Hemofilia – Objawy

Hemofilia to rzadkie zaburzenie krzepnięcia krwi, w którym krew nie krzepnie prawidłowo z powodu niedoboru czynników krzepnięcia. Objawy hemofilii mogą się różnić w zależności od poziomu czynników krzepnięcia we krwi pacjenta oraz od typu choroby (hemofilia A lub B). Pacjenci z hemofilią nie krwawią szybciej niż osoby zdrowe, ale krwawienie trwa u nich dłużej i może być trudniejsze do zatrzymania¹².

Klasyfikacja hemofilii według ciężkości

Ciężkość hemofilii określa się na podstawie ilości czynnika krzepnięcia obecnego we krwi, co bezpośrednio wpływa na częstość i nasilenie objawów¹²:

Łagodna hemofilia (5-40% normalnego poziomu czynnika) – krwawienie występuje zwykle tylko po poważnym urazie, operacji lub ekstrakcji zęba. Objawy mogą być niezauważalne aż do dorosłości¹²³.
Umiarkowana hemofilia (1-5% normalnego poziomu czynnika) – pacjenci doświadczają krwawienia po urazach oraz mogą występować sporadyczne samoistne epizody krwawienia. Objawy zwykle ujawniają się, gdy dzieci są w wieku przedszkolnym¹².
Ciężka hemofilia (poniżej 1% normalnego poziomu czynnika) – pacjenci doświadczają częstych samoistnych krwawień, zwłaszcza do stawów i mięśni, które mogą występować bez wyraźnej przyczyny. Objawy często pojawiają się w pierwszych miesiącach życia¹²³.

Krwawienia do stawów i mięśni

Najbardziej charakterystycznym objawem hemofilii, szczególnie w jej ciężkiej postaci, są wylewy krwi do stawów (hemartrozy) i mięśni¹². Najczęściej dotknięte są stawy kolanowe, łokciowe i skokowe, a w dalszej kolejności barki, nadgarstki i biodra¹².

Krwawienie do stawu zwykle przebiega w następujących etapach¹²:

Początkowo pojawia się uczucie napięcia lub mrowienia w stawie, bez wyraźnego bólu. Staw może wydawać się nieznacznie obrzęknięty.
Z upływem czasu staw staje się ciepły przy dotyku. Pełne zginanie lub prostowanie stawu staje się bolesne, a obciążanie go trudne.
W miarę postępu krwawienia staw widocznie puchnie, ruch staje się ograniczony lub niemożliwy.
Staw przyjmuje pozycję lekko zgiętą, co ma na celu zmniejszenie ciśnienia wewnątrz stawu. Ból w tym momencie może być bardzo silny.

Wielokrotne krwawienia do tego samego stawu mogą prowadzić do trwałego uszkodzenia, rozwoju przewlekłej artropatii hemofilowej, bólu oraz ograniczenia ruchomości¹²³.

Zewnętrzne i wewnętrzne objawy krwawienia

Hemofilia może objawiać się krwawieniami zewnętrznymi oraz wewnętrznymi¹:

Objawy krwawienia zewnętrznego mogą obejmować¹²³:

Nadmierne i przedłużone krwawienie z ran, po zabiegach chirurgicznych lub ekstrakcji zęba
Liczne duże lub głębokie siniaki
Trudne do zatrzymania krwawienia z nosa
Krwawienie z dziąseł i jamy ustnej, trudne do zatrzymania po utracie zęba
Nadmierne krwawienie po szczepieniach lub innych iniekcjach

Objawy krwawienia wewnętrznego mogą obejmować¹²³:

Ból, obrzęk, ciepło i sztywność stawów
Krwawienia do mięśni powodujące obrzęk, ból i zaczerwienienie
Krew w moczu lub stolcu
Krwawienie w obrębie jamy brzusznej, objawiające się bólem brzucha, rozdęciem, obroną mięśniową lub sztywnością
Krwiaki w tkankach miękkich

Krwawienia w różnych grupach wiekowych

Objawy hemofilii różnią się w zależności od wieku pacjenta¹²:

U noworodków i niemowląt:

Przedłużone krwawienie po obrzezaniu
Krwiak podskórny po porodzie, szczególnie po trudnym porodzie
Nadmierne krwawienie po pobraniu krwi lub nakłuciu pięty
Niezwykłe obrzęki lub siniaki

U małych dzieci:

Liczne siniaki, gdy dziecko zaczyna raczkować i chodzić¹
Krwawienie z jamy ustnej podczas ząbkowania lub po drobnych urazach¹
Krwiaki pod skórą po najmniejszych urazach¹
Niepokój lub odmowa poruszania się w przypadku wylewu do stawu lub mięśnia¹

U starszych dzieci i dorosłych:

Bolesne krwawienia do stawów, szczególnie po aktywności fizycznej¹
Krwawienia do mięśni powodujące ból i ograniczenie ruchu¹
Przedłużone krwawienie po zabiegach chirurgicznych, ekstrakcji zęba lub urazach¹

Potencjalnie zagrażające życiu objawy krwawienia

Niektóre krwawienia w hemofilii mogą stanowić bezpośrednie zagrożenie dla życia i wymagają natychmiastowej interwencji medycznej¹²:

Krwawienie do mózgu – najpoważniejsze powikłanie krwotoczne, które może wystąpić nawet po niewielkim urazie głowy. Objawy obejmują¹²³:

Uporczywy lub nasilający się ból głowy
Wymioty, zwłaszcza powtarzające się
Senność lub zmiana zachowania
Nagłe osłabienie lub niezdarność
Podwójne widzenie
Drgawki lub napady padaczkowe
Sztywność karku
Zaburzenia równowagi i koordynacji

Krwawienie do szyi, gardła lub języka – może powodować obrzęk blokujący drogi oddechowe¹²:

Trudności w oddychaniu
Obrzęk języka lub gardła
Trudności w połykaniu

Krwawienie w obrębie jamy brzusznej – może prowadzić do znacznej utraty krwi i wstrząsu hipowolemicznego¹²:

Silny ból brzucha lub pleców
Rozdęcie brzucha
Krew w stolcu lub moczu
Bladość, tachykardia, hipotensja (w przypadku znacznej utraty krwi)

Hemofilia u kobiet

Chociaż hemofilia występuje głównie u mężczyzn, kobiety nosicielki genu hemofilii również mogą doświadczać objawów krwawienia, szczególnie jeśli mają obniżony poziom czynnika krzepnięcia¹²:

Łatwe powstawanie siniaków
Obfite i/lub długotrwałe krwawienia miesiączkowe (menorrhagia)
Przedłużone krwawienie po zabiegach chirurgicznych, ekstrakcji zęba lub urazach
Obfite krwawienie po porodzie (zwłaszcza opóźnione krwotoki poporodowe)
Niski poziom żelaza lub niedokrwistość z powodu przewlekłej utraty krwi
U kobiet z bardzo niskim poziomem czynnika krzepnięcia mogą występować również krwawienia do stawów i mięśni

Objawy hemofilii u kobiet są często przeoczane lub błędnie diagnozowane ze względu na przekonanie, że hemofilia dotyczy wyłącznie mężczyzn¹. Kobiety z hemofilią mogą również doświadczać większego niepokoju, depresji i zmęczenia w porównaniu z mężczyznami z tą chorobą¹.

