Choroba pageta kości
Epidemiologia

Choroba Pageta kości (PDB) jest drugim najczęstszym metabolicznym schorzeniem kości po osteoporozie, z częstością występowania od 1,5% do 8,3% w populacji ogólnej, rosnącą znacząco z wiekiem, szczególnie po 50. roku życia, osiągając do 10% u osób powyżej 80 lat. Występuje częściej u mężczyzn (stosunek 1,5-1,8:1) i wykazuje silny komponent genetyczny, z dziedziczeniem autosomalnym dominującym oraz mutacjami w genie SQSTM1 (np. P392L). Choroba ma wyraźne zróżnicowanie geograficzne, najczęściej diagnozowana jest w Wielkiej Brytanii (3-5% populacji powyżej 55 lat), Australii, Nowej Zelandii i Ameryce Północnej, a rzadziej w Azji i Afryce. W ostatnich dekadach obserwuje się istotny spadek częstości występowania i nasilenia objawów, co może być związane ze zmianami czynników środowiskowych, w tym programami szczepień i zmianami demograficznymi.

Epidemiologia choroby Pageta kości

Choroba Pageta kości (PDB, ang. Paget’s disease of bone) jest drugim najczęstszym metabolicznym schorzeniem kości po osteoporozie. Globalna częstość występowania choroby waha się od 1,5% do 8,3% w populacji ogólnej, a jej występowanie znacząco wzrasta wraz z wiekiem12. Choroba rzadko występuje u osób poniżej 40 roku życia, a jej częstość diagnozowania podwaja się w każdej kolejnej dekadzie po 50 roku życia34. U osób powyżej 80 roku życia częstość występowania może sięgać nawet 10% populacji56.

Zróżnicowanie geograficzne

Choroba Pageta kości wykazuje wyraźne zróżnicowanie geograficzne. Najwyższą częstość występowania odnotowuje się wśród Europejczyków mieszkających w Wielkiej Brytanii, a następnie w Australii, Nowej Zelandii, Ameryce Północnej, Francji, Niemczech, Hiszpanii i Włoszech1. W Wielkiej Brytanii występowanie choroby szacuje się na 3-5% populacji powyżej 55 roku życia, przy czym najwyższe wskaźniki odnotowano w północno-zachodniej Anglii, szczególnie w miastach Lancaster, Preston i Bolton, gdzie odsetek ten może sięgać nawet 8,3%78.

Choroba jest stosunkowo rzadka wśród Skandynawów, Afrykanów, Azjatów i nieeuropejskich imigrantów mieszkających w Europie19. Badania w Japonii wykazały częstość występowania zaledwie 2,8 przypadków na milion mieszkańców10, podczas gdy na Bliskim Wschodzie wśród Arabów w południowym Izraelu stwierdzono częstość występowania na poziomie 1%, porównywalną do południowej Europy1.

W Stanach Zjednoczonych chorobę Pageta kości stwierdza się u około 1-3 milionów osób, co stanowi około 1-2% populacji ogólnej1112. Występowanie choroby w USA wykazuje również zróżnicowanie regionalne – jest najmniej powszechna w południowych stanach, a najbardziej w północno-wschodnich regionach kraju5.

Zmniejszanie się częstości występowania

W ciągu ostatnich kilku dekad zaobserwowano znaczący spadek zarówno częstości występowania, jak i nasilenia objawów choroby Pageta kości1314. Badania prowadzone w Wielkiej Brytanii wykazały, że w porównaniu z rokiem 1999, do 2015 roku częstość diagnozowania choroby Pageta zmniejszyła się o ponad 60% do zaledwie ponad jednego przypadku na 50 000 osób rocznie14. Podobne trendy zaobserwowano w Nowej Zelandii, gdzie stwierdzono około 50% redukcję częstości występowania choroby między 1973 a 2002 rokiem15.

Ten spadek częstości występowania był obserwowany we wszystkich częściach świata, gdzie choroba wcześniej była powszechna1617. Przyczyny tego zjawiska nie są do końca wyjaśnione, ale mogą być związane ze zmianami czynników środowiskowych, takich jak programy szczepień przeciwko wirusom (w tym odrze), zmiany w systemach kontroli weterynaryjnej hodowli zwierząt, czy też zmiany składu etnicznego populacji w wyniku migracji1318.

Różnice płciowe i wiekowe

Choroba Pageta kości dotyka częściej mężczyzn niż kobiety, przy czym stosunek zachorowań mężczyzn do kobiet wynosi około 1,5-1,8:11910. W Wielkiej Brytanii u osób w wieku 85 lat chorobą dotkniętych jest 5,8% kobiet i 6,9% mężczyzn10.

