Hemofilia – Rokowania, prognozy i postęp choroby

Hemofilia
Rokowania, prognozy i postęp choroby

Rokowanie u pacjentów z hemofilią uległo znaczącej poprawie w ostatnich dekadach, głównie dzięki wprowadzeniu profilaktycznego leczenia koncentratami czynników krzepnięcia oraz kompleksowej opiece medycznej. W latach 60. XX wieku średnia długość życia osób z ciężką hemofilią wynosiła 20-30 lat, natomiast obecnie dzieci leczone od wczesnego dzieciństwa osiągają oczekiwaną długość życia porównywalną z populacją ogólną. Mediana długości życia mężczyzn z ciężką hemofilią w Holandii wzrosła z 59 lat (1992-2001) do 73 lat (2001-2018). Mimo to, mężczyźni z hemofilią mają nadal o około 10 lat krótszą oczekiwaną długość życia niż osoby bez hemofilii. Kluczowymi czynnikami wpływającymi na rokowanie są ciężkość choroby (70% pacjentów ma postać ciężką), dostęp do leczenia oraz powikłania, takie jak krwawienia wewnątrzczaszkowe, które stanowią około 30% zgonów w tej grupie.

Hemofilia (Hemophilia) – Rokowanie i przewidywanie przebiegu choroby

Oczekiwana długość życia
Czynniki wpływające na rokowanie
Poważne powikłania wpływające na rokowanie
Współczesne strategie leczenia wpływające na rokowanie
Profilaktyka i wyniki leczenia
Nowe terapie i ich wpływ na rokowanie
Przewidywanie ciężkości hemofilii A
Jakość życia i perspektywa pacjenta
Obecne rokowanie w hemofilii
Kolejne rozdziały

Hemofilia (Hemophilia) – Rokowanie i przewidywanie przebiegu choroby

Rokowanie u pacjentów z hemofilią zmieniło się dramatycznie w ciągu ostatnich kilku dekad. Z choroby niegdyś uważanej za śmiertelną, hemofilia przekształciła się w schorzenie, które przy odpowiednim leczeniu pozwala pacjentom osiągnąć oczekiwaną długość życia zbliżoną do populacji ogólnej.¹² Nowoczesne metody leczenia, w tym profilaktyczne podawanie czynników krzepnięcia, kompleksowa opieka i nowe terapie, przyczyniły się do znacznej poprawy w przewidywaniu wyników leczenia i jakości życia pacjentów z hemofilią.³

Oczekiwana długość życia

Oczekiwana długość życia pacjentów z hemofilią znacząco poprawiła się na przestrzeni lat:⁴⁵

W latach 60. XX wieku większość osób urodzonych z ciężką hemofilią nie dożywała wieku dorosłego, a średnia długość życia wynosiła od 20 do 30 lat⁶⁷
Obecnie, dzieci z rozpoznaną i leczoną hemofilią mają oczekiwaną długość życia porównywalną z populacją ogólną, według szacunków Światowej Federacji Hemofilii (WFH)⁸⁹
Według badania przeprowadzonego w Holandii, mediana długości życia mężczyzn z ciężką hemofilią wzrosła z 59 lat w latach 1992-2001 do 73 lat w okresie 2001-2018¹⁰
Mężczyźni żyjący z hemofilią mają oczekiwaną długość życia o około 10 lat krótszą niż mężczyźni bez hemofilii, według danych WFH z 2012 roku¹¹¹²

Czynniki wpływające na rokowanie

Rokowanie pacjentów z hemofilią zależy od kilku kluczowych czynników:¹³¹⁴

Stopień ciężkości choroby

Hemofilia jest klasyfikowana jako łagodna, umiarkowana lub ciężka, w zależności od poziomu czynnika krzepnięcia we krwi. Około 70% osób z hemofilią ma postać ciężką, co wpływa na rokowanie.¹⁵ Współczynnik śmiertelności dla mężczyzn z hemofilią jest dwukrotnie wyższy niż u zdrowych mężczyzn w populacji ogólnej, a w przypadku ciężkich postaci hemofilii – od czterech do sześciu razy wyższy.¹⁶

Osoby z łagodną hemofilią mogą mieć normalną lub zbliżoną do normalnej długość życia nawet bez leczenia¹⁷
Pacjenci z ciężką hemofilią bez odpowiedniego leczenia mają niezwykle niekorzystne rokowanie¹⁸
Osoby z ciężką hemofilią w krajach rozwiniętych, u których leczenie czynnikami krzepnięcia rozpoczęto przed 1-2 rokiem życia, mają normalną długość życia¹⁹

Dostęp do leczenia

Dostęp do odpowiedniego leczenia jest kluczowym czynnikiem determinującym rokowanie pacjentów z hemofilią:²⁰²¹

Osoby w krajach rozwijających się, bez dostępu do leczenia, mają około dwukrotnie wyższy wskaźnik śmiertelności niż populacja ogólna²²
Pacjenci z hemofilią, którzy otrzymują odpowiednie leczenie, żyją prawie tak długo jak osoby bez hemofilii²³
Dzięki nowoczesnym technikom przesiewowym ryzyko zakażenia podczas leczenia hemofilii jest obecnie minimalne, co przyczyniło się do poprawy wyników u pacjentów diagnozowanych i leczonych w XXI wieku²⁴

Poważne powikłania wpływające na rokowanie

Najważniejsze, zagrażające życiu powikłania hemofilii, które mają istotny wpływ na rokowanie, to:²⁵

