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Hemophilia

Hemophilia is a heritable disease of abnormal or incomplete clotting. Hemophilia A is the most common hereditary disease associated with life-threatening bleeding [1]. Hemophilia B is a less common variant of this disease which occurs due to a deficiency of Christmas factor (FIX).

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Presentation

Hemophilia presents at birth or during childhood as episodes of uncontrollable bleeding from wounds and injuries. Several episodes of frequently occurring bleeding from gums, nose (epistaxis), etc and easy bruising are characteristic findings. Petechiae are characteristically absent. There is massive hemorrhage following trauma. Bleeding into joints, particularly as a result of trauma, is a common finding and is known as hemarthrosis. Hemophilic arthrosis is associated with acute pain during bleeding episodes and the presence of chronic pain caused by arthritic complications of repeated bleeding into joints [9].

Prolonged Bleeding
  • Menorrhagia was predominant (13.6%) followed by epistaxis (9%), gingivorrhagia (9%), and prolonged bleeding after tooth extraction (9%).[ncbi.nlm.nih.gov]
  • Prolonged bleeding is the main symptom. It is often first seen when the an infant is circumcised. Other bleeding problems usually show up when the infant starts crawling and walking. Mild cases may go unnoticed until later in life.[web.archive.org]
  • Prolonged bleeding is the main symptom. It is often first seen when an infant is circumcised. Other bleeding problems usually show up when the infant starts crawling and walking. Mild cases may go unnoticed until later in life.[web.archive.org]
  • Prolonged bleeding is the main symptom. It is often first seen when the infant is circumcised. Other bleeding problems usually show up when the infant starts crawling and walking. Mild cases may go unnoticed until later in life.[nlm.nih.gov]
Easy Bruising
  • The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream.[nlm.nih.gov]
  • The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. Excessive Bleeding The extent of bleeding depends on how severe the hemophilia is.[web.archive.org]
  • Several episodes of frequently occurring bleeding from gums, nose (epistaxis), etc and easy bruising are characteristic findings. Petechiae are characteristically absent. There is massive hemorrhage following trauma.[symptoma.com]
  • Individuals affected by bleeding disorders may experience easy bruising, prolonged nosebleeds, heavy menstrual bleeding, and prolonged and spontaneous bleeding into joints, muscles, and organs.[hfmich.org]
Spontaneous Hemorrhage
  • If the biological activity of the coagulation factor is below 1%, the hemophilia is severe and manifests as frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction (severe hemophilia[orpha.net]
  • If the biological activity of factor VIII is below 1%, the hemophilia is severe and manifests as frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction (severe hemophilia A; see this[orpha.net]
  • The clinical manifestation of AHA includes mostly spontaneous hemorrhages into skin, muscles and soft tissues, or mucous membranes.[doi.org]
  • -Mild hemophilia: -25% of cases -Spontaneous hemorrhages are rare -Deep muscle and joint bleeding are uncommon -Injury, trauma, surgery, and dental injury trigger bleeding -these symptoms are addressed the same as with individuals with severe hemophilia[physio-pedia.com]
Neonatal Hemorrhage
  • Rescue of fatal neonatal hemorrhage in factor V deficient mice by low level transgene expression. Thromb Haemost 2000; 83 (1) 70-77 41 Mann KG. How much factor V is enough?. Thromb Haemost 2000; 83 (1) 3-4 42 Duckers C, Simioni P, Spiezia L, et al.[doi.org]
Pain
  • METHODS: Pain and HRQoL were assessed via PRO instruments in US adult males with hemophilia A or B and a history of joint pain or bleeding.[ncbi.nlm.nih.gov]
  • METHODS: Adult males with hemophilia and a history of joint pain/bleeding completed a pain history and the patient-reported outcome instruments EQ-5D-5L, Brief Pain Inventory v2 Short Form (BPI), International Physical Activity Questionnaire (IPAQ), and[ncbi.nlm.nih.gov]
  • At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend. Swelling continues as bleeding continues.[web.archive.org]
  • As more blood pools in it and swelling occurs, the joint feels tight, may be hot to the touch and becomes painful to bend. Children may hold or protect the affected joint, or start limping or crawling.[hemophilia.org]