Wyraźna jest także zależność wieku – choroba rzadko występuje u osób poniżej 40-50 roku życia, a jej częstość gwałtownie wzrasta wraz z wiekiem3. Według badań epidemiologicznych w Anglii i Walii, częstość występowania choroby u kobiet w wieku 55-59 lat wynosi 0,3 przypadku na 10 000 osobo-lat, a u mężczyzn w tym samym wieku – 0,5 przypadku na 10 000 osobo-lat. W wieku 85 lat wskaźnik ten wzrasta do 5,4 u kobiet i 7,6 u mężczyzn20.

Czynniki genetyczne i środowiskowe

Choroba Pageta kości wykazuje silny komponent genetyczny21. Około 15-40% pacjentów z chorobą Pageta ma członka rodziny z tą chorobą, a ryzyko zachorowania u krewnych pierwszego stopnia jest 7-10 razy wyższe niż w populacji ogólnej2223. Choroba jest dziedziczona w sposób autosomalny dominujący, choć nie wszystkie osoby posiadające zmutowane geny będą wykazywać objawy choroby (niepełna penetracja)22.

Badania genetyczne wykazały związek między chorobą Pageta a mutacjami w genie SQSTM1, szczególnie mutacją P392L, która zaburza szlaki sygnałowe w osteoklastach podczas aktywacji komórkowej24. Podatność na chorobę Pageta jest częściowo warunkowana dziedziczeniem wariantów genów, które powodują nadmierną regulację aktywności osteoklastów21.

Oprócz czynników genetycznych, istotną rolę odgrywają także czynniki środowiskowe. Do potencjalnych czynników wyzwalających chorobę zalicza się:

  • Infekcje wirusowe (paramyksowirusy, wirus odry, respiratory syncytial virus)2518
  • Ekspozycję na ogrzewanie drewnem w młodym wieku25
  • Ekspozycję na toksyny środowiskowe (ołów, kadm)25
  • Kontakt z bydłem26
  • Spożywanie mięsa pochodzącego od chorych zwierząt oraz częste spożywanie w młodości mózgów i innych podrobów26
  • Niedobory mineralne i witaminowe w okresie wzrostu szkieletu21

Nadzór i monitorowanie choroby

Większość pacjentów z chorobą Pageta kości jest bezobjawowa, a schorzenie często wykrywane jest przypadkowo podczas badań obrazowych lub laboratoryjnych wykonywanych z innych powodów1127. Z tego powodu choroba jest prawdopodobnie niedodiagnozowana w populacji ogólnej28.

W diagnostyce choroby Pageta kluczową rolę odgrywają:

  • Badania radiologiczne – chorobę można zwykle zdiagnozować na podstawie zdjęcia rentgenowskiego, na którym kość dotknięta chorobą Pageta wygląda na większą i gęstszą niż kość prawidłowa27
  • Badania laboratoryjne – marker z wyboru w diagnostyce to całkowita aktywność fosfatazy alkalicznej w surowicy, której poziom jest zwykle podwyższony18
  • Badania moczu – które mogą wykazać przyspieszony obrót kostny27
  • Scyntygrafia kości – szczególnie przydatna u pacjentów z wysokim ryzykiem rozwoju choroby Pageta, ze względu na wysoką czułość wykrywania29

U pacjentów z rozpoznaną chorobą Pageta kości zaleca się regularne monitorowanie poziomu fosfatazy alkalicznej co 3-12 miesięcy4. Natomiast w przypadku osób z pierwszego stopnia pokrewieństwa z chorym na chorobę Pageta, zaleca się badanie fosfatazy alkalicznej co 3 lata (po ukończeniu 50 roku życia)4.

Implikacje kliniczne i rokowanie

Choroba Pageta kości nie ma obecnie lekarstwa, ale może być skutecznie kontrolowana przez spowolnienie lub nawet zatrzymanie jej progresji11. Rokowanie dla pacjentów leczonych jest dobre, szczególnie jeśli choroba jest we wczesnym stadium1130.

Pacjenci z postacią poliostotyczną (dotykającą wielu kości) mają gorsze rokowanie niż ci z postacią monoostotyczną (dotykającą jednej kości)11. Chorobowość jest zwykle związana z złamaniami, przewlekłym bólem, deformacją kości i powikłaniami neurologicznymi11. W przypadku rozwoju zwyrodnienia mięsaka, wskaźnik przeżycia może być bardzo niski11.