Krwawienia wewnątrzczaszkowe – około 10% osób z ciężką hemofilią doświadcza krwawienia wewnątrzczaszkowego, a 30% z tych przypadków kończy się zgonem; istnieje do 8% ryzyka wystąpienia krwawienia wewnątrzczaszkowego w ciągu życia pacjenta z hemofilią²⁶
Krwotoki do tkanek miękkich wokół dróg oddechowych lub innych narządów wewnętrznych²⁷
Jedna trzecia wszystkich zgonów związanych z hemofilią jest spowodowana krwawieniem wewnątrzczaszkowym²⁸

Współczesne strategie leczenia wpływające na rokowanie

Dwa główne osiągnięcia przyczyniły się do wydłużenia oczekiwanej długości życia pacjentów:²⁹

Koncentraty czynników krzepnięcia znane jako koncentraty czynnika antyhemofilowego, które zapobiegają poważnym krwawieniom³⁰
Kompleksowa opieka medyczna nad pacjentami z hemofilią³¹

Te dwa czynniki łącznie mogą zapobiec pogorszeniu stanu choroby u wielu pacjentów, prowadząc do wydłużenia oczekiwanej długości życia i poprawy jakości życia.³²

Profilaktyka i wyniki leczenia

Profilaktyczne leczenie hemofilii stało się nowym standardem opieki, stopniowo wdrażanym od wczesnego dzieciństwa.³³ Korzyści z profilaktyki w redukcji częstości krwawień zostały wielokrotnie udokumentowane w badaniach klinicznych.³⁴

W rzeczywistej praktyce klinicznej istnieje jednak duża zmienność w leczeniu hemofilii:³⁵

Mediana rocznego wskaźnika krwawień (ABR) u pacjentów z ciężką hemofilią A stosujących profilaktykę wynosi 4,9, a z ciężką hemofilią B – 3,0³⁶
Tylko 5,7% pacjentów (3 z 53) z ciężką hemofilią A stosujących profilaktykę osiągnęło zerowy wskaźnik krwawień³⁷
Wyższy roczny wskaźnik krwawień był istotnie związany z aktywnym zapaleniem wątroby typu B i C lub jego historią³⁸

Profilaktyka i ścisłe przestrzeganie schematu leczenia profilaktycznego są niezbędne dla poprawy rokowania, szczególnie w podgrupie pacjentów z historią wirusowego zapalenia wątroby.³⁹

Nowe terapie i ich wpływ na rokowanie

Pojawienie się terapii genowej i mimetyków koagulacji, dających bezprecedensowe wyniki pod względem poziomu i trwałości efektu krzepnięcia, wymaga całkowitej ponownej oceny wyników mierzonych w badaniach nad hemofilią.⁴⁰

Zaawansowane terapie wykazują zwiększoną skuteczność przy zmniejszonym obciążeniu chorobą i potencjał wyleczenia:⁴¹

Systematyczne zbieranie danych o wynikach istotnych dla pacjenta (PIO) jest kluczowe w tym procesie, ponieważ osiągnięcie prawie normalnego poziomu aktywności czynnika może zmienić postrzeganie wpływu krwawień urazowych⁴²
Terapia genowa (np. waloktokojen roksaparwowek-rwoks) ma potencjał wydłużenia oczekiwanej długości życia u osób z ciężką hemofilią A, jednak potrzebne są długoterminowe badania, aby ocenić, czy terapia genowa może poprawić rokowanie⁴³

Przewidywanie ciężkości hemofilii A

Nowe metody przewidywania ciężkości hemofilii wykorzystują zaawansowane techniki analizy i uczenia maszynowego:⁴⁴

Połączenie analizy struktury białka i uczenia maszynowego jest potężnym podejściem do przewidywania i zrozumienia wpływu mutacji na wynik choroby⁴⁵
Mutacje w pozycjach o niskiej dostępności dla rozpuszczalnika i niskiej powierzchni wykluczonej z rozpuszczalnika, a także w wysoce konserwatywnych resztach, są związane z cięższymi fenotypami⁴⁶
Opracowano ramy uczenia maszynowego o małych danych wejściowych, które wykazały bliską zgodność między wynikami in silico, in vitro i danymi klinicznymi⁴⁷⁴⁸
Możliwość dostosowania progów Wskaźnika Ciężkości dodaje elastyczności do ram i tworzy kompromis między mniejszą dokładnością a większą liczbą sklasyfikowanych przypadków lub mniejszą liczbą sklasyfikowanych przypadków, ale z większą pewnością⁴⁹

Jakość życia i perspektywa pacjenta

Celem leczenia hemofilii jest zapobieganie zagrażającym życiu krwawieniom i długoterminowym powikłaniom związanym z krwawieniem, umożliwiając tym samym normalną długość życia i jakość życia.⁵⁰

Perspektywa pacjenta może być zintegrowana z projektowaniem badań klinicznych poprzez uwzględnienie, które obciążenia związane z chorobą i leczeniem mają największe znaczenie dla pacjentów i które aspekty badań mogłyby być lepiej dostosowane do potrzeb pacjenta.⁵¹

Okres	Oczekiwana długość życia	Główne czynniki wpływające na rokowanie
Lata 60. XX wieku	20-30 lat	Ograniczone opcje leczenia, brak profilaktyki
1992-2001	59 lat (mediana dla ciężkiej hemofilii)	Dostępność koncentratów czynników krzepnięcia, ryzyko infekcji
2001-2018	73 lata (mediana dla ciężkiej hemofilii)	Bezpieczniejsze produkty, lepsza profilaktyka, kompleksowa opieka
Obecnie – dzieci z wczesnym leczeniem	Porównywalna z populacją ogólną	Wczesne rozpoczęcie profilaktyki, kompleksowa opieka
Obecnie – dorośli z hemofilią	O 10 lat krótsza niż populacja ogólna	Historia leczenia, dostęp do opieki, powikłania

Obecne rokowanie w hemofilii

Podsumowując, rokowanie dla pacjentów z hemofilią znacznie się poprawiło w ciągu ostatnich dekad dzięki postępom w leczeniu i opiece:⁵²⁵³⁵⁴