  • Prophylaxis improved function, quality of life, activity and pain but not joint structure by MRI. Prophylaxis improves function but must start before joint bleeding onset to prevent arthropathy.[ncbi.nlm.nih.gov]
Swelling
  • Hemophilia may cause deep-muscle bleeding that leads to swelling of a limb. The swelling may press on nerves and lead to numbness or pain. This may result in a reluctance to use the limb. Damage to joints.[web.archive.org]
  • Swelling of the membrane around a joint. Pain, swelling, and redness of a joint. Pressure on a joint from swelling, which can destroy the joint.[web.archive.org]
  • Large fluctuant swelling on his head was noted. He developed severe anemia and hypovolemia as a result of massive subgaleal hemorrhage. After successful treatment, the baby fully recovered.[ncbi.nlm.nih.gov]
  • As more blood pools in it and swelling occurs, the joint feels tight, may be hot to the touch and becomes painful to bend. Children may hold or protect the affected joint, or start limping or crawling.[hemophilia.org]
  • One sign is swelling in a baby's joints. Babies who are learning to crawl usually bump into things, but ordinarily this doesn't cause swelling in their joints.[web.archive.org]
Weakness
  • Symptoms to be aware of include: painful headache, stiff neck, vomiting, sleepiness, changed behavior, sudden weakness or balance issues, difficulty walking, double vision, convulsions and seizures.[hemophilia.org]
  • In general, poor quality of life of patients was 13.1%, 42.9% weak-to-moderate, 38.1% moderate-to-good and 6% good.[ncbi.nlm.nih.gov]
  • The signs and symptoms of bleeding in the brain include: Long-lasting, painful headaches or neck pain or stiffness Repeated vomiting Sleepiness or changes in behavior Sudden weakness or clumsiness of the arms or legs or problems walking Double vision[web.archive.org]
  • Weak muscles don't support the joints as well, making bleeding episodes more frequent. Kids and their parents should talk with the doctor about choosing a sport, but swimming, running, and bicycling are often recommended.[web.archive.org]
  • Signs and symptoms of bleeding in the brain are: bad headaches, neck pain, or stiffness, lasting a long time changes in behaviour changes in vision convulsions or seizures repeated vomiting sleepiness sudden weakness in the arms or legs There are no differences[medbroadcast.com]
Anemia
  • Here, we present the case of a term neonate who presented with worsening anemia in the setting of known hemolytic disease during the newborn period and was later found to have a spontaneous splenic rupture.[ncbi.nlm.nih.gov]
  • He developed severe anemia and hypovolemia as a result of massive subgaleal hemorrhage. After successful treatment, the baby fully recovered. Follow-up and further evaluation revealed hemophilia A as a result of a de novo mutation.[ncbi.nlm.nih.gov]
  • The increased tendency to bleeding usually becomes noticeable early in life and may lead to severe anemia or even death . Large bruises of the skin and soft tissue are often seen, usually following injury so trivial as to be unnoticed.[britannica.com]
  • A third risk to the hemophiliac client is the development of anemia due to excessive blood loss. Many years may go by before the body restores its necessary number of properly functioning blood cells.[massagemag.com]
  • Srikanth Seethala, Keith Barnes and Javier Corral, Acquired Factor VIII Inhibitor: A Rare Etiology for Bruisability and Anemia, Indian Journal of Hematology and Blood Transfusion, 29, 3, (178), (2013). M. FRANCHINI, M. MAKRIS, E. SANTAGOSTINO, A.[doi.org]
Limb Pain
  • These types of bleeding can lead to throwing up blood or passing blood in the stool, stroke, and sudden severe pain in the joints or limbs. Painful bleeding into the soft tissues of the arms and legs can lead to nerve damage.[genome.gov]
Vomiting
  • Symptoms to be aware of include: painful headache, stiff neck, vomiting, sleepiness, changed behavior, sudden weakness or balance issues, difficulty walking, double vision, convulsions and seizures.[hemophilia.org]
  • PATIENT CONCERNS: An 8y7m-old Chinese boy presented with half a day of right sided abdominal pain, fever, nausea, and vomiting.[ncbi.nlm.nih.gov]
  • The signs and symptoms of bleeding in the brain include: Long-lasting, painful headaches or neck pain or stiffness Repeated vomiting Sleepiness or changes in behavior Sudden weakness or clumsiness of the arms or legs or problems walking Double vision[web.archive.org]
  • Signs of bleeding in the brain may include changes in behavior, excessive sleepiness, persistent headaches and neck pain, double vision, vomiting, and convulsions or seizures. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]