Mniej niż 1% pacjentów z chorobą Pageta rozwija raka kości, ale ważne jest utrzymywanie regularnego nadzoru medycznego po diagnozie31. Wczesna diagnoza jest kluczowa dla skutecznego zarządzania chorobą, ponieważ pacjenci mają generalnie dobre rokowanie, jeśli leczenie jest wdrożone przed pojawieniem się poważnych powikłań32.

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10169728/
    Pagets disease of bone (PDB) is the second most prevalent metabolic bone disorder worldwide, with a prevalence rate of 1.5%8.3%. […] The global prevalence of PDB ranges from 1.5% to 8.3%, highest in Europeans living in the United Kingdom, followed by Australia, New Zealand, North America, France, Germany, Spain and Italy. Conversely, it appears rare among Scandinavians, Africans, Asians, and non-European immigrants living in Europe. […] Among Middle East Arabians in southern Israel revealed a 1% prevalence of PDB, comparable to southern Europe. […] The above epidemiological data confirms that there is marked geographical variation in the occurrence of PDB. But whether this is linked to genetic susceptibility of specific ethnic or racial population groups, and/or potential environmental influences like diet (mineral and vitamin deficiencies), lifestyle (tobacco smoking) exposure to the pollutants (lead), and an infection (paramyxovirus) is unclear.
  • #2 Paget’s Disease of Bone
    https://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/rheumatology/pagets-disease-of-bone/
    It is difficult to estimate the incidence of PDB because most patients are asymptomatic. The global prevalence varies from 1.5% to 8.3% depending on factors such as age, country of residence, and sex. The incidence of PDB increases in individuals over 50 years of age. The prevalence is higher in the United Kingdom, France, Germany, Australia, New Zealand, and North America. It is rare in Asia, India, and Scandinavia. PDB is slightly more prevalent in men than in women.
  • #3 Paget’s Disease: Causes, Symptoms, and Treatment | Doctor
    https://patient.info/doctor/pagets-disease-of-bone-pro
    Paget’s disease of bone (PDB) is the second most common metabolic bone condition after osteoporosis. The diagnosis of Paget’s disease is rare before age 50. The disease affects men and women, but in most series males predominate. One series found a prevalence of 3% in over 4,600 autopsies of individuals above 40 years of age. Paget’s disease occurs most commonly in people of British descent. The disease is also common in British migrants to countries like Australia, New Zealand and North America, as well as in other countries in Europe, such as in France, Germany, Spain, or Italy. There is evidence that Paget’s disease has become less common and less severe over the past quarter of a century in the UK and many other countries. One study evaluated the age- and gender-specific incidence of Paget’s disease in England and Wales in the adult population, and concluded that the disorder was more frequent among men of all ages over 55 years:
  • #4 Paget’s Disease of Bone
    https://mobile.fpnotebook.com/Rheum/Bone/PgtsDsOfBn.htm
    Prevalence (United States) […] Overall: 1-2% […] Age over 80 years: 10% […] Onset over age 50 years […] Incidence doubles every decade over age 50 years old […] Rare under age 40 years old […] Gender […] Males are slightly more likely than women to be affected (RR 1.5) […] Ethnicity and Regions […] Uncommon in Asia and Scandanavia […] Common in United States, Europe, Australia, and New Zealand […] Screening if first degree relative has Paget’s Disease […] Alkaline Phosphatase every 3 years (over age 50) […] Monitoring of diagnosed Paget’s Disease […] Alkaline Phosphatase every 3 to 12 months.
  • #5 Paget Disease: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/334607-overview
    Paget disease is estimated to affect 1 to 3 million people in the United States. Epidemiologic studies are inherently imprecise, however, because many individuals with Paget disease are asymptomatic. […] According to a 2000 study by Altman et al, the prevalence of pelvic Paget disease in the United States was 0.71% 0.18%, based on data from the National Health and Nutrition Examination Survey I (NHANES I, 1971-1975). The male-to-female ratio was 1.2:1, and the prevalence of pelvic Paget disease was the same in White persons and Black persons. […] The prevalence of pelvic Paget disease increases with age, with the highest prevalence in persons older than 65 years. A survey study suggested that the prevalence in the United States is 2.3% of the population between ages 65 and 74 years. Paget disease is estimated to occur in 1-3% of individuals older than 45-55 years and in up to 10% of persons older than 80 years. Geographically, pelvic Paget disease was least common in the southern United States and most common in the northeastern United States.
  • #6 Pagets Disease – OrthoPaedia
    https://www.orthopaedia.com/pagets-disease/
    Paget’s disease is found in approximately 3% of all people over 50 years of age in the United States, with its prevalence rising to 10% in people over 80 years of age. […] The disorder rarely presents before age 40, making its overall prevalence about 1% of the entire US population. […] Paget’s disease is approximately four times more common in people who have relatives with the condition. […] Paget’s disease is also more prevalent in countries such as England, western Europe, and the United States, and less prevalent in countries such as China, Japan, and India. […] These data suggest a genetic contribution to the risk of disease.
