Enfermedad de Paget de hueso esporádica. Serie de casos y revisión de la literatura / Sporadic Paget's disease of the bone. Case series and literature review

RESUMEN La enfermedad de Paget ósea es una enfermedad metabólica del hueso de etiología no esclarecida, que se caracteriza por una fase de resorción aumentada seguida por una fase de osteoformación aberrante. Es frecuente en Europa, Norteamérica, Nueva Zelanda y Australia, pero infrecuente en Asia, Medio Oriente y África. En población colombiana hay reportes de casos. Generalmente cursa asintomática y se diagnostica incidentalmente por hallazgos radiográficos o fosfatasa alcalina elevada. El uso de bifosfonatos favorece el control del recambio óseo y permite prevenir complicaciones como las fracturas. Se presenta una serie de casos en Colombia y una revisión de la literatura.

A B S T R A C T Paget's disease of the bone is a metabolic bone disease of unknown origin, and is characterised by an increased phase of resorption, followed by an aberrant osteoformation phase. It is common in Europe, North America, New Zealand, and Australia, but infrequent in Asia, the Middle East, Africa, and in the Colombian population there are case reports. It is usually asymptomatic and is diagnosed incidentally by radiographic findings or an elevated alkaline phosphatase. The use of bisphosphonates favours the control of bone turnover and prevents complications such as fractures. A series of cases in Colombia is presented, along with a review of the literature.

Paget's Disease of Bone Affecting Peripheral Limb: Difficulties in Diagnosis: A Case Report

In terms of management of Paget's disease of bone (PDB), early diagnosis and proper management achieving remission is essential with lifelong specialist follow-up. We present the case of a 40-year-old woman with PDB affecting mainly the distal extremities (ankle and wrist). The patient visited our hospital in 2012 with heel pain. Plain radiography revealed osteoporosis, and a bone scan revealed hot uptake. Initial laboratory investigations showed normal serum calcium, 25-hydroxy-vitamin D, and parathyroid hormone levels; however, osteocalcin, C-terminal telopeptide of type I collagen, and bone alkaline phosphatase levels were elevated. A bone mineral density scan showed T- and Z-scores of −2.5 and −2.7, respectively, and bisphosphonate treatment was initiated. Biopsy performed on the calcaneal lateral wall revealed inconclusive findings. Follow-up biopsy on the left distal radius was performed 7 years later to investigate wrist pain, and this examination led to a final diagnosis as PDB. We suggest inconclusive biopsy result during the early phase of PDB and highly recommend follow-up evaluation in osteoporosis with atypical behavior.

Diagnosis and management of paget's disease of bone - series of 8 cases / Diagnóstico e manejo da doença de paget óssea - série de 8 casos

ABSTRACT Paget's disease of bone is a chronic condition characterized by focal abnormalities of absorption and formation of bone, and it may lead to anatomical deformities, pain, fractures, and malignant transformation. It is common in the UK, Australia, New Zealand, and North America and has a strong hereditary component, affecting first- to third-degree relatives. The etiology remains unclear and treatment is based on control of the disease with bisphosphonates, with the aim of relieving symptoms and correcting laboratory abnormalities. Surgical treatment may also be necessary to correct deformities or treat pathological fractures. This study evaluated the management and course of 8 patients with Paget's disease of bone, followed in the Orthopedic Clinic of this hospital. Among these patients, 1 had concomitant advanced prostate carcinoma, highlighting the association between Paget's disease and secondary bone diseases that can affect the differential diagnosis. Level of evidence IV, Study type: Case Series.

RESUMO A doença de Paget Óssea é uma afecção crônica, caracterizada por distúrbio focal da absorção e formação ósseas, podendo levar a deformidades anatômicas, dor, fraturas e malignização das lesões. É frequente no Reino Unido, Austrália, Nova Zelândia e América do Norte. Mantém forte relação de incidência com parentes de primeiro a terceiro graus. Sua etiologia ainda permanece incerta e o tratamento se baseia no controle da doença, com uso de bisfosfonados, visando melhora dos sintomas e das alterações laboratoriais. O tratamento cirúrgico também pode ser necessário, para correção de deformidades ou para tratamento de fraturas. Este estudo compilou oito pacientes em acompanhamento pela doença de Paget Óssea, no Ambulatório de Ortopedia deste hospital, acerca do tratamento realizado e como evoluíram. Dentre os pacientes acompanhados, houve um caso de carcinoma de próstata concomitante ao Paget, chamando atenção para outras patologias ósseas que são diagnósticos diferenciais ou coexistem com a doença. Nível de evidência IV, Tipo de Estudo: Série de Casos.