Progresja choroby i powikłania

Bez odpowiedniego leczenia hemofilia może prowadzić do poważnych powikłań¹²:

Artropatia hemofilowa – przewlekły stan zapalny stawów spowodowany powtarzającymi się wylewami krwi. Charakteryzuje się przewlekłym rozrostem błony maziowej i zniszczeniem chrząstki, powodując ból, deformację stawów i ograniczenie ruchomości¹².
Uszkodzenie mięśni – powtarzające się krwawienia do mięśni mogą prowadzić do zaniku mięśni, przykurczów i upośledzenia funkcji¹.
Przewlekły ból – zarówno ostry ból podczas epizodów krwawienia, jak i przewlekły ból związany z artropatią hemofilową¹.
Inhibitory – u około 15-20% pacjentów z hemofilią A lub B rozwijają się przeciwciała (inhibitory), które neutralizują podawany czynnik krzepnięcia, co czyni leczenie znacznie trudniejszym¹².
Trwałe uszkodzenie neurologiczne – w przypadku krwawień do mózgu¹.

Według danych z 2012 roku z Światowej Federacji Hemofilii, przewidywana długość życia mężczyzn z hemofilią jest o około 10 lat krótsza niż mężczyzn bez hemofilii. Jednakże dzieci zdiagnozowane i leczone z powodu hemofilii mają normalną oczekiwaną długość życia¹. Wczesne rozpoczęcie leczenia profilaktycznego znacznie poprawia rokowanie i ogranicza rozwój powikłań¹.

Różnice w objawach w zależności od wieku i ciężkości choroby

Jak objawy hemofilii manifestują się w zależności od wieku pacjenta i stopnia ciężkości choroby¹²:

Ciężkość hemofilii	Niemowlęta i małe dzieci	Starsze dzieci	Dorośli
Łagodna (5-40% czynnika)	Często bez objawów Przedłużone krwawienie po obrzezaniu (rzadko)	Objawy zwykle niewidoczne Krwawienie po poważnych urazach	Krwawienie po operacjach lub usunięciu zęba Krwawienie po poważnych urazach U kobiet: obfite miesiączki
Umiarkowana (1-5% czynnika)	Przedłużone krwawienie po obrzezaniu Nasilone siniaki podczas nauki chodzenia	Krwawienie po mniejszych urazach Okazjonalne krwawienia do stawów Nasilone krwawienie po zabiegach stomatologicznych	Krwawienie po urazach Krwawienie po zabiegach chirurgicznych Sporadyczne samoistne krwawienia
Ciężka (<1% czynnika)	Krwawienie po obrzezaniu Krwiaki po minimalnych urazach Krwawienia wewnątrzczaszkowe podczas porodu (rzadko)	Częste samoistne krwawienia do stawów Krwiaki mięśniowe Przedłużone krwawienie z nosa Ból i obrzęk stawów	Samoistne krwawienia do stawów i mięśni Przewlekła artropatia hemofilowa Krwawienie po minimalnych urazach Ryzyko poważnych krwawień wewnętrznych

Rozpoznanie i monitorowanie hemofilii

Rozpoznanie hemofilii opiera się na wywiadzie rodzinnym, objawach klinicznych oraz badaniach laboratoryjnych¹. Ciężkie przypadki hemofilii są zwykle diagnozowane w pierwszym roku życia, podczas gdy łagodne formy mogą pozostać niewykryte aż do dorosłości, często ujawniając się dopiero po poważnym urazie lub zabiegu chirurgicznym¹².

Kluczowe dla diagnostyki hemofilii są badania czynników krzepnięcia, które mogą ujawnić niedobór czynnika oraz określić, jak ciężka jest choroba¹. Oznaczenie aktywności czynnika VIII (w hemofilii A) lub czynnika IX (w hemofilii B) pozwala na klasyfikację choroby jako łagodnej, umiarkowanej lub ciężkiej¹.

Regularne monitorowanie pacjentów z hemofilią jest niezbędne, szczególnie u dzieci z ciężką postacią choroby. Częstość wizyt kontrolnych zależy od ciężkości hemofilii – pacjenci z łagodną hemofilią są zwykle badani raz w roku, podczas gdy pacjenci z ciężką hemofilią wymagają częstszych kontroli¹.

Wraz z odpowiednim leczeniem, większość dzieci z hemofilią może prowadzić zdrowe i aktywne życie¹. Podstawą leczenia ciężkiej hemofilii jest zastępowanie brakującego czynnika krzepnięcia poprzez dożylne podawanie koncentratów czynnika. Leczenie może być stosowane zarówno w celu zatrzymania aktualnego epizodu krwawienia, jak i zapobiegawczo, aby zapobiec epizodom krwawienia¹.

Fizjoterapia odgrywa istotną rolę w leczeniu hemofilii, szczególnie jeśli wewnętrzne krwawienie uszkodziło stawy. W przypadku poważnych uszkodzeń może być konieczne leczenie chirurgiczne¹.

