ENDOCRINE MANIFESTATIONS OF ERDHEIM-CHESTER DISEASE
AACE ePoster Library. Maraka S. 05/14/15; 97737; 708
Spyridoula Maraka
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Abstract
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OBJECTIVE: Erdheim-Chester Disease (ECD) is a rare hematologic disease manifesting as granulomatous or fibrotic infiltration of long bones and non-skeletal tissues by non-Langerhans foamy histiocytic cells. The clinical presentation can be diverse and any organ can be affected. Our objective was to report on the endocrine manifestations of ECD.
METHODS: We retrospectively reviewed the medical records of patients evaluated at Mayo Clinic from January 1990 to June 2014. A tissue biopsy reviewed by pathologists at Mayo Clinic was necessary for inclusion in the study. In all cases, the diagnosis of ECD was confirmed using clinical criteria in conjunction with histopathologic findings. Clinical data such as patient characteristics and disease presentation, laboratory, and imaging data were collected.
RESULTS: Fifty-five patients with confirmed ECD were included in our study. The median age at diagnosis was 55 years (range, 30-80), while the median time of onset of symptoms prior to diagnosis was 24 months (range, 1-275). There was a male predilection with a male to female ratio of 1.5:1. Bone pain was the most common presenting symptom (42%) followed by polyuria/polydipsia (22%). Imaging revealed involvement of the skeletal system in 44/55 (80%) of the patients, kidneys 29/52 (56%), pituitary/hypothalamus in 12/40 (30%), and adrenal glands in 9/52 (17%). Central diabetes insipidus (CDI) was confirmed in 14/44 (32%) of patients. Fifteen patients out of 48 checked had primary hypothyroidism (31%) and 4/48 (8%) had secondary hypothyroidism. Four patients had secondary adrenal insufficiency (17%) and 2/24 had primary adrenal insufficiency (8%). Central hypogonadism was found in 15/20 (75%) of patients, whereas 2/20 (10%) had primary hypogonadism. Growth hormone (GH) deficiency was found in 5/16 (31%) patients and 3/18 (17%) patients had hyperprolactinemia.
DISCUSSION: This is the largest case-series of patients with ECD. ECD is an extremely rare diagnosis as exemplified in our retrospective analysis. Other than skeletal involvement associated with bone pain, the non-skeletal endocrine manifestations seen in patients with ECD include CDI, hypothyroidism, adrenal insufficiency, hypogonadism, GH deficiency, and hyperprolactinemia.
CONCLUSION: We suggest that ECD should be included in the differential diagnosis of CDI and hypothalamic-pituitary dysfunction. Evaluation with MRI brain, TSH, free T4, prolactin, testosterone (males), LH, FSH, morning serum cortisol, and urine osmolality is warranted for all patients with ECD. Endocrinologists need to participate in the multidisciplinary team for diagnosis and treatment of ECD.
METHODS: We retrospectively reviewed the medical records of patients evaluated at Mayo Clinic from January 1990 to June 2014. A tissue biopsy reviewed by pathologists at Mayo Clinic was necessary for inclusion in the study. In all cases, the diagnosis of ECD was confirmed using clinical criteria in conjunction with histopathologic findings. Clinical data such as patient characteristics and disease presentation, laboratory, and imaging data were collected.
RESULTS: Fifty-five patients with confirmed ECD were included in our study. The median age at diagnosis was 55 years (range, 30-80), while the median time of onset of symptoms prior to diagnosis was 24 months (range, 1-275). There was a male predilection with a male to female ratio of 1.5:1. Bone pain was the most common presenting symptom (42%) followed by polyuria/polydipsia (22%). Imaging revealed involvement of the skeletal system in 44/55 (80%) of the patients, kidneys 29/52 (56%), pituitary/hypothalamus in 12/40 (30%), and adrenal glands in 9/52 (17%). Central diabetes insipidus (CDI) was confirmed in 14/44 (32%) of patients. Fifteen patients out of 48 checked had primary hypothyroidism (31%) and 4/48 (8%) had secondary hypothyroidism. Four patients had secondary adrenal insufficiency (17%) and 2/24 had primary adrenal insufficiency (8%). Central hypogonadism was found in 15/20 (75%) of patients, whereas 2/20 (10%) had primary hypogonadism. Growth hormone (GH) deficiency was found in 5/16 (31%) patients and 3/18 (17%) patients had hyperprolactinemia.
DISCUSSION: This is the largest case-series of patients with ECD. ECD is an extremely rare diagnosis as exemplified in our retrospective analysis. Other than skeletal involvement associated with bone pain, the non-skeletal endocrine manifestations seen in patients with ECD include CDI, hypothyroidism, adrenal insufficiency, hypogonadism, GH deficiency, and hyperprolactinemia.
CONCLUSION: We suggest that ECD should be included in the differential diagnosis of CDI and hypothalamic-pituitary dysfunction. Evaluation with MRI brain, TSH, free T4, prolactin, testosterone (males), LH, FSH, morning serum cortisol, and urine osmolality is warranted for all patients with ECD. Endocrinologists need to participate in the multidisciplinary team for diagnosis and treatment of ECD.