Paget's Disease: Skeletal Manifestations and Effect of Bisphosphonates

BACKGROUND: Paget's disease of bone leads to change in the shape and size of the bone and results in reduced bone strength, leading to the complications of deformity, arthritis, and fracture. Due to unknown reasons, Paget's disease is rare in Asian descendants. We report the cases of Paget's disease who visited our institute for 15 years and reviewed the literatures. METHODS: We retrospectively reviewed the medical records and radiograms of 8 patients (6 female and 2 male) who were diagnosed as Paget's disease of bone. Diagnosis was confirmed by typical radiological feature in the involved skeletons and/or pathologic findings. RESULTS: Pelvis, skull and spine were three most frequently involved bones. All involved bones in our cases showed changes in shape and trabecular pattern which resulted in bowing of lower extremity, secondary osteoarthritis, compression fracture of spine and enlargement of skull. Mean follow time was 4.71 years and all patient were treated bisphosphonate (BP). Use of BP controlled the level of serum alkaline phosphatase level effectively. CONCLUSIONS: We have reviewed eight patients who were previously diagnosed as Paget's disease of bone in our institute. We could identify typical radiologic and clinical findings such as bowing deformity of long bone, secondary osteoarthritis, compression fracture and osteomyelitis of mandible that deteriorated the quality of their living.

Ivory vertebra: imaging findings in different diagnoses / Vértebras em marfim: achados de imagem nos diferentes diagnósticos

Abstract Low back pain is often managed at all levels of healthcare. In general, diagnostic investigation begins with radiography of the lumbar spine. In addition to the most common findings, radiologists can identify increased density of a vertebral body, referred to as ivory vertebra. The objective of this study was to describe the main diseases that can present with this radiologic sign, such as Hodgkin lymphoma, Paget's disease, metastatic prostate cancer, breast cancer, and osteomyelitis. It is extremely important that radiologists be aware of this finding in order to inform the requesting physician of the possible etiologies, given that it can be the initial radiologic presentation for these diseases.

Resumo Pacientes com dor lombar são frequentemente atendidos em todos os níveis de saúde. O início da investigação diagnóstica, de modo geral, se dá com a realização das radiografias da coluna lombar. Além dos achados mais frequentes, os profissionais podem encontrar uma vértebra de densidade muito aumentada em comparação com as demais, chamada de vértebra em marfim. O objetivo deste trabalho é descrever as principais doenças que podem apresentar, entre suas características radiológicas, este tipo de vértebra, como linfoma de Hodgkin, doença de Paget, metástases de neoplasias prostáticas e de mama, além da osteomielite. Por ser, em alguns casos, a apresentação radiológica inicial dessas doenças, é de suma importância que o radiologista tenha conhecimento deste achado e oriente o profissional solicitante quanto às suas possíveis causas.

Diagnosis and treatment of 6 cases with Paget′s disease of bone / 中华内分泌代谢杂志

Six cases of Paget′s disease of bone, including 5 males and 1 female, aged (57. 7 ±11. 8) years old, were recruited. Mean duration of disease was (7. 5±6. 5) years. Clinical manifestations were bone pain and bone deformity. The lesions mainly reside in the pelvis and femur. X-ray film showed typical lesion of Paget′s disease of bone, such as impaired bone trabecular structure with coarseness and disorder, cortical thickening, medullary cavity narrowing and skeletal deformation. Bone scan revealed abnormal radionuclide concentration in the involved bone. Serum alkaline phosphatase ( ALP) in 6 patients was increased ( median 235 U/ L). 5 patients received zoledronic acid sodium intravenous infusion therapy. Bone pain was relieved obviously in 5 patients after treatment for 2-3 months. Physical activity was greatly improved, and serum ALP levels significantly decreased.