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Materiały źródłowe

#1 Symptoms of Haemophilia | The Haemophilia Society
https://haemophilia.org.uk/bleeding-disorders/haemophilia-a-and-b/symptoms-of-haemophilia/
People with haemophilia dont cut more easily or bleed more quickly than normal. They do bleed for longer. […] People with haemophilia commonly have prolonged bleeding following larger cuts or minor surgery such as having a tooth out or a circumcision. This can last for several days. […] In severe haemophilia, the main problem is internal bleeding into joints and muscles. We all damage our tissues in small ways in our everyday lives, and most people repair that damage automatically. With severe haemophilia, the tiny breaks in the blood vessels in joints and muscles may continue to bleed. These bleeds are sometimes described as spontaneous because its impossible to identify an obvious reason, such as a bump or a fall.
#1 Haemophilia
https://www.nhs.uk/conditions/haemophilia/
Symptoms of haemophilia include: bleeding for a long time after an injury, surgery, or having a tooth removed […] bruising easily […] joint pain, stiffness and swelling. Symptoms of haemophilia usually begin in early childhood, but sometimes symptoms may not be noticed until later. Haemophilia can be mild, moderate or severe. The less clotting factor you have, the more severe your symptoms will be. People with severe haemophilia need more treatment and are at more risk of life-threatening bleeding. Treatment reduces the risk of complications.
#1 Hemophilia B Overview: Symptoms, Genetics, Treatments | NBDF
https://www.bleeding.org/bleeding-disorders-a-z/types/hemophilia-b
People with hemophilia B bleed longer than other people. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts, dental procedures or trauma. How frequently a person bleeds and how serious the bleeds are depends on how much FIX is in the plasma, the straw-colored fluid portion of blood. […] Normal plasma levels of FIX range from 50% to 150%. Levels below 50%, or half of what is needed to form a clot, determine a persons symptoms. […] Mild hemophilia B. 6% up to 49% of FIX in the blood. People with mild hemophilia B typically experience bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.
#1 Hemophilia B Overview: Symptoms, Genetics, Treatments | NBDF
https://www.bleeding.org/bleeding-disorders-a-z/types/hemophilia-b
Moderate hemophilia B. 1% up to 5% of FIX in the blood. People with moderate hemophilia B tend to have bleeding episodes after injuries. Bleeds that occur without obvious cause are called spontaneous bleeding episodes. […] Severe hemophilia B. 1% of FIX in the blood. People with severe hemophilia B experience bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and muscles.
#1 Hemophilia – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK551607/
In cases of severe hemophilia, patients often present with internal bleeding, potentially impacting multiple organs. Joints can become painful, swollen, inflamed, and warm and have a restricted range of motion due to bleeding. The most commonly affected joints are the knees, elbows, ankles, shoulders, wrists, and hips. Spontaneous joint bleed incidence typically increases with age, reaching up to 60% by 65 years of age. Repetitive joint bleeds often lead to hemophilic arthropathies. […] Patients can present with occult abdominal bleeding with or without trauma, and organs like the liver, spleen, and kidneys can be involved. Typical symptoms of presentation are abdominal pain, especially over the hepatic or splenic area, abdominal distension with guarding or rigidity, melena, hematemesis, hematochezia, costovertebral angle tenderness, bladder spasms, suprapubic tenderness, or hematuria.
#1 Haemophilia Symptoms & Diagnosis – Irish Haemophilia Society
https://haemophilia.ie/about-bleeding-disorders/haemophilia/symptoms-diagnoses/
When babies are teething, this can often cause bleeding. This and bruises from falls are usually the first signs of haemophilia. Until the age of 2, bleeding into joints is uncommon. Most bleeds are surface bruises. When babies are learning to walk, they fall frequently and suffer many bumps and bruises. […] Common symptoms of haemophilia seen more frequently after the age of two are: bleeding into joints (knees, elbows, ankles, shoulders, hips, wrists in descending order of frequency), bleeding into soft tissues and muscles (the iliopsoas muscle around the hip, calf, forearm, upper arm, Achilles tendon, buttocks), bleeding in the mouth from a cut, bitten tongue or loss of a tooth (especially in children), blood in the urine (hematuria), surface bruising. […] A bleed into a joint, if untreated, can go on for days. The first sign is a feeling of tightness or an aura in the joint but no real pain. The joint may feel a little puffy to the touch. If untreated, the joint may become hot to the touch. Full range of motion of the joint can become very painful. If the bleed is in a lower limb, weight bearing becomes difficult.
#1 Haemophilia – Wikipedia
https://en.wikipedia.org/wiki/Haemophilia
Their first symptoms are often frequent and large bruises and haematomas from frequent bumps and falls as they learn to walk. […] Severe complications are much more common in cases of severe and moderate haemophilia. […] Complications may arise from the disease itself or from its treatment. […] Joint damage from haemarthrosis (haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis. […] Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. […] Haemophilic arthropathy is characterised by chronic proliferative synovitis and cartilage destruction. […] If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans.
#1 What Are the Signs and Symptoms of Hemophilia? | Hematology-Oncology Associates of CNY
https://www.hoacny.com/patient-resources/blood-disorders/what-hemophilia/what-are-signs-and-symptoms-hemophilia
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. […] The extent of bleeding depends on how severe the hemophilia is. […] Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. […] Males who have severe hemophilia may bleed heavily after circumcision. […] Bleeding can occur on the body’s surface (external bleeding) or inside the body (internal bleeding). […] Signs of external bleeding may include: […] Signs of internal bleeding may include: […] Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. […] At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding.
#1 Hemophilia – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327
Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you might bleed only after surgery or trauma. If your deficiency is severe, you can bleed easily for seemingly no reason. […] Signs and symptoms of spontaneous bleeding include: Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work; Many large or deep bruises; Unusual bleeding after vaccinations; Pain, swelling or tightness in your joints; Blood in your urine or stool; Nosebleeds without a known cause; In infants, unexplained irritability. […] A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. This rarely happens, but it’s one of the most serious complications that can occur. Signs and symptoms include: Painful, prolonged headache; Repeated vomiting; Sleepiness or lethargy; Double vision; Sudden weakness or clumsiness; Convulsions or seizures.
#1 Hemophilia A – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK470265/
Hemophilia encompasses a group of inherited disorders that alter blood coagulation. Classical hemophilia, also known as hemophilia A, is a hereditary hemorrhagic disorder resulting from a congenital deficit of factor VIII that manifests as protracted and excessive bleeding either spontaneously or secondary to trauma. […] Hemophilia, which means love (philia) of blood (hemo), manifests with prolonged and excessive bleeding either spontaneously or after insignificant trauma. […] A hereditary hemorrhagic disorder resulting from a congenital deficit or scarcity of factor VIII, hemophilia A, which is known as classical hemophilia, manifests as protracted and excessive bleeding either spontaneously or secondary to trauma. […] Severe hemophilia often manifests in the first months of life, whereas mild or moderate hemophilia will present later in childhood or adolescence, often incidentally or following trauma.