  • #7 Paget Disease: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/334607-overview
    The prevalence of Paget disease varies greatly in different areas of the world. The highest prevalence is in Europe (predominantly England, France, and Germany). The United States, Australia, and New Zealand have high prevalence rates because of significant populations with northern European ancestry and a large population of British immigrants. The disease is rare in Asian countries, especially China, India, and Malaysia, and in the Middle East and Africa. […] Prevalence may vary even within the same country. A prevalence of 2% in certain British cities can be contrasted with rates in Lancaster, England, which had a prevalence of 8.3%. The incidence of Paget disease in the United Kingdom has been steadily dropping in the 21st century, decreasing from 0.75 case per 10,000 person-years in 1999 to 0.20 case per 10,000 person-years in 2015.
  • #8 Sporadic Paget’s disease of the bone. Case series and literature review | Revista Colombiana de Reumatología (English Edition)
    https://www.elsevier.es/en-revista-revista-colombiana-reumatologia-english-edition–474-articulo-sporadic-paget-s-disease-bone-case-S2444440520300455
    Paget’s disease of the bone is a metabolic bone disease of unknown origin, and is characterized 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. […] Around the world, PD is the second metabolic bone disease following osteoporosis, but with a very heterogeneous geographical distribution. There is a high prevalence among Northern European populations, with the highest reported in Great Britain, in the cities of Lancaster, Preston and Bolton (35% of the population over 55 years old), in areas of migration of these populations such as Australia, New Zealand, or the United States. The estimated prevalence in Spain is of 1.1-1.6%, with a higher prevalence in the extremely isolated rural areas exhibiting high rates of endogamy, as observed in several provinces neighboring the Central Plains (Sierra de la Cabrera in Madrid, 6.4%; Vitigudino in Salamanca, 5.7%). The disease is rare in the Scandinavian countries and Asia, with a prevalence of less than 1%. It is also rare in South America; however, large case series have been reported in Argentina and Brazil, probably because of a higher white European ancestry in these countries. In Colombia the disease is rare, with an approximate frequency of one case per 1,000,000 inhabitants.
  • #9 Paget’s disease of bone – Wikipedia
    https://en.wikipedia.org/wiki/Paget%27s_disease_of_bone
    The incidence of Paget’s disease varies considerably with geographic location. Paget’s predominantly affects people of European descent, whereas people of African, Asian, or Indian descent are less commonly affected. Paget’s disease is less common in Switzerland and Scandinavia than in the rest of Western Europe. Paget’s disease is uncommon in the native populations of North and South America, Africa, Asia, and the Middle East. When an individual from these regions does develop Paget’s disease, there is typically some European ancestry present.
  • #10 Updates on Paget’s Disease of Bone
    https://www.e-enm.org/journal/view.php?number=2339
    Pagets disease of bone is a prevalent disease characterized by disorganized bone remodeling, but it is uncommon in East Asian countries. […] In Western countries, PDB is the second most common bone disease, following osteoporosis. […] It is more prevalent among people with British ancestry. […] PDB is uncommon in African Americans and Asians, particularly those from Korea, China, Japan, and India. […] A survey of orthopedic surgeons in Japan demonstrated that only 2.8/106 population were affected with PDB. […] To date, no epidemiological studies have been reported in Korea. […] In the United Kingdom (UK), 5.8% of the women and 6.9% of the men aged 85 years are diagnosed with PDB. […] However, the disease is uncommon in those aged 50 years. […] It is approximately 1.6 times more prevalent in men than that in women and is prevalent in approximately 2% of the individuals aged 55 years in the UK. […] Moreover, PDB has been less prevalent and severe over the past quarter century in the UK and other nations.
  • #11 Paget Bone Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430805/
    Paget disease is usually seen in individuals older than 50 years of age. Around the world, it is reported that the prevalence of the disease has decreased during the past 2 decades, currently estimated between 1.5% to 8.3%. It is common in Caucasians of northern European descent. Paget disease is equally common in males and females. In the US, it is said to affect 1 to 3 million people, but most of the patients are asymptomatic. The disorder is slightly more common in white males. The disorder usually presents in the fourth to fifth decade of life, but the diagnosis is often made a decade later. […] The prognosis for treated patients is good, especially if the disease is in its early stages. Paget disease of the bone has no cure, but the disorder can be controlled by slowing down or even stopping its progression. Patients with polyostotic disease have poorer outcomes than those with monostotic disease. The morbidity is usually due to fractures, chronic pain, bone deformity, and neurological complications. Once the patient develops sarcomatous degeneration, the survival rate may be very poor.