Dzieci zdiagnozowane i leczone z powodu hemofilii mają normalną oczekiwaną długość życia⁵⁵
Dla mężczyzn z ciężką hemofilią oczekiwana długość życia wzrosła do około 56,8 lat⁵⁶
Osoby z łagodną hemofilią mogą mieć normalną lub prawie normalną długość życia nawet bez leczenia⁵⁷
Pacjenci będą wymagać leczenia przez całe życie, a intensywność leczenia zależy od typu, ciężkości i rozwoju inhibitorów⁵⁸

Zwiększenie liczby osób objętych profilaktyką i ustanowienie zindywidualizowanych koncepcji leczenia, szczególnie dla pacjentów z historią wirusowego zapalenia wątroby, może dodatkowo zmniejszyć roczne wskaźniki krwawień i poprawić funkcję stawów oraz jakość życia.⁵⁹

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Materiały źródłowe

#1 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Modern treatments have dramatically changed these outcomes, however. Nowadays, people with hemophilia who are diagnosed and started on treatment as children generally have a life expectancy that is comparable to that of the general population, according to estimates from the World Federation of Hemophilia (WFH). […] A patientâs prognosis may vary somewhat depending on the severity of disease, but today even children with severe hemophilia are generally expected to have a normal life expectancy, if they are started on treatment early. […] Based on the same WFH estimates, the life expectancy for men already living with hemophilia is about 10 years shorter than that for men without hemophilia. […] With modern screening techniques, the risk of getting an infection from hemophilia treatments nowadays is slim to none, which has helped to improve outcomes for patients diagnosed and treated in the 21st century.
#2 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#3 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Preventive measures and early treatment have significantly improved the long-term outlook, or prognosis, for people with severe hemophilia. […] Two major developments have contributed to a longer life expectancy in patients. One is clotting-promotion medicines known as antihemophilic factor concentrates, which prevent serious bleeding. The other is comprehensive care. These two factors combined can keep the disease from worsening in many patients, leading to increased life expectancy and better quality of life.
#4 Hemophilia A Prognosis: What Is the Life Expectancy? | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/hemophilia-a-prognosis-what-is-the-life-expectancy
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 in recent years. […] The severity of someones hemophilia is an important factor in their prognosis (outlook). […] Advances in hemophilia treatment have contributed to the improved prognosis, and new treatments may continue this trend. […] The study conducted in the Netherlands found that men with severe hemophilia had a lower median life expectancy than those with mild or moderate hemophilia. From 1992 to 2001, the median life expectancy was 59 years. However, it increased to 73 years between 2001 and 2018. This means that half of the men with severe hemophilia studied between 2001 and 2018 lived at least 73 years. […] According to the FDA, around 60 percent of hemophilia A cases are classified as severe. The mortality (death) rate for men with hemophilia is twice that of healthy men in the general population and for those with severe forms of hemophilia, its four to six times higher. […] Unfortunately, no current data shows how valoctocogene roxaparvovec-rvox may lengthen life expectancy in people with severe hemophilia A. More long-term studies are needed to measure whether gene therapy treatment can improve prognosis.
#5 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#6 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. About 70% of those with hemophilia have the severe form. […] The most important life-threatening complications of the disease are bleeding in the skull and hemorrhages in soft tissue around airways or other internal organs. […] About 10% of those with severe hemophilia have bleeding in the skull, and 30% with the condition die. There is an up to 8% risk that a person with the disease will develop what doctors call intracranial bleeding during their lifetime. And a third of all hemophilia deaths is due to bleeding in the skull. […] For most of human history, hemophilia was regarded as a fatal disease. In the 1960s, most people born with severe hemophilia did not live to adulthood.
#7 Hemophilia A Prognosis: What Is the Life Expectancy? | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/hemophilia-a-prognosis-what-is-the-life-expectancy
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 in recent years. […] The severity of someones hemophilia is an important factor in their prognosis (outlook). […] Advances in hemophilia treatment have contributed to the improved prognosis, and new treatments may continue this trend. […] The study conducted in the Netherlands found that men with severe hemophilia had a lower median life expectancy than those with mild or moderate hemophilia. From 1992 to 2001, the median life expectancy was 59 years. However, it increased to 73 years between 2001 and 2018. This means that half of the men with severe hemophilia studied between 2001 and 2018 lived at least 73 years. […] According to the FDA, around 60 percent of hemophilia A cases are classified as severe. The mortality (death) rate for men with hemophilia is twice that of healthy men in the general population and for those with severe forms of hemophilia, its four to six times higher. […] Unfortunately, no current data shows how valoctocogene roxaparvovec-rvox may lengthen life expectancy in people with severe hemophilia A. More long-term studies are needed to measure whether gene therapy treatment can improve prognosis.
#8 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Modern treatments have dramatically changed these outcomes, however. Nowadays, people with hemophilia who are diagnosed and started on treatment as children generally have a life expectancy that is comparable to that of the general population, according to estimates from the World Federation of Hemophilia (WFH). […] A patientâs prognosis may vary somewhat depending on the severity of disease, but today even children with severe hemophilia are generally expected to have a normal life expectancy, if they are started on treatment early. […] Based on the same WFH estimates, the life expectancy for men already living with hemophilia is about 10 years shorter than that for men without hemophilia. […] With modern screening techniques, the risk of getting an infection from hemophilia treatments nowadays is slim to none, which has helped to improve outcomes for patients diagnosed and treated in the 21st century.
#9 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. The federation also states that children diagnosed with and treated for hemophilia have a normal life expectancy. […] If you have hemophilia, you’ll need medical treatment for the rest of your life. How much treatment you’ll need depends on your condition type, severity and if you develop inhibitors.
#10 Hemophilia A Prognosis: What Is the Life Expectancy? | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/hemophilia-a-prognosis-what-is-the-life-expectancy