#1 Hemophilia A: Definition, Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/23197-hemophilia-a
People who have factor VIII levels between 1% and 5% have moderate hemophilia A and moderate symptoms. Moderate hemophilia A symptoms typically surface when children are toddlers. […] People who have less than 1% of factor VIII in their blood have severe hemophilia A and severe symptoms. Many times, hemophilia A symptoms appear as children are being born or, in the case of male babies, when they’re being circumcised. Other times, children develop symptoms a few months after theyâre born. Common symptoms include: Babies and toddlers may bleed from their mouths after minor injuries, like bumping their mouths on a toy. […] Babies and toddlers who bump their heads often develop goose eggs large round lumps on their heads. […] These symptoms may happen if babies and toddlers have internal bleeding into a muscle or joint. They may have areas on their bodies that look bruised and swollen, feel warm to your touch or cause pain when you gently touch the area. […] A hematoma is a mass of congealed blood that gathers under babies or toddlers skin. Babies and toddlers may develop hematomas after receiving an injection. […] Sometimes, bleeding may cause your child’s tongue to swell so much that it blocks their airway.
#1 Hemophilia: Causes, types, symptoms, and treatment
https://www.medicalnewstoday.com/articles/154880
Hemophilia is an inherited bleeding disorder when the blood does not clot as it should. This can result in spontaneous bleeding and bruising after surgery or other injuries. Signs of hemophilia include bruising easily, nosebleeds, and blood in urine or feces. […] Common signs of hemophilia include: bruising, hematomas, which is when there is bleeding into the muscle or soft tissues, bleeding from the mouth and gums, bleeding after a circumcision, blood in the stool, blood in the urine, nosebleeds that are frequent and difficult to stop, bleeding after vaccinations or other injections, bleeding into the joints. […] According to the National Organization for Rare Disorders, the severity of hemophilia can also affect symptoms. […] In mild cases, a person will most likely experience: spontaneous nose bleeds, bleeding from the mouth or gums, easy bruising or hematomas, excessive bleeding following dental or other surgical procedures or injury. Symptoms for people living with the mild form may not show until adulthood.
#1 Haemophilia
https://www.rch.org.au/kidsinfo/fact_sheets/Haemophilia/
A child with haemophilia will not bleed faster than a child without haemophilia, but will likely bleed for a longer period of time, meaning they may bleed more. […] Children with mild haemophilia usually only have bleeding problems after surgery, having a tooth removed or after a major injury. […] Children with severe haemophilia can develop bleeding or a bleed for no obvious reason and without a known injury. Young children with a joint or muscle bleed due to haemophilia might be unsettled or refuse to crawl or walk. […] Bleeding in the brain can cause vomiting, sleepiness, or seizures. If your child develops these symptoms or has a head injury, seek medical advice immediately and call 000. […] Treatment depends on the type and severity of haemophilia and the type of bleeding, injury or surgery. It can take place in the hospital or at home.
#1 Hemophilia – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK551607/
Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] Hemophilia, which means love (philia) of blood (hemo), is the most common severe hereditary hemorrhagic disorder. Both hemophilia A and B result from factor VIII and factor IX protein deficiency or dysfunction, respectively, and are characterized by prolonged and excessive bleeding after minor trauma or sometimes even spontaneously. […] Hemophilia usually presents as bleeding after minor trauma or as a spontaneous bleed. Bleeding symptoms often correlate with the degree of residual factor level, which is useful to classify hemophilia severity further. Patients with greater than 5% to 40% of factor activity of normal (mild hemophilia) often present with bleeding only after significant trauma or surgery. Spontaneous bleeding is uncommon in mild hemophilia. Typically the diagnosis is made incidentally or on routine presurgical laboratory testing. If 1% to 5% factor activity of normal is present (moderate hemophilia), bleeding usually presents after trauma, injury, dental work, or surgery. In moderate disease, recurrent joint bleeding may be present in up to 25% of cases, and the diagnosis usually gets delayed. If factor activity is less than 1% of normal (severe hemophilia), bleeding often presents spontaneously. Severe hemophilia usually manifests in the first few months of life, while mild or moderate hemophilia can present later in childhood or adolescence.
#1 Hemophilia (for Parents) | Nemours KidsHealth
https://kidshealth.org/en/parents/hemophilia.html
People with mild hemophilia (hee-muh-FIL-ee-uh) bleed longer than normal after an injury or surgery. […] People with severe hemophilia also might bleed for no reason at all. This type of bleeding, called spontaneous bleeding, usually happens into a joint. […] Symptoms of hemophilia vary, depending on how much clotting factor a person has and where the bleeding is: Bleeding in a joint can cause a „bubbly” feeling in the joint, followed by swelling, tenderness, stiffness, and trouble using the joint. […] Bleeding in a muscle can cause pain, swelling, warmth, and a bruise over the area. Babies and toddlers who have bleeding in a muscle or joint might be fussy or refuse to crawl or walk. […] Bleeding in the digestive system can cause black or bloody poop or blood in throw-up (vomit). […] Bleeding in the brain can cause a headache, vomiting, sleepiness, or seizures.
#1 Haemophilia Symptoms & Diagnosis – Irish Haemophilia Society
https://haemophilia.ie/about-bleeding-disorders/haemophilia/symptoms-diagnoses/
Those with moderate haemophilia can bleed less often as they have a small amount of clotting factor, and this is offers some protection from bleeding. These usually happen more often after minor trauma, such as a sports injury. Like severe patients, treatment taken regularly prevents or reduces damage occurring and most people receive prophylaxis regularly. […] Those who have mild haemophilia generally only experience bleeding problems after an obvious injury or an operation and many mild cases have only been diagnosed after, for example, a tooth extraction or surgery.
#1 Symptoms of hemophilia | Hemophilia
https://www.hemophilia.ca/symptoms-of-hemophilia/
Some of the following symptoms may occur in a person with bleeding in the brain: […] Persistent or increasing headache […] Repeated vomiting […] Sleepiness or a change in normal behaviour […] Sudden weakness or clumsiness of an arm or leg […] Stiffness of the neck or complaints of pain with neck movement […] Complaints of seeing double […] The development of crossed eyes […] Poor balance when walking, a lack of coordination […] Convulsions or seizures (fits). […] Any bleeding in a vital area is serious. Important examples are: […] bleeding in the neck, throat or tongue (this could block the airway) […] bleeding in the ileopsoas muscle across the front of the hip (this could pinch important nerves to the leg) […] bleeding in the forearm or calf (this could pinch important nerves to the hand or foot)
#1 Haemophilia symptoms in females – Haemophilia Foundation Australia
https://www.haemophilia.org.au/bleeding-disorders/women-with-bleeding-disorders/carrying-the-haemophilia-gene/haemophilia-symptoms-in-females/