  • #12 Paget’s disease of bone: Symptoms, causes, and treatment
    https://www.medicalnewstoday.com/articles/177668
    Pagets disease is the second most common type of bone disease after osteoporosis. […] Evidence suggests that the number of people with Pagets disease has been decreasing over the last 25 years. […] Around 1 million people in the United States have Pagets disease. […] Pagets disease tends to occur in older adults as well as people from Northern Europe. […] The disorder occurs in three men to every two women with Pagets disease. […] While researchers are still exploring the causes of Pagets disease, some believe that it has links to the measles virus, as scientists have found traces of the disease in bone affected by Pagets disease. The disorder has also become less common as the rate of measles has also declined.
  • #13 Paget’s disease of bone: 1877–2023. Etiology, and management of a disease on epidemiologic transition | Medicina Clínica (English Edition)
    https://www.elsevier.es/en-revista-medicina-clinica-english-edition–462-articulo-pagets-disease-bone-18772023-etiology-S2387020623003352
    Pagets disease of bone (PDB) is characterised by the alteration, in one or several bone locations, of the equilibrium between bone formation and bone resorption. […] PDB was classically considered the second most common metabolic bone disease. However, in recent decades there has been a marked decrease in both incidence and clinical severity. […] The epidemiology of PDB has been characterised by a significant heterogeneity between different areas of the world, with a clear increase in prevalence in areas of Anglo-Saxon origin and under-representation in Asia or Africa. […] This decline has been accompanied by a delay in the presentation of the disease, which is being diagnosed later and later, and a decrease in the severity of the presentation, with less extensive skeletal involvement and lower laboratory values. […] Reduced exposure to some yet-to-be-determined environmental agent, such as changes related to veterinary livestock control, may better explain the drastic changes in the prevalence of PDB.
  • #14 The decline of Paget’s disease | Paget’s Association
    https://paget.org.uk/the-decline-of-pagets-disease/
    Research conducted in the 1970s and 1980s indicated that Pagets disease was more frequent in the UK than elsewhere in the world, and within the UK was most frequent in the North West of England. […] There have been no recent data on trends in the disease in the UK and so it remained unknown whether the disease has continued to decrease in frequency and whether it remains more common in the North West region. […] Using the primary care database we found over 3,500 new cases of Pagets disease in patients aged 18 years and over, who had been diagnosed in the past 20 years. […] One of the key findings though, was that the frequency of the disease appeared to be continuing to decrease. Compared to 1999, by 2015 the frequency of diagnosed Pagets disease had declined by over 60% to just over one in 50,000 people per year.
  • #15 Section 8, Chapter 3: Paget’s Disease : Wheeless’ Textbook of Orthopaedics
    https://www.wheelessonline.com/issls/section-8-chapter-3-pagets-disease/
    Interestingly, epidemiology of PD shows some significant changing trends in the last century. First, longitudinal studies demonstrated a decrease in the prevalence as well as the severity of PD. Cundy found an approximately 50% reduction of the prevalence of PD in New Zealand between 1973 and 2002. […] These findings were similarly echoed in Cooper et al.s paper that found a significantly steep decline in Britain between 1974 and 2004. […] The true meaning of these findings, however, is unclear. Being cross-sectional population studies, there is a risk of bias affected by changing populations during this time. With increasing world travel, the examined populations may have been more ethnically heterogenous at later time points. However, proponents of these findings suggest that changing environmental factors may explain these trends.
  • #16 Paget disease of bone An update
    https://www.racgp.org.au/afp/2012/march/paget-disease-of-bone
    Paget disease of bone is the most common metabolic bone disease after osteoporosis, affecting 24% of adults over 55 years of age. […] The disease has a peculiar geographical distribution, with the highest reported prevalence in northwest England, and is also common in Australia, New Zealand and North America, reflecting the high frequency of British ancestry in these countries. […] Studies from the United Kingdom and New Zealand suggest that the prevalence and the severity of new cases have greatly decreased in the past 25-30 years. […] The reasons for this are unclear, but may reflect altered environmental factors or an increase in immigration from regions such as Asia, where PDB is rare. […] There are no recent prevalence studies of Paget disease in Australia.
  • #17 Paget’s disease of bone | The Medical Journal of Australia
    https://www.mja.com.au/journal/2004/181/5/pagets-disease-bone
