Paget’s disease: clinical update

2011 ◽  
Vol 152 (33) ◽  
pp. 1337-1346
Author(s):  
Judit Donáth ◽  
Gyula Poór
Keyword(s):  
Alkaline Phosphatase ◽  
Serum Alkaline Phosphatase ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Etiologic Role ◽  
Osteoblast Activity ◽  
Chronic Disorder ◽  
Abnormal Increase ◽  
Osteoclast Function ◽  
High Level

Paget’s disease is a chronic disorder of bone remodeling, characterized by an abnormal increase of osteoclast and, hence, osteoblast activity. The imbalance of bone turnover results in the formation of unhealthy and fragile bone. It also leads to impairment of adjacent joints and to a risk of various complications. Current research focuses on the elucidation of the etiologic role viral infection and predisposing genetic factors. Paget’s disease is commonly discovered by chance; its suspicion is raised either by high level of alkaline phosphatase or by the X-ray of the pathological bone. Bisphosphonates have proven to be effective in controlling disease activity because they inhibit osteoclast function. Their use is recommended when bone-derived serum alkaline phosphatase is high and/or when disease localizations are highly suspected for the development of complications. Orv. Hetil., 2011, 152, 1337–1346.

Skeletal Blood Flow in Paget's Disease of Bone and its Response to Calcitonin Therapy

1978 ◽  
Vol 54 (1) ◽  
pp. 69-74 ◽  
Author(s):  
R. Wootton ◽  
J. Reeve ◽  
E. Spellacy ◽  
M. Tellez-Yudilevich
Keyword(s):  
Alkaline Phosphatase ◽  
Blood Flow ◽  
Serum Alkaline Phosphatase ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Short Term ◽  
Urinary Hydroxyproline ◽  
Rapid Fall ◽  
Hydroxyproline Excretion

1. Blood flow to the skeleton was measured by the 18F clearance method of Wootton, Reeve & Veall (1976) in 24 patients with untreated Paget's disease. In every patient but one, resting skeletal blood flow was increased. There was a significant positive correlation between skeletal blood flow and serum alkaline phosphatase and between skeletal blood flow and urinary total hydroxyproline excretion. 2. Fourteen patients were re-studied after they had received short-term (7 days or less) or long-term (7 weeks or more) calcitonin. Skeletal blood flow, alkaline phosphatase and urinary hydroxyproline excretion fell towards normal in every case. There was some evidence from the short-term studies that calcitonin produced a more rapid fall in skeletal blood flow than in alkaline phosphatase. 3. Glomerular filtration rate appeared to increase transiently in response to calcitonin.

scholarly journals Juvenile Paget’s disease: Report of a family with a novel missense mutation and unique radiological manifestations in a heterozygote

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
O Khalifa ◽  
K Ramzan ◽  
A S Moustafa ◽  
K AlMane ◽  
M Abdelfattah ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Bone Turnover ◽  
Skeletal Dysplasia ◽  
Serum Alkaline Phosphatase ◽  
Phenotypic Variability ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Homozygous Mutation ◽  
Markers Of Bone Turnover ◽  
Juvenile Paget’S Disease

Abstract Juvenile Paget’s disease (JPD) is a rare, generalized skeletal disorder characterized by markedly increased bone turnover secondary to enhanced osteoclastic activity. The patients with JPD develop progressive, widespread skeletal involvement and non-skeletal manifestations. Objectives To identify the characteristic molecular, biochemical, radiological, and audiological findings in three siblings with JPD associated with intrafamilial phenotypic variability. Patients and Methods A Saudi family with 3 affected siblings was recruited. Biochemical measurement of serum alkaline phosphatase and markers of bone turnover were performed. Genetic testing and sequencing of a panel of 22 known genes for skeletal dysplasia with increase bone density were performed by next generation sequencing (NGS). Radiological and audiological assessment were also performed. Results Patients showed marked elevation of serum alkaline phosphatase and markers of bone turnover. A novel homozygous mutation c.433T>G (p.Cys145Gly) in exon 3 of TNFRSF11B gene was identified in the 3 affected siblings. Both parents were heterozygous for the mutation. The heterozygote father had thickening of calvarium, a radiological manifestation of JPD. The eldest child (index case) had a unique striking distortion of the skull bones as evidenced by 3-D computed tomography of skull. He had also bilateral inner ear structural deformity and severe sensorineural hearing loss. Conclusions: JPD is a rare disorder that can be highly overlooked due to phenotypic overlap with other disorders of skeletal dysplasia. Mutations affecting cysteine residues result in the most severe JPD phenotypes. NGS is useful for early diagnosis of JPD, a prerequisite for successful treatment strategy.

scholarly journals Maladie de Paget au Sénégal : à propos de deux cas dans une population noire africaine

2016 ◽  
Vol 3 (2) ◽  
pp. 121-124
Author(s):  
Ismaïla Diédhiou ◽  
◽  
Awa-Ndao Fall ◽  
Thierno-Oumar Soko ◽  
Abdou-Rajack NDIAYE
Keyword(s):  
Alkaline Phosphatase ◽  
Physical Examination ◽  
Serum Alkaline Phosphatase ◽  
Paget’S Disease ◽  
Joint Space ◽  
Paget's Disease ◽  
Pelvic Bone ◽  
Cortical Thickening ◽  
Maladie De Paget ◽  
The Right