Metástase de carcinoma folicular da tireoide em portador de doença de Paget óssea: relato de caso / Metastasis of follicular thyroid carcinoma in bearer Paget´s disease of bone: case report

Introdução: o carcinoma folicular da tireoide pode evoluir com metástases a distância em até 30% dos casos. A doença de Paget óssea - ou osteíte deformante, por sua vez, caracteriza-se por alterações na estrutura óssea com possibilidade, inclusive, de desenvolvimento neoplásico associado. Objetivo: relatar a associação de metástase óssea de carcinoma folicular da tireoide em portador de doença de Paget óssea com alterações prévias no sítio metastático. Relato de caso: homem de 87 anos, portador de doença de Paget óssea, evoluiu com intensificação da dor em pelve com aumento de volume local. Exames de imagem demonstraram tumor com biópsia sugestiva de carcinoma tireóideo metastático. Diagnosticado, então, nódulo em glândula tireoide, com 1,7 cm, e com confirmação de carcinoma folicular após tireoidectomia total (estágio pT1pN0). O paciente foi submetido a radioiodoterapia e radioterapia externa com persistência neoplásica. Encontrase vivo, passados 41 meses da tireoidectomia. Conclusão: o carcinoma folicular da tireoide, mesmo como neoplasia bem diferenciada, não deve ser subestimado especialmente em indivíduos com idade avançada. A concomitância de doença de Paget óssea com lesões metastáticas é rara, mas não deve ser descartada e seu diagnóstico dependerá de biópsias incisionais.

Introduction: Follicular thyroid carcinoma may evolve with distant metastases in 30% of cases. Paget’s disease of bone (osteitis deformans), in turn, is characterized by changes in bone structure with the possibility of tumor development association. Objective: To report the association of bone metastasis of follicular thyroid carcinoma in a patient with Paget’s disease with previous changes in bone metastatic site. Case report: An 87 years old man, with Paget’s disease of bone, developed increased pain in the pelvis with local volume increase. Imaging studies demonstrated a tumor with biopsy suggestive of metastatic thyroid carcinoma. It was diagnosed, then, a nodule in the thyroid gland, with 1.7 cm, and with confirmation of follicular carcinoma after total thyroidectomy (stage pT1pN0). The patient underwent radioiodine and external radiotherapy with persistence neoplastic. He is alive 41 months after thyroidectomy. Conclusion: follicular thyroid carcinoma, even as well-differentiated tumor, should not be underestimated especially in individuals with advanced age. Concomitant Paget’s disease of bone with metastatic lesions is rare, but should not be discarded and its diagnosis depends on biopsy specimen.

Intravenous Zoledronate for a Patient with Paget's Disease

Paget's disease (PD) of bone is characterized by increase of bone resorption by atypical osteoclasts, followed by rapid new bone formation resulting in a disorganized mosaic bone. Although the pathophysiology is not fully understood, bisphosphonate, which is a potent anti-resorptive agent for treatment of osteoporosis, have been the most effective agents available for the treatment of PD. We report a case of PD of bone in a 49-year-old woman patient, who was treated with intravenous zoledronate.

Prevalence of vitamin D deficiency is higher in patients with Paget's disease of bone compared with age-matched controls / Deficiência de vitamina D é maior em pacientes com doença de Paget óssea comparada a controles pareados por idade

OBJECTIVE: To investigate if vitamin D deficiency is more prevalent in patients with Paget's disease of bone (PDB) than in age-matched controls. SUBJECTS AND METHODS: We measured serum 25-OHD in 28 untreated patients with PDB and two control groups: 284 elderly men from an ongoing cohort from our department, and 151 postmenopausal women seen in our outpatient clinic for routine medical evaluation. RESULTS: The mean ± SD serum 25-OHD was significantly lower in subjects with PDB (23.76 ± 6.29 ng/mL) than in the control groups of elderly men (27.86 ± 13.52 ng/mL) and postmenopausal women (30.30 ± 9.59 ng/mL), p = 0.015. The prevalence of vitamin D deficiency considering a cut-off point of serum 25-OHD < 30 ng/mL was 85.7% in patients with PDB, and in elderly men and postmenopausal women it was 66.7 % and 54.3%, respectively (p < 0.001). CONCLUSION: These results suggest a high prevalence of hypovitaminosis D in patients with Paget's disease living in the tropics.