Abdominal Pain
  • PATIENT CONCERNS: An 8y7m-old Chinese boy presented with half a day of right sided abdominal pain, fever, nausea, and vomiting.[ncbi.nlm.nih.gov]
  • Nevertheless this rare case must be considered in patients with coagulopathies presenting with abdominal pain. Prompt radiologic imaging and surgical consultation are of highest priority.[ncbi.nlm.nih.gov]
  • CASE PRESENTATION: A 58-year-old caucasian male with hemophilia A presented to the emergency room of another institution with abdominal pain, blood in the stool, and a history of diverticulosis and symptomatic hemorrhoids.[ncbi.nlm.nih.gov]
  • Signs and symptoms of GI involvement include: • Fever • Abdominal distention and pain • Melena (bloody stool) • Hip flexion contracture (iliopsoas muscle spasm due to retroperitoneal hemorrhage) • Hematemesis (vomiting blood) • Low groin/abdominal pain[physio-pedia.com]
Melena
  • Signs and symptoms of GI involvement include: • Fever • Abdominal distention and pain • Melena (bloody stool) • Hip flexion contracture (iliopsoas muscle spasm due to retroperitoneal hemorrhage) • Hematemesis (vomiting blood) • Low groin/abdominal pain[physio-pedia.com]
Hematemesis
  • Signs and symptoms of GI involvement include: • Fever • Abdominal distention and pain • Melena (bloody stool) • Hip flexion contracture (iliopsoas muscle spasm due to retroperitoneal hemorrhage) • Hematemesis (vomiting blood) • Low groin/abdominal pain[physio-pedia.com]
Bleeding Gums
  • Spontaneous bleeding can cause the following: blood in the urine blood in the stool deep bruises large, unexplained bruises excessive bleeding bleeding gums frequent nosebleeds pain in the joints tight joints irritability (in children) The following symptoms[healthline.com]
  • 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[nhs.uk]
  • We assessed whether patients ever reported spontaneous bleeding and bleeding after trauma: bruising, nose bleeds, gum bleedings, and joint bleeds.[bloodjournal.org]
Oral Bleeding
  • These medications are useful in oral bleeding in either hemophilia A or B. You may be given an IV clotting factors. You are given purified Factor VIII(8) or IX (9) depending on the type of hemophilia you have.[emedicinehealth.com]
Hypotension
  • Precautions Injection contains benzyl alcohol as preservative and not recommended for use in newborns; rapid IV administration may induce hypotension, bradycardia, and/or arrhythmia; do not administer concomitantly with prothrombin complex concentrates[web.archive.org]
Tachycardia
  • The patient may have signs of pallor, fatigue, and tachycardia with excessive bleeding.[web.archive.org]
Jaundice
  • Look for jaundice, other signs of liver failure (eg, cirrhosis from viral infection), and signs of opportunistic infections in patients who are HIV seroconverted.[web.archive.org]
  • Most people can safely return to work after the jaundice clears, even if their liver function test results aren’t quite normal. Acute viral hepatitis symptoms can range from minor flu-like illness to liver failure.[arizonahemophilia.org]
Liver Tenderness
  • Symptoms may include fatigue, nausea, vomiting, muscle and joint aches, liver tenderness and enlargement and/or weight loss. Hepatitis can be acute (lasting less than six months) or chronic. It occurs commonly throughout the world.[arizonahemophilia.org]
Purpura
  • 084648 0854040 cr.png 645 484; 211 KB Ultrasound Scan ND 084648 0856050 cr.png 643 482; 183 KB हिमोफोलिया१.jpg 2 592 1 944; 664 KB हिमोफोलिया२.jpg 2 592 1 944; 658 KB Estratto da " " Categorie : Congenital diseases and disorders Coagulation defects, purpura[commons.wikimedia.org]
  • Primary Hemostasis – Platelet aggregation forms an initial plug (immediate) – Deficiencies tend to cause superficial bleeds (i.e petechiae, ecchymosis, & purpura) Secondary Hemostasis – Clotting Factors help support the plug (delayed) – Deficiencies tend[rebelem.com]
  • カテゴリ 血液疾患 階層分類 ヒト疾患 [BR: jp08402 ] 循環器系疾患 血液疾患 H00219 血友病 ICD-11 による疾患分類 [BR: jp08403 ] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura or other haemorrhagic or related conditions Coagulation defects Congenital or constitutional[genome.jp]
  • Rituximab chimeric anti-CD20 monoclonal antibody treatment for adults with chronic idiopathic thrombocytopenic purpura. Blood 2001; 98: 952-957. 84 Wiestner A. et al. Rituximab in the treatment of acquired factor VIII inhibitor.[doi.org]
  • Coagulopathy Purpura secondary to clotting disorders World Federation of Hemophilia Haemophilia at Curlie[en.wikipedia.org]
Arthritis