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 in recent years. […] The severity of someones hemophilia is an important factor in their prognosis (outlook). […] Advances in hemophilia treatment have contributed to the improved prognosis, and new treatments may continue this trend. […] The study conducted in the Netherlands found that men with severe hemophilia had a lower median life expectancy than those with mild or moderate hemophilia. From 1992 to 2001, the median life expectancy was 59 years. However, it increased to 73 years between 2001 and 2018. This means that half of the men with severe hemophilia studied between 2001 and 2018 lived at least 73 years. […] According to the FDA, around 60 percent of hemophilia A cases are classified as severe. The mortality (death) rate for men with hemophilia is twice that of healthy men in the general population and for those with severe forms of hemophilia, its four to six times higher. […] Unfortunately, no current data shows how valoctocogene roxaparvovec-rvox may lengthen life expectancy in people with severe hemophilia A. More long-term studies are needed to measure whether gene therapy treatment can improve prognosis.
#11 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Modern treatments have dramatically changed these outcomes, however. Nowadays, people with hemophilia who are diagnosed and started on treatment as children generally have a life expectancy that is comparable to that of the general population, according to estimates from the World Federation of Hemophilia (WFH). […] A patientâs prognosis may vary somewhat depending on the severity of disease, but today even children with severe hemophilia are generally expected to have a normal life expectancy, if they are started on treatment early. […] Based on the same WFH estimates, the life expectancy for men already living with hemophilia is about 10 years shorter than that for men without hemophilia. […] With modern screening techniques, the risk of getting an infection from hemophilia treatments nowadays is slim to none, which has helped to improve outcomes for patients diagnosed and treated in the 21st century.
#12 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. The federation also states that children diagnosed with and treated for hemophilia have a normal life expectancy. […] If you have hemophilia, you’ll need medical treatment for the rest of your life. How much treatment you’ll need depends on your condition type, severity and if you develop inhibitors.
#13 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Modern treatments have dramatically changed these outcomes, however. Nowadays, people with hemophilia who are diagnosed and started on treatment as children generally have a life expectancy that is comparable to that of the general population, according to estimates from the World Federation of Hemophilia (WFH). […] A patientâs prognosis may vary somewhat depending on the severity of disease, but today even children with severe hemophilia are generally expected to have a normal life expectancy, if they are started on treatment early. […] Based on the same WFH estimates, the life expectancy for men already living with hemophilia is about 10 years shorter than that for men without hemophilia. […] With modern screening techniques, the risk of getting an infection from hemophilia treatments nowadays is slim to none, which has helped to improve outcomes for patients diagnosed and treated in the 21st century.
#14 Hemophilia A Prognosis: What Is the Life Expectancy? | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/hemophilia-a-prognosis-what-is-the-life-expectancy
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 in recent years. […] The severity of someones hemophilia is an important factor in their prognosis (outlook). […] Advances in hemophilia treatment have contributed to the improved prognosis, and new treatments may continue this trend. […] The study conducted in the Netherlands found that men with severe hemophilia had a lower median life expectancy than those with mild or moderate hemophilia. From 1992 to 2001, the median life expectancy was 59 years. However, it increased to 73 years between 2001 and 2018. This means that half of the men with severe hemophilia studied between 2001 and 2018 lived at least 73 years. […] According to the FDA, around 60 percent of hemophilia A cases are classified as severe. The mortality (death) rate for men with hemophilia is twice that of healthy men in the general population and for those with severe forms of hemophilia, its four to six times higher. […] Unfortunately, no current data shows how valoctocogene roxaparvovec-rvox may lengthen life expectancy in people with severe hemophilia A. More long-term studies are needed to measure whether gene therapy treatment can improve prognosis.
#15 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. About 70% of those with hemophilia have the severe form. […] The most important life-threatening complications of the disease are bleeding in the skull and hemorrhages in soft tissue around airways or other internal organs. […] About 10% of those with severe hemophilia have bleeding in the skull, and 30% with the condition die. There is an up to 8% risk that a person with the disease will develop what doctors call intracranial bleeding during their lifetime. And a third of all hemophilia deaths is due to bleeding in the skull. […] For most of human history, hemophilia was regarded as a fatal disease. In the 1960s, most people born with severe hemophilia did not live to adulthood.
#16 Hemophilia A Prognosis: What Is the Life Expectancy? | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/hemophilia-a-prognosis-what-is-the-life-expectancy
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 in recent years. […] The severity of someones hemophilia is an important factor in their prognosis (outlook). […] Advances in hemophilia treatment have contributed to the improved prognosis, and new treatments may continue this trend. […] The study conducted in the Netherlands found that men with severe hemophilia had a lower median life expectancy than those with mild or moderate hemophilia. From 1992 to 2001, the median life expectancy was 59 years. However, it increased to 73 years between 2001 and 2018. This means that half of the men with severe hemophilia studied between 2001 and 2018 lived at least 73 years. […] According to the FDA, around 60 percent of hemophilia A cases are classified as severe. The mortality (death) rate for men with hemophilia is twice that of healthy men in the general population and for those with severe forms of hemophilia, its four to six times higher. […] Unfortunately, no current data shows how valoctocogene roxaparvovec-rvox may lengthen life expectancy in people with severe hemophilia A. More long-term studies are needed to measure whether gene therapy treatment can improve prognosis.
#17 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#18 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#19 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#20 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#21 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. The federation also states that children diagnosed with and treated for hemophilia have a normal life expectancy. […] If you have hemophilia, you’ll need medical treatment for the rest of your life. How much treatment you’ll need depends on your condition type, severity and if you develop inhibitors.