OBJETIVO: Investigar se a deficiência de vitamina D é mais prevalente nos pacientes com doença de Paget óssea (DPO) do que em controles equiparados pela idade. SUJEITOS E MÉTODOS: Neste estudo retrospectivo avaliamos a 25-OHD em 28 pacientes não tratados com DPO e dois grupos controle: 284 homens idosos de uma coorte de nosso departamento e 151 mulheres na pós-menopausa atendidas em nosso ambulatório para avaliação médica de rotina. RESULTADOS: A média ± DP da 25-OHD foi significativamente menor em indivíduos com DPO (23,76 ± 6,29 ng/mL) do que nos grupos controle de homens idosos (27,86 ± 13,52 ng/mL) e de mulheres na pós-menopausa (30,30 ± 9,59 ng/mL), p = 0,015. A prevalência de deficiência de vitamina D, considerando um ponto de corte < 30 ng/mL, foi de 85,7% em pacientes com DPO e, em homens idosos e mulheres na pós-menopausa, foi de 66,7% e 54,3%, respectivamente (p < 0,001). CONCLUSÃO: Esses resultados sugerem uma alta prevalência de hipovitaminose D em pacientes com DPO nos trópicos.

Manifestações craniofaciais da Doença de Paget - relato de caso / Manifestações craniofaciais da Doença de Paget - relato de caso Craniofacial manifestations of Paget's disease - case report

As lesões fibroósseas benignas do complexo craniofacial são representadas por uma variedade de processos caracterizados por calcificações ununsuais de uma ou múltiplas regiões do organismo. Dentre essas lesões, a Doença de Paget do osso constitui-se como uma patologia, que ocorre em três fases do processo de formação óssea, levando normalmente à perda de características morfo-funcionais de ossos longos e do complexo crânio-facial. Neste trabalho, relata-se o caso de um paciente com 56 anos de idade, atendido no serviço de Cirurgia e Traumatologia Buco-Maxilo-Facial do Hospital Santa Isabel, João Pessoa-PB, portador da doença de Paget do Osso com repercussões em todo o esqueleto. Além disso, são discutidos os aspectos históricos, a etiopatogenia e as complicações craniofaciais que podem advir dessa patologia.

Fibro osseous lesions of the craniofacial complex are represented by a variety of processes characterized by ununsual calcifications of one or multiple regions of the body. Among these lesions, Paget's disease of bone, is a condition that occurs in three stages of bone formation, typically leading to loss of morphofunctional and long bones of the craniofacial complex. In this paper, we report the case of a 56-years-old malepatient, seen at theSanta IsabelHospital, Maxillo-Facial Surgery Center , JoãoPessoa-PB, presenting Paget's disease of bone with repercussions throughout the skeleton. In addition, we discuss the historical aspects, pathogenesis andcraniofacial complications that can appear in this pathology.

Doença de Paget com acometimento sacral: relato de caso / Paget's disease with sacral involvement: a case report

Os autores relatam o caso de um paciente do sexo masculino, 71 anos de idade, com diagnóstico de doença de Paget óssea sacral. Foi realizado estudo com radiografia, cintilografia, tomografia computadorizada e ressonância magnética, e o diagnóstico foi confirmado por análise histopatológica. O paciente evoluiu com boa resposta ao uso de ibandronato 150 mg, mensalmente, com redução significativa dos marcadores bioquímicos da doença.

The authors report a case of a 71-year-old male patient diagnosed with Paget's disease of sacrum. Imaging study was performed with radiography, scintigraphy, computed tomography and magnetic resonance imaging, and the diagnosis was confirmed by biopsy. The patient progressed with a good response to monthly treatment with ibandronate 150 mg, presenting a significant reduction in biochemical markers of disease.

Degeneração sarcomatosa de doença de Paget do calcâneo: relato de caso / Sarcomatous degeneration of Paget's disease in the calcaneus: a case report

A degeneração maligna das lesões da doença de Paget é rara (cerca de 1% dos casos), sendo de mau prognóstico apesar do tratamento. Relatamos o caso de um paciente de 82 anos de idade, portador de doença de Paget há vários anos, em que se identificaram, nos exames de imagem, características de degeneração maligna no calcâneo, com anatomopatológico evidenciando degeneração sarcomatosa do osso.