    Pagets disease of bone is common, affecting up to 4% of Australians over the age of 55 years. The incidence of the disease and the severity of newly diagnosed cases appear to be falling, for unknown reasons. […] Pagets disease predominantly affects the elderly. It is uncommon in people under the age of 55 years and is more common in males than females, with a sex ratio of 1.8 : 1. There are marked geographical differences in prevalence. The disease is most common in the United Kingdom (particularly Lancashire), followed by Australia, New Zealand and North America, in part reflecting the large number of British migrants to those countries. […] Recent studies from the United Kingdom and New Zealand suggest that the incidence of Pagets disease is falling, perhaps by as much as 50% over the past 20 years, and that the severity of newly diagnosed cases is falling. […] There are no recent prevalence studies from Australia.
  • #18 Paget’s Disease of Bone: Approach to Its Historical Origins | Reumatología Clínica
    https://reumatologiaclinica.org/en-paget39s-disease-bone-approach-its-articulo-S2173574317300011
    The reason for this irregular expression of the disease is not well known. A number of theories, including an autoimmune process, an endocrine disorder, an infectious disease and a neoplastic condition, have been proposed. The origin remains unclear, although it is evident that there is a marked familial aggregation that suggests an underlying genetic factor. […] In recent years, there has been evidence of a decrease in the incidence of the disease and of the severity of the clinical manifestations. This may be due to changes in the ethnic composition of the populations because of migration and to improved hygienic conditions introduced as public health measures (vaccination programs and reduced exposure to zoonosis). […] The diagnosis in symptomatic patients is based mainly on clinical findings, supported by laboratory tests and radiological images. There is an increase in bone formation and resorption markers. The marker of choice for diagnosis is serum total alkaline phosphatase, the level of which is usually increased.
  • #19 Paget Disease: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/334607-overview
    Research from Europe and New Zealand indicates that the prevalence of Paget disease has decreased since the 1980s but that increased incidence with age has been maintained. The estimated prevalence of Paget disease in patients aged 55 years or older has decreased to approximately 2%. […] Paget disease is not known to demonstrate a predilection for any race. Nevertheless, unusual patterns of prevalence have been noted. Paget disease is more common in males than females. The male-to-female ratio is approximately 1.8:1. […] Paget disease is distinctly rare in persons younger than 25 years and increases in frequency with increasing age. Paget disease is believed to develop in persons in the fifth decade of life and is most commonly diagnosed in the sixth decade. The incidence of Paget disease in persons older than 80 years is approximately 10%. There is a juvenile form of Paget disease, but it is very different from the adult form.
  • #20 Paget’s Disease: Causes, Symptoms, and Treatment | Doctor
    https://patient.info/doctor/pagets-disease-of-bone-pro
    The incidence increased steeply with age among men and women, and was estimated at 0.3 cases per 10,000 person-years among women aged 55-59 years and 0.5 cases per 10,000 person-years among men of similar age. […] At the age of 85 years, this rate rose to 5.4 among women and 7.6 among men. […] Based on these assumptions, the prevalence of clinically diagnosed Paget’s disease is 0.3% among men and women 55 years old.
  • #21 Paget’s disease of bone: when and why to refer to specialist care | British Journal of General Practice
    https://bjgp.org/content/70/700/561
    Pagets disease is rare below the age of 50 but becomes progressively more common thereafter and males are affected more often than females (1.4:1). Pagets disease has a strong genetic component and particularly targets people of British descent. Emerging evidence indicates that susceptibility to PDB is accounted for, in part, by inheritance of variants in genes that cause upregulation of osteoclast activity. Environmental factors also contribute, however, as evidenced by a reduction in prevalence and severity of the disease over the past 50 years. Suggested environmental triggers include viral infections and calcium and vitamin deficiency during skeletal growth and skeletal trauma. […] Referral to secondary care is advisable in a patient thought to have pain or deformity due to PDB so that further assessment can be performed and treatment offered if appropriate.
  • #22 Paget’s disease of bone – Wikipedia
    https://en.wikipedia.org/wiki/Paget%27s_disease_of_bone
    Paget’s disease of bone is the second most common metabolic bone disorder, after osteoporosis. The overall prevalence and severity of Paget’s disease are decreasing; the cause for these changes is unclear. Paget’s disease is rare in people less than 55 years of age, and the prevalence increases with age. Evidence from studies of autopsy results have demonstrated Paget’s disease in about 3 percent of people older than 40 years of age. Paget’s disease is more common in males than females. Rates of Paget’s disease are about 50 percent higher in men than in women. […] About 15 percent of people with Paget’s disease also have a family member with the disease. In cases where the disease is familial, it is inherited in an autosomal dominant fashion, although not all people that inherit the affected version of the genes will express the disease (incomplete penetrance).