Examples of having a bleeding tendency or symptoms in females may include: Bruising easily […] Heavy and/or long periods. This is called heavy menstrual bleeding or sometimes abnormal uterine bleeding or menorrhagia. It can lead to low iron levels or anaemia […] Bleeding or oozing for a long time after dental surgery or extractions, other surgery and medical procedures, injuries or accidents […] Heavy bleeding for extended time after childbirth (particularly with delayed or late postpartum haemorrhage) […] Females with very low clotting factor levels may also have internal bleeding into joints, muscles, organs and soft tissues. […] Heavy menstrual bleeding can lead to anaemia (low red blood cell count/low blood iron levels), with symptoms of fatigue, paleness, lack of energy and shortness of breath. […] Although these can be symptoms related to haemophilia, they can also be symptoms of a gynaecological disorder, so it is important to consult a gynaecologist. […] With diagnosis and appropriate treatment, these bleeding problems can usually be reduced or managed.
#1 Hemophilia in Women vs Men: Mental Health Symptoms Compared – Hematology Advisor
https://www.hematologyadvisor.com/features/hemophilia-in-women-vs-men-mental-health-symptoms/
Women with hemophilia may experience greater anxiety, depression, and fatigue, but similar levels of pain, distress, and overall quality of life compared with men with hemophilia, according to results of a cross-sectional study published in the journal Haemophilia. […] The depression, anxiety, and fatigue scores were significantly higher in women than men in both unadjusted and adjusted analyses. […] The study showed that 20% of women reported moderate or severe depression versus 13.2% in men. Women were more likely to self-report a diagnosis of depression (33.3% vs 20.2) and women were more likely to report anxiety (38.1% vs 11.4%). […] Even if the greater depression, anxiety, and fatigue are caused by the hemophilia, it is important to address these as they impact each womans journey and how they care for their hemophilia.
#1 Hemophilia | Conditions | UCSF Health
https://www.ucsfhealth.org/conditions/hemophilia
Severe hemophilia. The person has less than 1 percent factor level and experiences bleeding following an injury or surgery, and may have frequent spontaneous bleeding episodes into the joints and muscles. […] A person’s severity of hemophilia does not change over time, because factor level is determined by genetics.
#1 Talking to Doctors About Hemophilia Symptoms | MyHemophiliaTeam
https://www.myhemophiliateam.com/resources/talking-to-doctors-about-hemophilia-symptoms
Many members on MyHemophiliaTeam describe challenges in talking to their doctors about bleeding disorder symptoms. […] MyHemophiliaTeam members find that many doctors are unfamiliar with symptoms and complications of bleeding disorders. […] Pain is a common symptom of bleeding disorders, but one that is often misunderstood. A survey of MyHemophiliaTeam members showed that 57 percent experience pain, with only 38 percent feeling that pain was addressed by their healthcare providers. […] To MyHemophiliaTeam members, a knowledgeable doctor who will listen and take hemophilia symptoms seriously is valuable indeed. […] Members who have found knowledgeable doctors give others hope that good doctors are out there. […] Struggling to talk with doctors about symptoms is a common topic of conversation on MyHemophiliaTeam. […] Hemophilia Signs and Symptoms Bleeding is the best-known symptom of hemophilia, but it is not the only symptom. Pain, mobility […] One of the first symptoms of a bleeding disorder like hemophilia is often bruising easily.
#1 About Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/about/index.html
Common signs of hemophilia include […] Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles. […] Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma). […] Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth. […] Blood in the urine or stool. […] Frequent and hard-to-stop nosebleeds. […] About 15% to 20% of people with inherited hemophilia A or B develop an antibody (called an inhibitor) that stops the clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life.
#1 About Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/about/index.html
Hemophilia is usually an inherited bleeding disorder in which blood does not clot properly. This can lead to spontaneous bleeding (bleeding that occurs for no known reason) as well as bleeding following injuries or surgery. […] The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur, which can lead to serious health problems. […] Hemophilia can result in […] Bleeding within joints that can lead to chronic joint disease and pain; […] Bleeding in the head and sometimes in the brain, which can cause long term problems, such as seizures and paralysis; and […] Death, which can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.
#1 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
If you have hemophilia, youll need medical treatment for the rest of your life. How much treatment youll need depends on your condition type, severity and if you develop inhibitors. […] 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.
#1 Hemophilia A
https://www.webmd.com/children/hemophilia-a
The severity of hemophilia A doesn’t change. Mild, moderate, or severe disease will stay that way your whole life. If your cells can’t make clotting factor during childhood, they still won’t make it when you’re an adult. But your factor levels and how much you bleed can change slightly over time. […] Some people with hemophilia A have more bleeding episodes in childhood and during their teen years. By adulthood, these episodes happen less often. People with the mild form of the disease may not have any bleeding episodes until they’re adults. […] Severe disease can cause serious problems like brain bleeding and joint damage. Starting factor replacement therapy early can help prevent these problems. Staying at a healthy weight is another way to protect your joints and prevent complications.
#1 Hemophilia – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333
Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. […] Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. […] The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein. […] This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy. […] Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. Severe damage might require surgery. […] Have you noticed any unusual or heavy bleeding, such as nosebleeds or prolonged bleeding from a cut or vaccination? […] Are you or your child prone to developing large, deep bruises? […] Do you or your child have pain or warmth around joints?
#1 Hemophilia: MedlinePlus GeneticsLock
https://medlineplus.gov/genetics/condition/hemophilia/
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury. […] Variants in the F8 gene cause hemophilia A, while variants in the F9 gene cause hemophilia B. […] Variants in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The variants that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX. The variants involved in mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins.
#1 Haemophilia
https://www.rch.org.au/kidsinfo/fact_sheets/Haemophilia/
Children with mild haemophilia usually only need treatment when they have surgery, a tooth removed or after a major injury. Most children with severe haemophilia will require regular treatment from a young age to prevent and treat bleeding. […] Most children with severe haemophilia start regular treatment from a young age to prevent and treat bleeding. […] Children with haemophilia should not take aspirin or ibuprofen. Paracetamol is safe to use. […] Children diagnosed with haemophilia will have regular appointments at their HTC. Children with mild haemophilia are usually seen once per year. Children with severe haemophilia are seen more frequently. […] With effective treatment, most children with haemophilia can lead healthy and active lives.