Neoplastic degeneration in Paget's disease is a rare complication (approximately 1% of cases) and, despite the treatment, presents a poor prognosis. The authors report a case of a male, 82-year-old patient with long standing Paget's disease who presented imaging findings of malignant degeneration in the calcaneus histopathologically diagnosed as sarcomatous degeneration.

Doença de Paget óssea em paciente jovem: relato de caso / Paget's disease of bone in young patient: a case report

Objetivo: Relatar o caso de um paciente de 22 anos com Doença de Paget óssea. Relato do caso: homem de 22 anos, atendido na Clínica Odontológica da UFPA, referindo a perda de elementos dentais e com sinaisfísicos característicos; solicitados exames laboratoriais, histopatológico e imaginológicos, que confirmaram a suspeita de um caso raro de Doença de Paget óssea em um paciente jovem . Consideraçõesfinais: o caso relatado é considerado raro em razão do paciente acometido pela doença apresentar idade inferior à faixa etária comumente descrita na literatura.

Objective: to report an uncommon case of a 22 years old patient affected by Paget´s disease of bone. Case Report: a 22 years old man, that reported the loss of dental elements, was evaluated at the UFPA´s Dental Clinic showing typical physical signs that made the staff responsible for his care request laboratory, imaging and histopathology tests, which confirmed the suspicion that this was a rare case of Paget´s disease of bone in a young patient. Final considerations: the case reported is considered uncommon due to the fact that the patient´s age was below that the age group reported in the literature as the most affected by this disease.

Doença de Paget do complexo crânio - maxilo - facial: revisão crítica da literatura / Paget's Disease of the craniomaxillofacial complex: a critical literature review

As lesões fibro-ósseas fazem parte de um grupo heterogêneo composto por lesões de desenvolvimento, processos displásicos e reativos bem como neoplasias. A doença de Paget é uma alteração esquelético idiopática crônica que consiste na alteração da atividade osteoclástica de um ou mais grupos de ossos, que desencadeia uma formação óssea desordenada, gerando a hipertrofia óssea, sendo mais freqüente nos ossos do crânio e coluna vertebral. Possui maior prevalência em indivíduos da terceira idade, de etiologia ainda desconhecida, sendo descoberta incidentalmente, por exames radiológicos, devido ao aumento da taxa de hidroxiprolina na urina ou o achado de níveis séricos de fosfatase alcalina elevados. O espectro clínico da doença de Paget é muito variável, dependendo dos locais acometidos, do grau das deformidades e da intensidade da atividade metabólica. Pacientes com dor ou deformidades ósseas devem ser investigados quanto à possibilidade de doença de Paget devido a sua pouca especificidade. Neste trabalho, os autores produziram a revista de literatura, enfocando os aspectos clínicos, imaginológicos, laboratoriais, histopatológicos e tratamento da doença de Paget, enfatizando a divulgação desta afecção que, rotineiramente, se apresenta com sinais subclínicos.

Doença de Paget - enfoque atualizado com ênfase na elaboração de um correto diagnóstico / Paget's disese - updated focus emphasizing the development of a correct dignosis

Objetivo: a Doença de Paget, uma desordem focal da remodelação óssea. é caracterizada por uma excessiva reabsorção seguida de intensa neoformação do osso afetado, apresentando um importante componente genético com evidências de heterogeneidade. De achado geralmente ocasional, típica da idade adulta e de tratamento variável. a doença é capaz de afetar vários ossos, simultaneamente. e provocar profundas deformidades, necessitando, portanto, de novos estudos com o intuito de esclarecer o seu diagnóstico, uma vez que os sintomas nem sempre são elucidativos. Assim, o presente trabalhC? objetivou realizar um estudo de atualização da etiologia e dos aspectos clínicos da doença. com afinalidade defomecerdados que subsidiem a escolha dos métodos adequados para a realização de um correto diagnóstico. Método: procedeu-se a uma extensa busca na Intemet e na base de dados intemacionais Medline e LlLACS, abrangendo os periódicos científicos publicados no período 2000 a 2008. dos quais foram selecionados, para revisão bibliográfica, aqueles mais importantes e de maior rigor científico acerca desta doença. Livros publicados no mesmo período também foram consultados. Conclusões: o diagnóstico, geralmente, encontra-se alicerçado nos aspectos clínicos, radiográficos, bioquímicos, genéticos e histológicos, sendo os métodos por imagem os de mais fácil obtenção, com ênfase para a radiografia convencional, em razão do baixo custo e de sua especificidade, e para a cintilografia de corpo inteiro como método de escolha para rastreamento de lesões suspeitas. devido a sI/a alta sensibilidade.