#22 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#23 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#24 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Modern treatments have dramatically changed these outcomes, however. Nowadays, people with hemophilia who are diagnosed and started on treatment as children generally have a life expectancy that is comparable to that of the general population, according to estimates from the World Federation of Hemophilia (WFH). […] A patientâs prognosis may vary somewhat depending on the severity of disease, but today even children with severe hemophilia are generally expected to have a normal life expectancy, if they are started on treatment early. […] Based on the same WFH estimates, the life expectancy for men already living with hemophilia is about 10 years shorter than that for men without hemophilia. […] With modern screening techniques, the risk of getting an infection from hemophilia treatments nowadays is slim to none, which has helped to improve outcomes for patients diagnosed and treated in the 21st century.
#25 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. About 70% of those with hemophilia have the severe form. […] The most important life-threatening complications of the disease are bleeding in the skull and hemorrhages in soft tissue around airways or other internal organs. […] About 10% of those with severe hemophilia have bleeding in the skull, and 30% with the condition die. There is an up to 8% risk that a person with the disease will develop what doctors call intracranial bleeding during their lifetime. And a third of all hemophilia deaths is due to bleeding in the skull. […] For most of human history, hemophilia was regarded as a fatal disease. In the 1960s, most people born with severe hemophilia did not live to adulthood.
#26 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. About 70% of those with hemophilia have the severe form. […] The most important life-threatening complications of the disease are bleeding in the skull and hemorrhages in soft tissue around airways or other internal organs. […] About 10% of those with severe hemophilia have bleeding in the skull, and 30% with the condition die. There is an up to 8% risk that a person with the disease will develop what doctors call intracranial bleeding during their lifetime. And a third of all hemophilia deaths is due to bleeding in the skull. […] For most of human history, hemophilia was regarded as a fatal disease. In the 1960s, most people born with severe hemophilia did not live to adulthood.
#27 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. About 70% of those with hemophilia have the severe form. […] The most important life-threatening complications of the disease are bleeding in the skull and hemorrhages in soft tissue around airways or other internal organs. […] About 10% of those with severe hemophilia have bleeding in the skull, and 30% with the condition die. There is an up to 8% risk that a person with the disease will develop what doctors call intracranial bleeding during their lifetime. And a third of all hemophilia deaths is due to bleeding in the skull. […] For most of human history, hemophilia was regarded as a fatal disease. In the 1960s, most people born with severe hemophilia did not live to adulthood.
#28 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. About 70% of those with hemophilia have the severe form. […] The most important life-threatening complications of the disease are bleeding in the skull and hemorrhages in soft tissue around airways or other internal organs. […] About 10% of those with severe hemophilia have bleeding in the skull, and 30% with the condition die. There is an up to 8% risk that a person with the disease will develop what doctors call intracranial bleeding during their lifetime. And a third of all hemophilia deaths is due to bleeding in the skull. […] For most of human history, hemophilia was regarded as a fatal disease. In the 1960s, most people born with severe hemophilia did not live to adulthood.
#29 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Preventive measures and early treatment have significantly improved the long-term outlook, or prognosis, for people with severe hemophilia. […] Two major developments have contributed to a longer life expectancy in patients. One is clotting-promotion medicines known as antihemophilic factor concentrates, which prevent serious bleeding. The other is comprehensive care. These two factors combined can keep the disease from worsening in many patients, leading to increased life expectancy and better quality of life.
#30 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Preventive measures and early treatment have significantly improved the long-term outlook, or prognosis, for people with severe hemophilia. […] Two major developments have contributed to a longer life expectancy in patients. One is clotting-promotion medicines known as antihemophilic factor concentrates, which prevent serious bleeding. The other is comprehensive care. These two factors combined can keep the disease from worsening in many patients, leading to increased life expectancy and better quality of life.
#31 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Preventive measures and early treatment have significantly improved the long-term outlook, or prognosis, for people with severe hemophilia. […] Two major developments have contributed to a longer life expectancy in patients. One is clotting-promotion medicines known as antihemophilic factor concentrates, which prevent serious bleeding. The other is comprehensive care. These two factors combined can keep the disease from worsening in many patients, leading to increased life expectancy and better quality of life.
#32 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Preventive measures and early treatment have significantly improved the long-term outlook, or prognosis, for people with severe hemophilia. […] Two major developments have contributed to a longer life expectancy in patients. One is clotting-promotion medicines known as antihemophilic factor concentrates, which prevent serious bleeding. The other is comprehensive care. These two factors combined can keep the disease from worsening in many patients, leading to increased life expectancy and better quality of life.
#33 Hemophilia trials in the twentyâfirst century: Defining patient important outcomes
https://pmc.ncbi.nlm.nih.gov/articles/PMC6462740/
Treatment for hemophilia has advanced dramatically over the past 5 decades. […] The success of prophylactic therapy in preventing bleeding and decreasing the progression of joint disease has established a new standard of care, progressively adopted since early childhood. […] The advent of gene therapy and coagulation mimetics, producing unprecedented results in terms of level and durability of their clotting effect, necessitates a complete reassessment of outcomes measured in hemophilia trials in light of the progress in the science of outcome measurements, to ensure appropriate assessment of the value contributed by these advanced therapies. […] The importance of defining, choosing, measuring, analyzing, and reporting outcomes appropriately has always been at the core of health care practice and research since evidence-based medicine came into play.