  • […] arthropathy, and knee/hip replacement among workers with hemophilia after multivariate adjustment, with hazard ratios (95% CI) of 4.60 (2.81-7.53), 4.03 (3.34-4.87), and 1.29 (1.10-1.41), respectively.Disorder of joints, hemophilia-related arthritis[ncbi.nlm.nih.gov]
  • Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising.[nlm.nih.gov]
  • These joint hemorrhages culminate in a severe arthropathy, with signs of inflammation (as in rheumatoid arthritis) as well as degenerative damage (as . . .[content.nejm.org]
  • If bleeding occurs frequently and you don't receive adequate treatment, the irritation may lead to destruction of the joint or to the development of arthritis. Infection.[web.archive.org]
Joint Deformity
  • Insufficient or incorrect treatment of recurrent hemarthroses and hematomas leads to motor impairment with severe disability associated with stiffness, joint deformation and paralysis.[orpha.net]
  • If joint bleeds are not promptly and adequately treated, joint deformity can occur. Bleeding in a joint can cause scarring in the joint. With repeated bleeds, the joint may lose mobility and result in a permanent limp.[webmd.com]
  • Repeated bleeding into the joints and muscles eventually causes permanent damage, such as joint deformity and reduced mobility. Bleeding in the brain is a very serious problem for those with severe hemophilia, and may be life-threatening.[my.clevelandclinic.org]
Arthralgia
  • The most common adverse reactions reported (incidence 10%) were injection site reactions, headache, and arthralgia.[fda.gov]
  • Common side effects of Hemlibra include injection site reactions, headache, and joint pain (arthralgia).[fda.gov]
  • In pooled data from the phase III HAVEN programme (n 373), the most common adverse reactions occurring in 10% or more of people treated with Hemlibra were injection site reactions (20%), joint pain (arthralgia; 15%) and headache (14%).[roche.com]
  • Adverse events (AEs) occurring in 5% or more of patients treated with emicizumab were local injection site reactions, headache, fatigue, upper respiratory tract infection and joint pain (arthralgia).[roche.com]
Joint Tenderness
  • tenderness decreased ROM focal neurological deficits muscle pain (bleeding most commonly in quadriceps, hamstrings, iliopsoas, biceps, triceps) Imaging Radiographs recommended views of knee AP, lateral, oblique and skyline general findings epiphyseal[orthobullets.com]
  • The joint most commonly affected is the knee “followed by the ankle, elbow, hip, shoulder, and wrist [2] .” [1] Acute hemarthrosis symptoms include: • swelling • pain • heat around jointtenderness • decreased motion • tingling, aura, or prickling sensation[physio-pedia.com]
Joint Effusion
  • […] general findings epiphyseal overgrowth generalized osteopenia fractures irregularity of the joint space joint effusion specific findings squaring of patella and femoral condyles (Jordan's sign) ballooning of distal femur widening of intercondylar notch[orthobullets.com]
Epistaxis
  • Recurrent, heavy nosebleeds, or epistaxis, without apparent cause are another symptom. Minor cuts that don’t clot or that stop and then start again also can occur.[hemophilia.org]
  • Menorrhagia was predominant (13.6%) followed by epistaxis (9%), gingivorrhagia (9%), and prolonged bleeding after tooth extraction (9%).[ncbi.nlm.nih.gov]
  • Several episodes of frequently occurring bleeding from gums, nose (epistaxis), etc and easy bruising are characteristic findings. Petechiae are characteristically absent. There is massive hemorrhage following trauma.[symptoma.com]
  • […] patients Factor Level: Option A: The patient knows their factor level Option B: Patient Does Not Know their factor level ( If the patient does not know their factor level assume 0% ) Severity of Bleed Mild to Moderate – Soft Tissue, Muscle, Hemarthrosis, Epistaxis[rebelem.com]
Hematuria
  • Hematuria is frequent in hemophilia. Hematuria in hemophilia is generally considered benign and manageable with conservative therapy; however, severe hematuria requiring surgical therapy has rarely been reported.[ncbi.nlm.nih.gov]
  • CONCLUSION: Caution is necessary if hematuria B requires administration of rFVIIa. US color doppler renal imaging before and after drug administration should be sufficient as an early warning.[ncbi.nlm.nih.gov]
  • Spontaneous hematuria is a fairly frequent and highly characteristic sign of the disorder.[orpha.net]
  • Spontaneous hematuria is a fairly frequent and highly characteristic sign of the disorder. Etiology Hemophilia A is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII.[orpha.net]