Objective: The Paget's disease, a disorder of focal bone remodeling is characterized by an excessive absorption followed by intense neoformation of the affected bone, presenting an important genetic component wifh evidence of heterogeneity. Usually found occasionally, typical of adulthood and variable treatment, the disease is able to affect several bones, simultaneously, causing deep deformities, requiring, therefore, further studies in order to clarify the diagnosis, since the symptoms are not always clear Therefore, this study aimed to update the etiology and clinical aspects of the disease, in order to provide data that subsidize the choice of methods for the establishment of a correct diagnosis. Method: There was research on the World Wide Web and the online data bases Medline and LILACS, coverillg journi published from 2000 to 2008, of which were selected for review the ones of most importance arigorous about this disease. Books published in the same period were also consulted. Conclusions: The diagnosis, generally, is based on clinical, radiographic, biochemical, genetic and histological aspects and the methods of image are easier to obtain, with emphasis on conventional radiography because low cost and its specificity, and the whole body scintigraphy as a method of choice for tracking suspicious lesions, due to its high sensitivity.

Clinical analysis of 7 patients with Paget's disease of bone / 中华内分泌代谢杂志

Clinical and imageological characteristics of Paget's disease of bone in 7 patients who were treated in our hospital from 1991 to 2007 were analyzed. The data showed (1) 6 patients had the symptoms of bone pain and bone deformity, with more long bones involved; (2) Serum alkaline phosphatase was over normal range; (3) Imageology showed that osteoclasia was usually combined with bone sclerosis; (4) All the patients were treated with bisphosphonates; (5) 2 patients with serious bone deformity were treated with orthomorphia. Paget's disease of bone is a kind of metabolic bone disease with the characteristics of osteoclasia combined with bone sclerosis. The main features are bone pain and bone abnormality. Bisphosphonates are the first choice of drugs. Patients with serious bone deformity should be treated with orthomorphia.

Juvenile Paget's Disease with Paranasal Sinus Aplasia

Juvenile Paget's disease (JPD) is a rare skeletal disorder that's characterized by bone demineralization and elevated levels of serum alkaline phosphatase. JPD involves the paranasal sinuses in extremely rare cases. We report here on a 25-month-old Asian male who was diagnosed of JPD associated with aplasia of the paranasal sinuses, but not the ethmoid sinuses. The patient was successfully treated by surgery and we undertook no medical intervention. This appears to be the first reported case of JPD associated with bilateral paranasal sinus aplasia.

Osteitis deformans / 中华骨科杂志

Objective To investigate the clinical manifestation and diagnosis of osteitis deformans. Methods Three male patients with characteristic manifestations of osteitis deformans were reviewed in this study. The ages of the patients were 51, 49 and 43 respectively. Two patients with pelvic lesions on X ray films presented symptomatic pain and malaise localized in hip, one complained of tibial bowing deformity. The typical radiographic characteristics were bone enlarged size, increased bone mineral density with uneven distribution; the bone trabeculae were usually coarse and arrayed irregularly like a grid. All patients underwent the diagnostic biopsy. Under microscopic observation, the bone structures were arranged disorderly, the trabeculae were thickened and enriched with osteoclasts and osteoblasts, irregular blue cement line were also seen in thickened trabeculae, the bone marrow were replaced by the fibrovascular connective tissue. All patients were given calcitonin and diphosphonates as medical treament. Results In the follow up period of an average of 16 months(range 3-26 months), one patients had pain relief at lesioned hip but functional limitation remained, the others did not have any sign of malignant progression. The serum alkaline decreased dramatically and the involved bone did not present with deteriorated change. They were working as usual. Conclusion Osteitis deformans is a disorder of bone architecture resulting from disturbance in the rate of bone turnover; typical radiographic and pathologic feature is the important points for definite diagnosis of osteitis deformans.