#34
https://link.springer.com/article/10.1007/s00277-020-04250-9
The current standard of care treatment for severe hemophilia A and B (SHA and SHB) is the prophylactic intravenous replacement of coagulation factor VIII or IX (FVIII/FIX) to prevent spontaneous bleeding. […] The advantage of prophylaxis in reducing bleeding rates has been documented repeatedly in clinical trials. However, in everyday clinical practice, a huge variability in the management of hemophilia is reported, and some studies suggested higher bleeding rates outside of clinical trials. […] The primary goal of the study was to describe a real-world cohort of persons with SHA and SHB without inhibitors with regard to treatment type and regimen and to investigate the annualized bleeding rate (ABR). Furthermore, factors correlating with the ABR were explored. […] The median ABR in subjects with SHA and SHB on prophylaxis was 4.9 and 3.0, respectively.
#35
https://link.springer.com/article/10.1007/s00277-020-04250-9
The current standard of care treatment for severe hemophilia A and B (SHA and SHB) is the prophylactic intravenous replacement of coagulation factor VIII or IX (FVIII/FIX) to prevent spontaneous bleeding. […] The advantage of prophylaxis in reducing bleeding rates has been documented repeatedly in clinical trials. However, in everyday clinical practice, a huge variability in the management of hemophilia is reported, and some studies suggested higher bleeding rates outside of clinical trials. […] The primary goal of the study was to describe a real-world cohort of persons with SHA and SHB without inhibitors with regard to treatment type and regimen and to investigate the annualized bleeding rate (ABR). Furthermore, factors correlating with the ABR were explored. […] The median ABR in subjects with SHA and SHB on prophylaxis was 4.9 and 3.0, respectively.
#36
https://link.springer.com/article/10.1007/s00277-020-04250-9
The current standard of care treatment for severe hemophilia A and B (SHA and SHB) is the prophylactic intravenous replacement of coagulation factor VIII or IX (FVIII/FIX) to prevent spontaneous bleeding. […] The advantage of prophylaxis in reducing bleeding rates has been documented repeatedly in clinical trials. However, in everyday clinical practice, a huge variability in the management of hemophilia is reported, and some studies suggested higher bleeding rates outside of clinical trials. […] The primary goal of the study was to describe a real-world cohort of persons with SHA and SHB without inhibitors with regard to treatment type and regimen and to investigate the annualized bleeding rate (ABR). Furthermore, factors correlating with the ABR were explored. […] The median ABR in subjects with SHA and SHB on prophylaxis was 4.9 and 3.0, respectively.
#37
https://link.springer.com/article/10.1007/s00277-020-04250-9
Three out of 53 (5.7%) subjects, all of whom had SHA and were on prophylaxis, achieved zero bleeds. […] We also investigated factors associated with ABR and found only a significant association of higher ABRs with active or history of hepatitis B and C. Thus, prophylaxis and strict adherence to the prophylactic treatment regimen are essential for this subgroup. […] In summary, bleeding rates in persons with severe hemophilia treated with standard half-life concentrates were high in our real-world cohort, as was the proportion of on-demand therapy in those with SHA. Increasing the number of persons on prophylaxis and establishing individualized treatment concepts, especially for those with a history of hepatitis, may further reduce ABRs and improve joint function and quality of life.
#38
https://link.springer.com/article/10.1007/s00277-020-04250-9
Three out of 53 (5.7%) subjects, all of whom had SHA and were on prophylaxis, achieved zero bleeds. […] We also investigated factors associated with ABR and found only a significant association of higher ABRs with active or history of hepatitis B and C. Thus, prophylaxis and strict adherence to the prophylactic treatment regimen are essential for this subgroup. […] In summary, bleeding rates in persons with severe hemophilia treated with standard half-life concentrates were high in our real-world cohort, as was the proportion of on-demand therapy in those with SHA. Increasing the number of persons on prophylaxis and establishing individualized treatment concepts, especially for those with a history of hepatitis, may further reduce ABRs and improve joint function and quality of life.
#39
https://link.springer.com/article/10.1007/s00277-020-04250-9
Three out of 53 (5.7%) subjects, all of whom had SHA and were on prophylaxis, achieved zero bleeds. […] We also investigated factors associated with ABR and found only a significant association of higher ABRs with active or history of hepatitis B and C. Thus, prophylaxis and strict adherence to the prophylactic treatment regimen are essential for this subgroup. […] In summary, bleeding rates in persons with severe hemophilia treated with standard half-life concentrates were high in our real-world cohort, as was the proportion of on-demand therapy in those with SHA. Increasing the number of persons on prophylaxis and establishing individualized treatment concepts, especially for those with a history of hepatitis, may further reduce ABRs and improve joint function and quality of life.
#40 Hemophilia trials in the twentyâfirst century: Defining patient important outcomes
https://pmc.ncbi.nlm.nih.gov/articles/PMC6462740/
Treatment for hemophilia has advanced dramatically over the past 5 decades. […] The success of prophylactic therapy in preventing bleeding and decreasing the progression of joint disease has established a new standard of care, progressively adopted since early childhood. […] The advent of gene therapy and coagulation mimetics, producing unprecedented results in terms of level and durability of their clotting effect, necessitates a complete reassessment of outcomes measured in hemophilia trials in light of the progress in the science of outcome measurements, to ensure appropriate assessment of the value contributed by these advanced therapies. […] The importance of defining, choosing, measuring, analyzing, and reporting outcomes appropriately has always been at the core of health care practice and research since evidence-based medicine came into play.
#41 Hemophilia trials in the twentyâfirst century: Defining patient important outcomes
https://pmc.ncbi.nlm.nih.gov/articles/PMC6462740/
The potential impact of patient input is broad. Patient perspective can be integrated into clinical trial design by considering which burdens of disease and treatment matter most to patients and what aspects of trials could be better tailored for the patient subject. […] With gene therapy there are known and unknown risks that differ from factor replacement therapy. […] The goal of hemophilia treatment is to prevent life-threatening bleeding and long-term bleeding-related complications, thus allowing a normal life expectancy and quality of life. Advanced therapies are demonstrating improved efficacy with decreased disease burden, and the potential for cure. […] Systematic collection of PIOs is critical in this process, as achieving near normal factor activity levels may change the perceived impact of traumatic bleeds.