  • Bleeding from the Urinary Tract (Hematuria) What Are the Causes of Blood in Urine? The causes of gross and microscopic hematuria are similar and may result from bleeding anywhere along the urinary tract.[medicinenet.com]
Headache
  • Symptoms to be aware of include: painful headache, stiff neck, vomiting, sleepiness, changed behavior, sudden weakness or balance issues, difficulty walking, double vision, convulsions and seizures.[hemophilia.org]
  • The signs and symptoms of bleeding in the brain include: Long-lasting, painful headaches or neck pain or stiffness Repeated vomiting Sleepiness or changes in behavior Sudden weakness or clumsiness of the arms or legs or problems walking Double vision[web.archive.org]
  • The most common adverse reactions reported (incidence 10%) were injection site reactions, headache, and arthralgia.[fda.gov]
  • Common side effects of Hemlibra include injection site reactions, headache, and joint pain (arthralgia).[fda.gov]
  • The most common side effect observed for Idelvion was headache. Idelvion is manufactured by CSL Behring, headquartered in King of Prussia, Pennsylvania. The FDA, an agency within the U.S.[fda.gov]
Seizure
  • Symptoms to be aware of include: painful headache, stiff neck, vomiting, sleepiness, changed behavior, sudden weakness or balance issues, difficulty walking, double vision, convulsions and seizures.[hemophilia.org]
  • […] symptoms of bleeding in the brain include: Long-lasting, painful headaches or neck pain or stiffness Repeated vomiting Sleepiness or changes in behavior Sudden weakness or clumsiness of the arms or legs or problems walking Double vision Convulsions or seizures[web.archive.org]
  • Signs of bleeding in the brain may include changes in behavior, excessive sleepiness, persistent headaches and neck pain, double vision, vomiting, and convulsions or seizures. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]
  • 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 Death can occur if the bleeding cannot[web.archive.org]
Intracranial Hemorrhage
  • However, as he suffered from intracranial hemorrhage at the age of 1 year, he underwent first ITI at the age of 1 year. Unfortunately, this failed to reduce the level of the inhibitor, and this strategy was stopped after 2 years.[ncbi.nlm.nih.gov]
  • Brain bleeds, or intracranial hemorrhage (ICH), are serious. They can occur spontaneously or after trauma.[hemophilia.org]
  • Intracranial hemorrhage is a life-threatening hemorrhage with a lifetime risk of 2-8%, accounting for one third of deaths due to hemorrhage.[web.archive.org]
  • Patients bleed into tissues (eg, hemarthroses, muscle hematomas, retroperitoneal hemorrhage) following minimal trauma; fatal intracranial hemorrhage may occur.[merckmanuals.com]
  • Intracranial hemorrhage (ICH) is the most common noninfectious cause of death in hemophiliacs. A history of trauma may be part of the presentation but severe hemophiliacs are at high risk for atraumatic ICH.[rebelem.com]
Lethargy
  • Intracranial hemorrhage (bleeding into the brain or skull) can lead to symptoms such as nausea , vomiting , and/or lethargy, and can lead to death. Increased bleeding after surgery or trauma is characteristic of hemophilia.[medicinenet.com]
  • Other signs of internal bleeding include: red or tea-colored urine (pee), called hematuria black or bloody feces (poop) blood in vomit after a head injury, headache, vomiting, lethargy (sleepiness), or seizures Diagnosis Few babies are diagnosed with[kidshealth.org]
  • Other signs of internal bleeding include: red or tea-colored urine (pee), called hematuria black or bloody feces (poop) blood in vomit after a head injury , headache, vomiting, lethargy (sleepiness), or seizures Diagnosis Few babies are diagnosed with[kidshealth.org]
  • Intracranial hemorrhage (bleeding into the brain or skull) can lead to symptoms such as nausea, vomiting, and/or lethargy, and can lead to death. Increased bleeding after surgery or trauma is characteristic of hemophilia.[medicinenet.com]
Irritability
  • If bleeding occurs frequently and you don't receive adequate treatment, the irritation may lead to destruction of the joint or to the development of arthritis. Infection.[web.archive.org]
  • Spontaneous bleeding can cause the following: blood in the urine blood in the stool deep bruises large, unexplained bruises excessive bleeding bleeding gums frequent nosebleeds pain in the joints tight joints irritability (in children) The following symptoms[healthline.com]
  • As the surfaces roughen, irritation and the number of bleeds can increase. This cycle can lead to chronic joint damage that may require surgery to remove the damaged joint tissue.[kidshealth.org]