#2 Haemophilia | The Haemophilia Society
https://haemophilia.org.uk/bleeding-disorders/haemophilia-a-and-b/
People with haemophilia take longer than normal for bleeding to stop. […] They may have bleeding into joints and muscles without having had an injury, so treatment is aimed at reducing spontaneous bleeding. […] Both types of haemophilia have the same symptoms. […] People with haemophilia don’t cut more easily or bleed more quickly than normal.
#2 Hemophilia A – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK470265/
Moderate or mild hemophilia, 0.02 to 0.05 IU/mL (2% to 5%) or 0.06 IU/mL to 0.40 IU/mL (6% to 40%), respectively, will bleed excessively after relatively insignificant trauma. […] The outlook for most patients with hemophilia A is guarded. Repeated transfusions of blood products and related factors are not benign events. Additionally, these patients are prone to bleeding, which can be life-threatening.
#2 Hemophilia: Types, Causes, Symptoms, and Diagnosis
https://www.healthline.com/health/hemophilia
Hemophilia is an inherited blood disorder in which your blood does not clot properly. This can cause you to bleed more easily and sometimes lead to excessive bleeding, even from minor cuts or injuries. […] The symptoms of hemophilia may vary based on the severity of the condition. […] In mild cases of hemophilia, you may only experience excessive bleeding after experiencing trauma, such as tooth extraction, vaccinations, surgery, or injury. […] In more severe cases, you may experience the following symptoms: frequent, difficult-to-stop nosebleeds, bruising, bleeding into the skin, blood in stool or urine, bleeding in gums or mouth, bleeding into the joints, bleeding into the muscle and soft tissue, hemorrhaging following childbirth. […] Symptoms of mild hemophilia usually only occur after an incident, so doctors may not diagnose it until you reach adulthood. In more severe cases, a doctor may diagnose the condition following a circumcision shortly after birth. […] Hemophilia C is generally considered to be a mild form of hemophilia, which means its symptoms and signs align with those of mild cases of A or B. […] The severity level of hemophilia can affect symptoms and their severity.
#2 Hemophilia | Conditions | UCSF Health
https://www.ucsfhealth.org/conditions/hemophilia
The most common symptom of hemophilia is bleeding, particularly into the joints and muscles. When a person with hemophilia is injured, he does not bleed faster than a person without hemophilia, but it takes longer for bleeding to stop. Bleeding also may start again several days after an injury or surgery. […] Other symptoms of hemophilia include easy bruising, prolonged nosebleeds or vomiting of blood. […] Hemophilia may occur in mild, moderate and severe forms, based on both the patient’s symptoms and the level or amount of clotting factor in the blood. […] Mild hemophilia. The person has 6 percent to 49 percent of the normal factor level, and usually bleeds only after serious injury, trauma or surgery. The first episode of bleeding may not occur until adulthood. […] Moderate hemophilia. The person has 1 percent to 5 percent of the normal factor level and has bleeding episodes after injuries, major trauma or surgery. He also may experience occasional bleeding without obvious cause, called spontaneous bleeding episodes.
#2 Hemophilia – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK551607/
Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] Hemophilia, which means love (philia) of blood (hemo), is the most common severe hereditary hemorrhagic disorder. Both hemophilia A and B result from factor VIII and factor IX protein deficiency or dysfunction, respectively, and are characterized by prolonged and excessive bleeding after minor trauma or sometimes even spontaneously. […] Hemophilia usually presents as bleeding after minor trauma or as a spontaneous bleed. Bleeding symptoms often correlate with the degree of residual factor level, which is useful to classify hemophilia severity further. Patients with greater than 5% to 40% of factor activity of normal (mild hemophilia) often present with bleeding only after significant trauma or surgery. Spontaneous bleeding is uncommon in mild hemophilia. Typically the diagnosis is made incidentally or on routine presurgical laboratory testing. If 1% to 5% factor activity of normal is present (moderate hemophilia), bleeding usually presents after trauma, injury, dental work, or surgery. In moderate disease, recurrent joint bleeding may be present in up to 25% of cases, and the diagnosis usually gets delayed. If factor activity is less than 1% of normal (severe hemophilia), bleeding often presents spontaneously. Severe hemophilia usually manifests in the first few months of life, while mild or moderate hemophilia can present later in childhood or adolescence.
#2 About Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/about/index.html
Common signs of hemophilia include […] Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles. […] Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma). […] Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth. […] Blood in the urine or stool. […] Frequent and hard-to-stop nosebleeds. […] About 15% to 20% of people with inherited hemophilia A or B develop an antibody (called an inhibitor) that stops the clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life.
#2 What Are Hemophilia A & B? Symptoms, Treatment, Causes & Test
https://www.emedicinehealth.com/hemophilia/article_em.htm
Hemophilia is a bleeding disorder in which blood isn’t able to clot normally resulting in abnormal, spontaneous, or excessive bleeding. […] Bleeding may occur spontaneously or following injury. […] With either disorder, you may show a mild form in which bleeding occurs only under severe stress, such as major injury. […] Moderate cases rarely will have spontaneous bleeding but will bleed after surgery or trauma. […] Severe cases will exhibit spontaneous bleedingâthat is, bleeding without any recognizable trauma. Spontaneous bleeding can occur in any part of your body, but it is usually in the joints of the fingers, wrists, feet, and spine. […] You cannot see bleeding into muscle tissue and joints if you have hemophilia. But you will have pain and may see swelling. […] Bleeding into joints is the most crippling aspect of hemophilia as well as the most common site. The disease most commonly affects the knee followed by the elbow, ankle, shoulder, and wrist.
#2 Symptoms of hemophilia | Hemophilia
https://www.hemophilia.ca/symptoms-of-hemophilia/
bleeding in joints, especially knees, ankles and elbows (repeated bleeds in joints can lead to loss of range of motion, muscle loss, and destruction of the joints themselves). […] A hemorrhage into a joint, if untreated, goes on for days. This is what happens. […] The first sign is a feeling of tightness in the joint but no real pain. The joint feels a little puffy to the touch. […] As the hours pass, the joint becomes hot to the touch. Fully flexing or extending the joint becomes painful. Weight bearing becomes difficult. By this time, the joint is visibly swollen. […] As the bleeding continues and the swelling increases, all movement in the joint is lost. The joint becomes fixed in a slightly flexed position in an attempt to relieve the interior pressure in the joint. The pain at this point can be excruciating. […] After several hemorrhages like this, the joint is permanently damaged.
#2 About Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/about/index.html