#42 Hemophilia trials in the twentyâfirst century: Defining patient important outcomes
https://pmc.ncbi.nlm.nih.gov/articles/PMC6462740/
The potential impact of patient input is broad. Patient perspective can be integrated into clinical trial design by considering which burdens of disease and treatment matter most to patients and what aspects of trials could be better tailored for the patient subject. […] With gene therapy there are known and unknown risks that differ from factor replacement therapy. […] The goal of hemophilia treatment is to prevent life-threatening bleeding and long-term bleeding-related complications, thus allowing a normal life expectancy and quality of life. Advanced therapies are demonstrating improved efficacy with decreased disease burden, and the potential for cure. […] Systematic collection of PIOs is critical in this process, as achieving near normal factor activity levels may change the perceived impact of traumatic bleeds.
#43 Hemophilia A Prognosis: What Is the Life Expectancy? | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/hemophilia-a-prognosis-what-is-the-life-expectancy
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 in recent years. […] The severity of someones hemophilia is an important factor in their prognosis (outlook). […] Advances in hemophilia treatment have contributed to the improved prognosis, and new treatments may continue this trend. […] The study conducted in the Netherlands found that men with severe hemophilia had a lower median life expectancy than those with mild or moderate hemophilia. From 1992 to 2001, the median life expectancy was 59 years. However, it increased to 73 years between 2001 and 2018. This means that half of the men with severe hemophilia studied between 2001 and 2018 lived at least 73 years. […] According to the FDA, around 60 percent of hemophilia A cases are classified as severe. The mortality (death) rate for men with hemophilia is twice that of healthy men in the general population and for those with severe forms of hemophilia, its four to six times higher. […] Unfortunately, no current data shows how valoctocogene roxaparvovec-rvox may lengthen life expectancy in people with severe hemophilia A. More long-term studies are needed to measure whether gene therapy treatment can improve prognosis.
#44 Prediction of hemophilia A severity using a small-input machine-learning framework | npj Systems Biology and Applications
https://www.nature.com/articles/s41540-021-00183-9
Hemophilia A is a relatively rare hereditary coagulation disorder caused by a defective F8 gene resulting in a dysfunctional Factor VIII protein (FVIII). […] We verified a close agreement between in silico, in vitro and clinical data. Finally, we predicted the severity of all possible mutations in the FVIII structure including those not yet reported in the medical literature. […] The combination of protein structure analysis and machine learning is a powerful approach to predict and understand the effects of mutations on the disease outcome. […] We found that mutations at positions with low solvent-accessible and low solvent-excluded surface areas, as well as in highly conserved residues are related to more severe phenotypes. […] Taken together, our results indicate that in addition to the properties inferred directly from the protein structure, properties derived from the RIN offer a distinct perspective on the importance of the residues in FVIII and their relation to HA phenotypes.
#45 Prediction of hemophilia A severity using a small-input machine-learning framework | npj Systems Biology and Applications
https://www.nature.com/articles/s41540-021-00183-9
Hemophilia A is a relatively rare hereditary coagulation disorder caused by a defective F8 gene resulting in a dysfunctional Factor VIII protein (FVIII). […] We verified a close agreement between in silico, in vitro and clinical data. Finally, we predicted the severity of all possible mutations in the FVIII structure including those not yet reported in the medical literature. […] The combination of protein structure analysis and machine learning is a powerful approach to predict and understand the effects of mutations on the disease outcome. […] We found that mutations at positions with low solvent-accessible and low solvent-excluded surface areas, as well as in highly conserved residues are related to more severe phenotypes. […] Taken together, our results indicate that in addition to the properties inferred directly from the protein structure, properties derived from the RIN offer a distinct perspective on the importance of the residues in FVIII and their relation to HA phenotypes.
#46 Prediction of hemophilia A severity using a small-input machine-learning framework | npj Systems Biology and Applications
https://www.nature.com/articles/s41540-021-00183-9
Hemophilia A is a relatively rare hereditary coagulation disorder caused by a defective F8 gene resulting in a dysfunctional Factor VIII protein (FVIII). […] We verified a close agreement between in silico, in vitro and clinical data. Finally, we predicted the severity of all possible mutations in the FVIII structure including those not yet reported in the medical literature. […] The combination of protein structure analysis and machine learning is a powerful approach to predict and understand the effects of mutations on the disease outcome. […] We found that mutations at positions with low solvent-accessible and low solvent-excluded surface areas, as well as in highly conserved residues are related to more severe phenotypes. […] Taken together, our results indicate that in addition to the properties inferred directly from the protein structure, properties derived from the RIN offer a distinct perspective on the importance of the residues in FVIII and their relation to HA phenotypes.
#47 Prediction of hemophilia A severity using a small-input machine-learning framework | npj Systems Biology and Applications
https://www.nature.com/articles/s41540-021-00183-9
Hemophilia A is a relatively rare hereditary coagulation disorder caused by a defective F8 gene resulting in a dysfunctional Factor VIII protein (FVIII). […] We verified a close agreement between in silico, in vitro and clinical data. Finally, we predicted the severity of all possible mutations in the FVIII structure including those not yet reported in the medical literature. […] The combination of protein structure analysis and machine learning is a powerful approach to predict and understand the effects of mutations on the disease outcome. […] We found that mutations at positions with low solvent-accessible and low solvent-excluded surface areas, as well as in highly conserved residues are related to more severe phenotypes. […] Taken together, our results indicate that in addition to the properties inferred directly from the protein structure, properties derived from the RIN offer a distinct perspective on the importance of the residues in FVIII and their relation to HA phenotypes.
#48 Prediction of hemophilia A severity using a small-input machine-learning framework | npj Systems Biology and Applications
https://www.nature.com/articles/s41540-021-00183-9