Mr. MD is a 72-years-old man, admitted for spontaneous, permanent, crushing type pain on the pelvis above the right hip evolving for two years, without night or morning stiffness but increasing with hearing loss, temporal and parietal headache. Physical examination showed a painful hip in active and passive mobilization. Pressure on iliac spines and lower lumbar and sacrococcygeal bones was painful. The patient showed no inflammatory syndrome. Serum calcium was normal. We noted an isolated increase in alkaline phosphatase levels to 401 IU/l. Radiographs showed bilateral heterogeneous sclerosis of the iliac bone with thickening lines and and almost disappearance of the right hip joint space. There was a marked thickening of the cortex on the femoral proximal third and thickening of the cranial vault. MRI showed cortical thickening of the right pelvic bone, a T1 hyper signal, and an intermediate T2 signal with fat/sat. This was pathognomonic of Paget's disease. The second patient is a 72-year-old man with no history, having intense pain on the right side of the lower limb. Physical examination showed no musculoskeletal deformity, but pain on palpation and mobilization of the right hip. Serum alkaline phosphatase (ALP) was raised to 4 times the normal range. Radiography showed cortical thickening of the ischial pubic branch, a heterogeneous sclerosis gypsy moth of the iliac wing, a steady narrowing of the femoral hip-spaced lines and thickening of the iliac ischial pubic. This aspect is pathognomonic of Paget’s disease, the patient underwent treatment with zoledronic acid intravenously at 5 mg. The outcome was favorable up to 10 months with reduced pain (VAS = 2/10) and normal PAL.

Paget’s disease of bone

2013 ◽  
Author(s):  
Stuart H. Ralston
Keyword(s):  
Bone Turnover ◽  
Viral Infections ◽  
Serum Alkaline Phosphatase ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Bisphosphonate Therapy ◽  
Paget’S Disease Of Bone ◽  
Bone Architecture ◽  
Paget's Disease Of Bone ◽  
Disease Extent

Paget's disease of bone (PDB) affects up to 1% of people of European origin aged 55 years and above. It is characterized by focal abnormalities of bone remodelling which disrupt normal bone architecture, leading to expansion and reduced mechanical strength of affected bones. This can lead to various complications including deformity, fracture, nerve compression syndromes, and osteoarthritis, although many patients are asymptomatic. Genetic factors play a key role in the pathogenesis of PDB. This seems to be mediated by a combination of rare genetic variants which cause familial forms of the disease and common variants which increase susceptibility to environmental triggers. Environmental factors which have been suggested to predispose to PDB include viral infections, calcium and vitamin D deficiency, and excessive mechanical loading of affected bones. The diagnosis can be made by the characteristic changes seen on radiographs, but isotope bone scans are helpful in defining disease extent. Serum alkaline phosphatase levels can be used as a measure of disease activity. Inhibitors of bone resorption are the mainstay of medical management for PDB and bisphosphonates are regarded as the treatment of choice. Bisphosphonates are highly effective at reducing bone turnover in PDB and have been found to heal osteolytic lesions, and normalize bone histology. Although bisphosphonates can improving bone pain caused by elevated bone turnover, most patients require additional therapy to deal with symptoms associated with disease complications. It is currently unclear whether bisphosphonate therapy is effective at preventing complications of PDB.

Pharmacotherapy of Paget's Disease of Bone: Focus on Zoledronic Acid

2009 ◽  
Vol 1 ◽  
pp. CMT.S1095
Author(s):  
Konstantinos Tziomalos ◽  
Vasilios G. Athyros ◽  
Asterios Karagiannis
Keyword(s):  
Zoledronic Acid ◽  
Serum Alkaline Phosphatase ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Principal Characteristic ◽  
Paget's Disease Of Bone ◽  
Osteoclastic Activity ◽  
Therapeutic Decisions ◽  
Increased Risk

Paget's disease of bone (PDB) affects 1%-3% of the population and is associated with increased risk for bone fracture and deformity. Increased osteoclastic activity is the principal characteristic of PDB. Bisphosphonates inhibit osteoclastic activity and represent the mainstay of treatment of PDB. Zoledronic acid, a potent member of this class, normalizes serum alkaline phosphatase (ALP) levels in the majority of patients with PDB and induces sustained disease remissions. It appears to be more effective than both risedronate and pamidronate. However, it is not clear whether bisphosphonates, including zoledronic acid, improve the clinical outcome of patients with PDB. Zoledronic acid was associated with increased risk for atrial fibrillation and osteonecrosis of the jaw in some studies in patients with osteoporosis and cancer, respectively, but not in patients with PDB. Until we have data on the effects of bisphosphonates on clinical outcomes in PDB such as fracture, deformity and osteosarcoma, we must base therapeutic decisions on the data regarding the effects of these agents on disease activity markers (such as serum ALP levels) and bone pain.

Plasma Calcitonin in Paget's Disease of Bone

1977 ◽  
Vol 52 (3) ◽  
pp. 329-332 ◽  
Author(s):  
J. A. Kanis ◽  
G. Heynen ◽  
R. J. Walton
Keyword(s):  
Alkaline Phosphatase ◽  
Plasma Levels ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone ◽  
Control Subjects ◽  
Plasma Alkaline Phosphatase ◽  
And Control ◽  
Age And Sex

1. Plasma levels of immunoreactive calcitonin were measured in 22 patients with untreated Paget's disease of bone and in 22 control subjects matched for age and sex. 2. No significant differences in plasma calcitonin were found between patients and control subjects, and hormone levels did not correlate significantly with activity of plasma alkaline phosphatase. 3. These results suggest that Paget's disease of bone is not due to deficient secretion of endogenous calcitonin.

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