  • #23 Sporadic Paget’s disease of the bone. Case series and literature review | Revista Colombiana de Reumatología (English Edition)
    https://www.elsevier.es/en-revista-revista-colombiana-reumatologia-english-edition–474-articulo-sporadic-paget-s-disease-bone-case-S2444440520300455
    Between 5 and 40% of the patients have a family history of the disease, particularly in the high prevalence areas. The risk of developing PD in first degree relatives has been estimated at between 7 to 10-fold higher than in the general population. Some families have also been described in which the disease is inherited as an autosomal dominant trait, with high penetrance during the sixth and seventh decades of life. It affects both males and females, being slightly more frequent in males. It is a rare disease among people under 40 years of age. Its incidence increases with age, with estimates of 0.3 cases per 10,000 people-year in women and 0.5 cases per 10,000 people-year in males between 55 and 59 years old. This rate significantly increases after 85 years old, with 5.4 in females and 7.6 for males. The prevalence of the clinical diagnosis is of 0.3% for males and females over 55 years old. […] PD is a significantly old disease, even present in dinosaurs of the late Jurassic period (150 million years), diagnosed in one specimen in Tanzania.
  • #24
    https://link.springer.com/article/10.1007/s11914-008-0022-8
    Pagets disease of bone is a focal disorder of aging bone. […] The classic late-onset Pagets disease is often caused by a P392L mutation in the gene SQSTM1, which disturbs signaling pathways in osteoclasts on cell activation. […] Its identification, along with the elucidation of other mutations underlying early-onset Pagets and Pagets disease seen in association with inclusion body myopathy and frontotemporal dementia, have redefined our understanding of genetic disorders of bone remodeling by emphasizing the importance of environmental determinants in their pathophysiology. […] The epidemiology of Pagets disease in Britain: is the prevalence decreasing? […] Pagets disease in New Zealand: evidence for declining prevalence. […] Epidemiology of Pagets disease in Europe: the prevalence is decreasing. […] The prevalence of pelvic Pagets disease of bone in the United States. […] Long-term trends in the incidence of Pagets disease of bone. […] Geographic variation in the prevalence of Pagets disease of bone.
  • #25 Paget’s disease of bone: A clinical update
    https://www1.racgp.org.au/ajgp/2021/january-february/pagets-disease-of-bone
    Pagets disease of bone (PDB) is a common destructive condition of bone that affects 12% of the population, most typically those over the age of 55 years. […] The prevalence of PDB is highest in northwest England and in countries where there is prominent British ancestry, such as Australia and New Zealand. Epidemiological studies suggest that the prevalence and severity of PDB has been decreasing over recent decades. […] While the aetiology of PDB is still unclear, PDB is strongly genetic, with 40% of affected individuals having a positive family history. […] Environmental risk factors for PDB include early life exposure to wood fire heating, viral infections such as measles, paramyxovirus and respiratory syncytial virus, and environmental toxins such as lead and cadmium. […] The current management guidelines for PDB recommend that treatment should be reserved for symptomatic patients, while those who are asymptomatic be observed. […] For the majority of patients with PDB who are asymptomatic, the question is whether treatment should be given to reduce bone turnover markers and prevent complications such as osteoarthritis and fractures.
  • #26
    https://journals.lww.com/epidem/abstract/1997/05000/cattle,_pets,_and_paget_s_disease_of_bone.8.aspx
    To identify animal-related factors associated with Paget’s disease of bone (osteitis deformans), we conducted a case-control study in two geographical areas of Spain characterized by different socioeconomic profiles. […] From a logistic regression analysis, we found that contact with bovine cattle [odds ratio (OR) = 2.14; 95% confidence interval (CI) = 1.163.94], consumption of meat traceable to sick livestock (OR = 2.70; 95% CI = 0.987.43), and frequent consumption during youth of brains (OR = 1.77; 95% CI = 1.052.98) and other viscera increased the risk for Paget’s disease of bone. […] Overall, our results support the hypothesis that various animal species are carriers of etiologic agents of Paget’s disease of bone.
  • #27 Paget’s Disease of Bone – OrthoInfo – AAOS
    https://orthoinfo.aaos.org/en/diseases–conditions/pagets-disease-of-bone
    Paget’s disease most often affects older people, occurring in approximately 2 to 3% of the population over the age of 55. […] Many patients with Paget’s disease have no symptoms at all and are unaware they have the disease until X-rays are taken for some other reason. […] In many cases, Paget’s disease is discovered incidentally, when X-rays are taken or bloodwork is performed for some other reason. […] Paget’s disease can usually be diagnosed by looking at an X-ray. A bone affected by Pagets usually appears larger and denser than a normal bone. […] Paget’s disease can also be detected with urine tests that show rapid bone turnover. […] There is no cure for Pagets disease and no way to reverse its effects on bone. Treatment focuses on relieving symptoms and preventing future complications.