Hemophilia is usually an inherited bleeding disorder in which blood does not clot properly. This can lead to spontaneous bleeding (bleeding that occurs for no known reason) as well as bleeding following injuries or surgery. […] The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur, which can lead to serious health problems. […] Hemophilia can result in […] Bleeding within joints that can lead to chronic joint disease and pain; […] Bleeding in the head and sometimes in the brain, which can cause long term problems, such as seizures and paralysis; and […] Death, which can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.
#2 Hemophilia – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK551607/
In cases of severe hemophilia, patients often present with internal bleeding, potentially impacting multiple organs. Joints can become painful, swollen, inflamed, and warm and have a restricted range of motion due to bleeding. The most commonly affected joints are the knees, elbows, ankles, shoulders, wrists, and hips. Spontaneous joint bleed incidence typically increases with age, reaching up to 60% by 65 years of age. Repetitive joint bleeds often lead to hemophilic arthropathies. […] Patients can present with occult abdominal bleeding with or without trauma, and organs like the liver, spleen, and kidneys can be involved. Typical symptoms of presentation are abdominal pain, especially over the hepatic or splenic area, abdominal distension with guarding or rigidity, melena, hematemesis, hematochezia, costovertebral angle tenderness, bladder spasms, suprapubic tenderness, or hematuria.
#2 Haemophilia
https://www.rch.org.au/kidsinfo/fact_sheets/Haemophilia/
Haemophilia is a life-long bleeding disorder where the blood does not clot properly. It is caused by not having enough of a single blood-clotting protein (clotting factor VIII [8] or clotting factor IX [9]) in the blood. Haemophilia can be mild, moderate or severe depending on the level of clotting factor in the blood. […] Symptoms can vary depending on the severity of haemophilia and where the bleeding is. […] Symptoms of haemophilia can include: internal bleeding (bleeding inside the body), large or deep bruising, which is usually noticed when an infant starts to roll and crawl, bleeding into joints and muscles which causes swelling, pain and trouble using the affected area (usually an arm or leg), bleeding from the mouth (after injury), nosebleeds that are difficult to stop, bleeding in the brain.
#2 Symptoms of hemophilia | Hemophilia
https://www.hemophilia.ca/symptoms-of-hemophilia/
Some of the following symptoms may occur in a person with bleeding in the brain: […] Persistent or increasing headache […] Repeated vomiting […] Sleepiness or a change in normal behaviour […] Sudden weakness or clumsiness of an arm or leg […] Stiffness of the neck or complaints of pain with neck movement […] Complaints of seeing double […] The development of crossed eyes […] Poor balance when walking, a lack of coordination […] Convulsions or seizures (fits). […] Any bleeding in a vital area is serious. Important examples are: […] bleeding in the neck, throat or tongue (this could block the airway) […] bleeding in the ileopsoas muscle across the front of the hip (this could pinch important nerves to the leg) […] bleeding in the forearm or calf (this could pinch important nerves to the hand or foot)
#2 Hemophilia – Blood Disorders – Merck Manual Consumer Version
https://www.merckmanuals.com/home/blood-disorders/bleeding-due-to-clotting-disorders/hemophilia
When hemophilia is severe, serious episodes of bleeding occur and recur after minor injury or for no apparent reason. […] In severe hemophilia, the first bleeding episode often occurs during or immediately after delivery. The infant may develop a collection of blood under the scalp (cephalhematoma) or may bleed excessively during circumcision. […] Recurring bleeding into the joints and muscles can lead to crippling deformities. Bleeding can swell the base of the tongue until it blocks the airway, making breathing difficult. A slight bump on the head can trigger substantial bleeding in the brain or between the brain and the skull, causing brain damage and death.
#2 Hemophilia: Treatment, Preventing Bleeding and Daily Care
https://www.nationwidechildrens.org/conditions/hemophilia
Without these factors, blood will not clot well. […] A person with hemophilia has problems when a fibrin clot is needed to stop the bleeding. People with hemophilia do not have enough of either clotting factor 8 or 9. Because of this, the fibrin clot is not made or is so thin that the bleeding goes on. […] The person with hemophilia does not bleed faster than someone without hemophilia. However, the person with hemophilia will bleed longer. […] Remember that a person with a bleeding disorder will not bleed faster than anyone else. However, the bleeding will last longer if not treated. […] If your child has any of these symptoms of abdominal bleeding, call the doctor: Severe abdominal (stomach) pain with no explained cause, Severe back pain, Blood in the urine or stool. […] If your child has any of these complaints, he may have bleeding into a joint and will need clotting factor. Call the doctor right away.
#2 How Hemophilia Affects Women | Brown University Health
https://www.lifespan.org/be-well/how-hemophilia-affects-women
Hemophilia is a genetic disorder that affects blood clotting, causing excessive bleeding and bruising symptoms. […] Females who carry the gene for hemophilia can sometimes have symptoms. This is especially true for those women who have lower than expected levels of factor VIII or IX. […] Common symptoms experienced by hemophilia carriers include easy bruising, prolonged nosebleeds, bleeding with surgical or dental procedures, and heavy menstrual bleeding. Heavy or prolonged bleeding can lead to anemia, iron deficiency, and fatigue that may interfere with daily activities and quality of life. […] Carriers of hemophilia may require treatment to manage their symptoms. Heavy and prolonged menstrual bleeding can be treated with medications, such as birth control pills or other hormonal methods.
#2 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology
https://emedicine.medscape.com/article/779322-overview
Hemorrhage sites include joints (eg, knee, elbow), muscles, the central nervous system (CNS), and the gastrointestinal, genitourinary, pulmonary, and cardiovascular systems. Intracranial hemorrhage occurs most commonly in patients younger than 18 years and can be fatal. […] The hallmark of hemophilia is hemorrhage into joints. This bleeding is painful and leads to long-term inflammation and deterioration of the joint. […] Repeated hemarthroses lead to progressive synovial hypertrophy, hemosiderin deposition, fibrosis, and damage to cartilage, with subchondral bone-cyst formation. This results in permanent deformities, misalignment, loss of mobility, and extremities of unequal lengths. […] Approximately 30% of patients with severe hemophilia A develop alloantibody inhibitors that can bind FVIII. These inhibitors are typically immunoglobulin G (IgG), predominantly of the IgG4 subclass, that neutralizes the coagulant effects of replacement therapy. However, the inhibitors do not fix complement and do not result in the end-organ damage observed with circulating immune complexes.
#2 Data and Statistics on Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/data-research/index.html
Hemophilia is associated with spontaneous (unexplained) bleeding and excessive bleeding after injury. This can include repeated bleeding within joints that can lead to chronic joint disease. […] In both hemophilia A and B, the blood does not clot properly, which can lead to spontaneous internal bleeding (bleeding that occurs for no known reason) as well as excessive bleeding after injuries or surgery. Hemophilia can cause repeated bleeding within joints that can lead to chronic joint disease, pain, and mobility limitations. Hemophilia also poses a risk for bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis. Death can occur if the bleeding cannot be stopped. […] The extent of bleeding into the joints and other complications varies by the severity of the hemophilia (which is defined based on how low the level of clotting factors is in the blood).