OBJECTIVE: Erdheim-Chester Disease (ECD) is a rare hematologic disease manifesting as granulomatous or fibrotic infiltration of long bones and non-skeletal tissues by non-Langerhans foamy histiocytic cells. The clinical presentation can be diverse and any organ can be affected. Our objective was to report on the endocrine manifestations of ECD.
METHODS: We retrospectively reviewed the medical records of patients evaluated at Mayo Clinic from January 1990 to June 2014. A tissue biopsy reviewed by pathologists at Mayo Clinic was necessary for inclusion in the study. In all cases, the diagnosis of ECD was confirmed using clinical criteria in conjunction with histopathologic findings. Clinical data such as patient characteristics and disease presentation, laboratory, and imaging data were collected.
RESULTS: Fifty-five patients with confirmed ECD were included in our study. The median age at diagnosis was 55 years (range, 30-80), while the median time of onset of symptoms prior to diagnosis was 24 months (range, 1-275). There was a male predilection with a male to female ratio of 1.5:1. Bone pain was the most common presenting symptom (42%) followed by polyuria/polydipsia (22%). Imaging revealed involvement of the skeletal system in 44/55 (80%) of the patients, kidneys 29/52 (56%), pituitary/hypothalamus in 12/40 (30%), and adrenal glands in 9/52 (17%). Central diabetes insipidus (CDI) was confirmed in 14/44 (32%) of patients. Fifteen patients out of 48 checked had primary hypothyroidism (31%) and 4/48 (8%) had secondary hypothyroidism. Four patients had secondary adrenal insufficiency (17%) and 2/24 had primary adrenal insufficiency (8%). Central hypogonadism was found in 15/20 (75%) of patients, whereas 2/20 (10%) had primary hypogonadism. Growth hormone (GH) deficiency was found in 5/16 (31%) patients and 3/18 (17%) patients had hyperprolactinemia.
DISCUSSION: This is the largest case-series of patients with ECD. ECD is an extremely rare diagnosis as exemplified in our retrospective analysis. Other than skeletal involvement associated with bone pain, the non-skeletal endocrine manifestations seen in patients with ECD include CDI, hypothyroidism, adrenal insufficiency, hypogonadism, GH deficiency, and hyperprolactinemia.
CONCLUSION: We suggest that ECD should be included in the differential diagnosis of CDI and hypothalamic-pituitary dysfunction. Evaluation with MRI brain, TSH, free T4, prolactin, testosterone (males), LH, FSH, morning serum cortisol, and urine osmolality is warranted for all patients with ECD. Endocrinologists need to participate in the multidisciplinary team for diagnosis and treatment of ECD.
METHODS: We retrospectively reviewed the medical records of patients evaluated at Mayo Clinic from January 1990 to June 2014. A tissue biopsy reviewed by pathologists at Mayo Clinic was necessary for inclusion in the study. In all cases, the diagnosis of ECD was confirmed using clinical criteria in conjunction with histopathologic findings. Clinical data such as patient characteristics and disease presentation, laboratory, and imaging data were collected.
RESULTS: Fifty-five patients with confirmed ECD were included in our study. The median age at diagnosis was 55 years (range, 30-80), while the median time of onset of symptoms prior to diagnosis was 24 months (range, 1-275). There was a male predilection with a male to female ratio of 1.5:1. Bone pain was the most common presenting symptom (42%) followed by polyuria/polydipsia (22%). Imaging revealed involvement of the skeletal system in 44/55 (80%) of the patients, kidneys 29/52 (56%), pituitary/hypothalamus in 12/40 (30%), and adrenal glands in 9/52 (17%). Central diabetes insipidus (CDI) was confirmed in 14/44 (32%) of patients. Fifteen patients out of 48 checked had primary hypothyroidism (31%) and 4/48 (8%) had secondary hypothyroidism. Four patients had secondary adrenal insufficiency (17%) and 2/24 had primary adrenal insufficiency (8%). Central hypogonadism was found in 15/20 (75%) of patients, whereas 2/20 (10%) had primary hypogonadism. Growth hormone (GH) deficiency was found in 5/16 (31%) patients and 3/18 (17%) patients had hyperprolactinemia.
DISCUSSION: This is the largest case-series of patients with ECD. ECD is an extremely rare diagnosis as exemplified in our retrospective analysis. Other than skeletal involvement associated with bone pain, the non-skeletal endocrine manifestations seen in patients with ECD include CDI, hypothyroidism, adrenal insufficiency, hypogonadism, GH deficiency, and hyperprolactinemia.
CONCLUSION: We suggest that ECD should be included in the differential diagnosis of CDI and hypothalamic-pituitary dysfunction. Evaluation with MRI brain, TSH, free T4, prolactin, testosterone (males), LH, FSH, morning serum cortisol, and urine osmolality is warranted for all patients with ECD. Endocrinologists need to participate in the multidisciplinary team for diagnosis and treatment of ECD.
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