGF-I, and MRI scans to identify small tumours are available for diagnosing acromegaly. Biochemical methods have thus clearly improved and should allow for the diagnosis to be made earlier, but it is unknown if the factor critical to beginning the evaluation for acromegaly, an initial clinical suspicion by a healthcare professional, occurs at an earlier disease stage in more recent times. An analysis of changes over time in the clinical characteristics at diagnosis of acromegaly could be used to measure if the disease is being detected earlier. Therefore, in order to determine whether or not the severity of acromegaly at the time of its clinical recognition and thus its diagnosis had decreased in recent years, we evaluated 324 consecutive patients diagnosed with acromegaly from 1981 to 2006 in New York City, comparing the clinical and biochemical characteristics at diagnosis of those patients presenting in the earlier vs. later halves of this time period.