  • #28 Paget’s Disease of Bone: Approach to Its Historical Origins | Reumatología Clínica
    https://reumatologiaclinica.org/en-paget39s-disease-bone-approach-its-articulo-S2173574317300011
    Paget’s disease of bone is the second most common bone disease after osteoporosis. It is characterized by focal regions of highly exaggerated bone remodeling, with abnormalities in all phases of the remodeling process. […] The disease is usually detected in individuals over the age of 55 years. It becomes more frequent as individuals get older, and there is a slight predominance of men. The most common clinical signs are bone pain, osteoarthritis and bone fracture. It is frequently diagnosed incidentally on the basis of a compatible radiological image taken during an examination for some other medical concern, given that it can develop without being detected for years. For this reason, the disorder is considered to be underdiagnosed in the general population. […] The geographic distribution is irregular. In epidemiological studies performed over the past 30 years, the prevalence of Paget’s disease has been seen to be high in northwestern European populations. It is markedly more frequent in Great Britain (3%-5% of the population over 55 years of age) and in areas to which this population has emigrated, such as Australia, New Zealand and the United States. Other regions in which the rate is high are France and Spain (0.7%-1.3%).
  • #29 Bone scan findings of Paget’s disease of bone in patients with VCP Multisystem Proteinopathy 1 | Scientific Reports
    https://www.nature.com/articles/s41598-024-54526-7
    Despite the lack of treatment options for the neuromuscular and neurological manifestations of MSP1, treatment of PDB with bisphosphonates is very effective in alleviating bone pain, and preventing deformity and other comorbidities. […] Currently, most bone scan data in MSP1 patients is scattered in different case reports. […] Here, we present bone scan findings from twelve patients with MSP1 from one clinical center and systematically reviewed the anatomically affected areas. […] Positive findings on bone scans, in conjunction with the clinical history and assessment and correlation with other imaging modalities such as skeletal radiography is considered very suspicious of the diagnosis of PDB in this high-risk population. […] Our study shows that bone scan imaging can be used in conjunction with clinical history, laboratory testing and plain radiographs to ascertain affected Pagetic bones in asymptomatic patients with MSP1 due to its high detection sensitivity. Early surveillance, treatment, and monitoring are paramount to prevent the serious complications of PDB in MSP1 patients.
  • #30 Paget’s Disease of the Bone: Symptoms, Causes & Treatment
    https://my.clevelandclinic.org/health/diseases/21929-pagets-disease-of-the-bone
    Pagets disease of the bone can sometimes run in families. If you have a family member who has the disease, you may be more likely to develop it. […] The prognosis (outlook) for Pagets disease of the bone is excellent if it’s diagnosed and treated early in the course of the disease before complications such as arthritis, fractures and hearing loss have occurred.
  • #31 Paget’s Disease of Bone and Its Symptoms and Treatment
    https://www.verywellhealth.com/pagets-disease-overview-4587355
    Pagets disease of bone is the second most common metabolic bone condition after osteoporosis. […] Pagets disease of bone is the second most common metabolic bone condition, possibly affecting about two percent of people aged at least 55 years living in areas where it is found. Only osteoporosis is more prevalent. […] The prevalence of Pagets disease of bone has been decreasing in recent years. Some scientists have associated this with the development of vaccines for certain types of viruses, including measles. However, this has not been definitively proven. […] Less than 1% of patients with this condition develop bone cancer, but it is important to maintain surveillance with your healthcare provider after a diagnosis of Pagets disease of bone.
  • #32 Paget Disease of Bone for Primary Care | AAFP
    https://www.aafp.org/pubs/afp/issues/2020/0815/p224.html
    Paget disease of bone affects persons in middle and older age, with the incidence nearly doubling every decade after 50 years of age (it is rarely diagnosed in patients younger than 40 years). Both men and women are affected; however, men are at a higher risk and are about one-and-a-half times more likely to have the disease than women. In the United States, the prevalence in the general population is estimated to be about 1% to 2%, with regional variation (i.e., it is more common in the Northeast and less common in the South). Paget disease of bone is more common in European countries such as England, Scotland, Central Europe, and Greece (estimates range from 2% to 9%) and is uncommon in Scandinavian and Asian countries. However, temporal trends in recent decades point to a decrease in prevalence and severity. […] Early diagnosis is key to managing Paget disease of bone because patients generally have a good prognosis if treatment is administered before major complications arise.