We verified a close agreement between the in silico and in vitro results, as evidenced by the fact that the most dramatic reductions in the chromogenic and secretion activities of the FVIII protein were accompanied by high Severity Scores. […] The ability to adjust the Severity Score thresholds added flexibility to the framework and created a trade-off between a smaller accuracy and more instances classified, or fewer instances classified but with more certainty. […] We believe that the challenge of designing a recombinant FVIII with a longer half-life and better immunogenic profile remains; however, being able to mechanistically study mutations in silico brings us a step closer to this goal.
#49 Prediction of hemophilia A severity using a small-input machine-learning framework | npj Systems Biology and Applications
https://www.nature.com/articles/s41540-021-00183-9
We verified a close agreement between the in silico and in vitro results, as evidenced by the fact that the most dramatic reductions in the chromogenic and secretion activities of the FVIII protein were accompanied by high Severity Scores. […] The ability to adjust the Severity Score thresholds added flexibility to the framework and created a trade-off between a smaller accuracy and more instances classified, or fewer instances classified but with more certainty. […] We believe that the challenge of designing a recombinant FVIII with a longer half-life and better immunogenic profile remains; however, being able to mechanistically study mutations in silico brings us a step closer to this goal.
#50 Hemophilia trials in the twentyâfirst century: Defining patient important outcomes
https://pmc.ncbi.nlm.nih.gov/articles/PMC6462740/
The potential impact of patient input is broad. Patient perspective can be integrated into clinical trial design by considering which burdens of disease and treatment matter most to patients and what aspects of trials could be better tailored for the patient subject. […] With gene therapy there are known and unknown risks that differ from factor replacement therapy. […] The goal of hemophilia treatment is to prevent life-threatening bleeding and long-term bleeding-related complications, thus allowing a normal life expectancy and quality of life. Advanced therapies are demonstrating improved efficacy with decreased disease burden, and the potential for cure. […] Systematic collection of PIOs is critical in this process, as achieving near normal factor activity levels may change the perceived impact of traumatic bleeds.
#51 Hemophilia trials in the twentyâfirst century: Defining patient important outcomes
https://pmc.ncbi.nlm.nih.gov/articles/PMC6462740/
The potential impact of patient input is broad. Patient perspective can be integrated into clinical trial design by considering which burdens of disease and treatment matter most to patients and what aspects of trials could be better tailored for the patient subject. […] With gene therapy there are known and unknown risks that differ from factor replacement therapy. […] The goal of hemophilia treatment is to prevent life-threatening bleeding and long-term bleeding-related complications, thus allowing a normal life expectancy and quality of life. Advanced therapies are demonstrating improved efficacy with decreased disease burden, and the potential for cure. […] Systematic collection of PIOs is critical in this process, as achieving near normal factor activity levels may change the perceived impact of traumatic bleeds.
#52 Hemophilia Prognosis and Life Expectancy – Hemophilia News TodayEnvelope icon
https://hemophilianewstoday.com/hemophilia-prognosis-life-expectancy/
Preventive measures and early treatment have significantly improved the long-term outlook, or prognosis, for people with severe hemophilia. […] Two major developments have contributed to a longer life expectancy in patients. One is clotting-promotion medicines known as antihemophilic factor concentrates, which prevent serious bleeding. The other is comprehensive care. These two factors combined can keep the disease from worsening in many patients, leading to increased life expectancy and better quality of life.
#53 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#54 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. The federation also states that children diagnosed with and treated for hemophilia have a normal life expectancy. […] If you have hemophilia, you’ll need medical treatment for the rest of your life. How much treatment you’ll need depends on your condition type, severity and if you develop inhibitors.
#55 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. The federation also states that children diagnosed with and treated for hemophilia have a normal life expectancy. […] If you have hemophilia, you’ll need medical treatment for the rest of your life. How much treatment you’ll need depends on your condition type, severity and if you develop inhibitors.
#56 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#57 Hemophilia Life Expectancy and Primary Causes of Death
https://www.healthline.com/health/hemophilia-a/hemophilia-life-expectancy
Treatment for hemophilia has improved greatly in recent decades. The life expectancy for people with hemophilia is now similar to that of the general population. […] The life expectancy of people treated for hemophilia continues to improve and is now approaching the life expectancy of the general population. […] The life expectancy for people with severe hemophilia has improved to about 56.8 years. […] People with mild hemophilia may have a normal or near-normal life span without treatment. People with severe hemophilia tend to have an extremely poor outlook without treatment. […] Now, people with severe hemophilia in developed countries have a normal life span if blood clotting factor therapy is started by age 1 to 2. […] People in developing countries with hemophilia and without access to treatment have about twice the mortality rate of the general population. […] People with hemophilia live almost as long as people without hemophilia if it’s treated properly.
#58 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. The federation also states that children diagnosed with and treated for hemophilia have a normal life expectancy. […] If you have hemophilia, you’ll need medical treatment for the rest of your life. How much treatment you’ll need depends on your condition type, severity and if you develop inhibitors.
#59
https://link.springer.com/article/10.1007/s00277-020-04250-9
Three out of 53 (5.7%) subjects, all of whom had SHA and were on prophylaxis, achieved zero bleeds. […] We also investigated factors associated with ABR and found only a significant association of higher ABRs with active or history of hepatitis B and C. Thus, prophylaxis and strict adherence to the prophylactic treatment regimen are essential for this subgroup. […] In summary, bleeding rates in persons with severe hemophilia treated with standard half-life concentrates were high in our real-world cohort, as was the proportion of on-demand therapy in those with SHA. Increasing the number of persons on prophylaxis and establishing individualized treatment concepts, especially for those with a history of hepatitis, may further reduce ABRs and improve joint function and quality of life.