#2 Hemophilia A – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK470265/
Hemophilia encompasses a group of inherited disorders that alter blood coagulation. Classical hemophilia, also known as hemophilia A, is a hereditary hemorrhagic disorder resulting from a congenital deficit of factor VIII that manifests as protracted and excessive bleeding either spontaneously or secondary to trauma. […] Hemophilia, which means love (philia) of blood (hemo), manifests with prolonged and excessive bleeding either spontaneously or after insignificant trauma. […] A hereditary hemorrhagic disorder resulting from a congenital deficit or scarcity of factor VIII, hemophilia A, which is known as classical hemophilia, manifests as protracted and excessive bleeding either spontaneously or secondary to trauma. […] Severe hemophilia often manifests in the first months of life, whereas mild or moderate hemophilia will present later in childhood or adolescence, often incidentally or following trauma.
#3 Hemophilia: Causes, types, symptoms, and treatment
https://www.medicalnewstoday.com/articles/154880
Hemophilia is an inherited bleeding disorder when the blood does not clot as it should. This can result in spontaneous bleeding and bruising after surgery or other injuries. Signs of hemophilia include bruising easily, nosebleeds, and blood in urine or feces. […] Common signs of hemophilia include: bruising, hematomas, which is when there is bleeding into the muscle or soft tissues, bleeding from the mouth and gums, bleeding after a circumcision, blood in the stool, blood in the urine, nosebleeds that are frequent and difficult to stop, bleeding after vaccinations or other injections, bleeding into the joints. […] According to the National Organization for Rare Disorders, the severity of hemophilia can also affect symptoms. […] In mild cases, a person will most likely experience: spontaneous nose bleeds, bleeding from the mouth or gums, easy bruising or hematomas, excessive bleeding following dental or other surgical procedures or injury. Symptoms for people living with the mild form may not show until adulthood.
#3 Haemophilia | Better Health Channel
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/haemophilia
People with mild haemophilia (5 40 per cent of normal clotting factor): usually only have bleeding problems after having teeth taken out, surgery or a bad injury or accident; might never have a bleeding problem. […] People with moderate haemophilia (1 5 per cent of normal clotting factor): might have bleeding problems after having teeth taken out, surgery or a bad injury or accident; may have bleeding problems after minor injuries, such as sporting injuries; rarely have a bleed for no obvious reason. […] People with severe haemophilia (less than 1 per cent of normal clotting factor): often have bleeds into joints, muscles and soft tissues; can have bleeds for no obvious reason; can have bleeds after surgery, dental work or injuries, including minor bumps or knocks. […] Most babies with haemophilia do not have bleeding problems at birth. However, some bleeding problems may appear at birth or soon after. Haemophilia may be suspected if babies have internal bleeding or unusual swelling or bruising after delivery; continue to bleed after a heel prick (or after circumcision, if this is performed); have excessive bruising after immunisation.
#3 Data and Statistics on Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/data-research/index.html
Hemophilia is associated with spontaneous (unexplained) bleeding and excessive bleeding after injury. This can include repeated bleeding within joints that can lead to chronic joint disease. […] In both hemophilia A and B, the blood does not clot properly, which can lead to spontaneous internal bleeding (bleeding that occurs for no known reason) as well as excessive bleeding after injuries or surgery. Hemophilia can cause repeated bleeding within joints that can lead to chronic joint disease, pain, and mobility limitations. Hemophilia also poses a risk for bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis. Death can occur if the bleeding cannot be stopped. […] The extent of bleeding into the joints and other complications varies by the severity of the hemophilia (which is defined based on how low the level of clotting factors is in the blood).
#3 What Is Hemophilia?
https://my.clevelandclinic.org/health/diseases/14083-hemophilia
Hemophilia happens when you dont have enough clotting factors to help control how much you bleed. People with hemophilia may bleed for no apparent reason. They may bleed more than normal after being injured or having surgery. Without clotting factors, you may have excessive or uncontrollable bleeding. […] The most significant symptom is unusual or excessive bleeding or bruising. People with hemophilia may develop large bruises after minor injuries. This is a sign of bleeding under their skin. They may bleed for an unusually long time, whether after surgery, after dental treatment or simply from a cut finger. They may start bleeding for no apparent reason, such as sudden nosebleeds. […] People with severe hemophilia often have spontaneous bleeding or bleeding for no apparent reason. People with moderate hemophilia who have serious injuries may bleed for an unusually long time. People with mild hemophilia may have unusual bleeding, but only after a major surgery or injury.
#3 Content – Health Encyclopedia – University of Rochester Medical Center
https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=90&contentid=P02313
Easy bleeding. A tendency to bleed from the nose, mouth, and gums with minor injury. Bleeding while brushing and flossing teeth or having dental work is often a sign of hemophilia. […] Bleeding into a joint (hemarthrosis). This can cause pain, immobility, and deformity if not treated. This is the most common site of complications due to hemophilia bleeding. If joint bleeds keep recurring, they can lead to chronic, painful arthritis and deformity. They can also make it hard to walk or move correctly. […] Bleeding into the muscles. Bleeding into the muscles can cause swelling, pain, and redness. Swelling from excessive blood in these areas can increase pressure on tissues and nerves in the area. This can cause permanent damage and deformity. […] Bleeding in the brain. This can happen from injury or on its own. Bleeding from injury, or spontaneously in the brain, is the most serious bleeding complication and can be life-threatening. Bleeding in or around the brain can occur from even a small bump on the head or a fall. Small bleeds in the brain can result in blindness, intellectual disability, and a variety of neurological deficits. It can lead to death if not spotted and treated right away. […] Other bleeding. Blood found in the urine or stool may also signal hemophilia. Baby boys born with severe hemophilia may have bleeding after a circumcision that lasts longer than normal.
#3 Haemophilia | nidirect
https://www.nidirect.gov.uk/conditions/haemophilia
The symptoms of haemophilia can be mild to severe, depending on the level of clotting factors you have. […] The main symptom is bleeding that doesn’t stop, also called prolonged bleeding. […] People with haemophilia may have: nosebleeds that take a long time to stop, bleeding from wounds that lasts a long time, bleeding gums, skin that bruises easily, pain and stiffness around joints, such as elbows, because of bleeding inside the body (internal bleeding). […] There’s a small risk people with haemophilia may have a bleed inside their skull. […] Symptoms of this include: a severe headache, a stiff neck, vomiting, a change in mental state, such as confusion, speaking difficulties, such as slurred speech, changes in vision, such as double vision, loss of co-ordination and balance, paralysis of some or all of the facial muscles. […] If haemophilia is suspected after your child’s born, a blood test can usually confirm the diagnosis.