Workup

Laboratory Tests:

  • Complete blood count
  • Prothrombin time
  • Activated partial thromboplastin time (APTT)
  • INR and clotting factors assay
  • Screening transfusion-associated diseases like HIV
  • Blood hematocrit and serum ferritin levels

Imaging

Imaging studies are not required for diagnosing hemophilia. However, in case of hemarthrosis, radiography and CT scans may be performed to visualize the hematoma.

Test results

A competent history is generally sufficient to suspect hemophilia and the diagnosis can be confirmed with the help of laboratory tests. The subtype of this disease is also determined to begin appropriate treatment.

Prothrombin Time Normal
  • In cases of moderate haemophilia symptoms are variable which manifest along a spectrum between severe and mild forms.In both haemophilia A and B, there is spontaneous bleeding but a normal bleeding time, normal prothrombin time, normal thrombin time,[en.wikipedia.org]

Treatment

Prophylactic treatment

Prophylactic treatment may be begun right after a child has been diagnosed of hemophilia. It can be started at as young as the first year of age. Prophylaxis, which includes administration of FVIII (or FIX) in regular doses of carefully calculated amounts, has been shown in many studies to prevent or at least reduce the progression of damage to target sites, such as joints [10].

Pharmacological treatment

Previously fresh frozen plasma and cryoprecipitate were used to treat this condition but now various concentrates of FVIII/FIX are available and have become the treatment of choice. Inhibitors of antibodies against FVIII/FIX can also be given as adjunct therapy to promote optimum effect of the administered FVIII/FIX. Although replacement therapy with plasma-derived or recombinant FVIII is proven to be life-saving for patients with Hemophilia A , such therapy is a life-long treatment rather than a cure for the disease [3]. Administration of desmopressin or DDAVP, instead of FVIII is an effective treatment for mild to moderate hemophilia.

Prognosis

Hemophilia persists for life. It does not necessarily progress or worsen, but it tends to stay all the same. Treatment and appropriate management can help reduce bleeding episodes and promote a long, healthy life. Mortality is associated with hemorrhage and chronic systemic infections like that from HIV or Hepatitis virus. Indeed, AIDS is the most common cause of death in patients with severe hemophilia [8].

Etiology

Hemophilia A results from an insufficiency of clotting factor VIII (FVIII) [3]. The insufficiency of the factor could be due to point mutations in factor VIII that may impair the proper function of the clotting protein or due to an inversion in the X chromosome that leads to complete loss of production of FVIII.

Hemophilia B is also an X-linked recessive disorder which results in decreased production or, in severe cases, complete absence of clotting factor IX. This disease is also known as Christmas disease, after the first patient identified with this condition. It is also due to mutations in the gene controlling the FIX or the X chromosome itself.
Acquired hemophilia is a very rare idiopathic subtype of this disease and it usually occurs in immunocompromised patients.

Epidemiology

Incidence

According to the World Federation of Hemophilia, the ratio of hemophilia A is 1:10,000 live births and 1:50,000 live births for hemophilia B. Hemophilia A is the most common X-linked disease in the world.

Age

Hemophilia is an inherited disorder so it usually presents at birth or early life. Acquired hemophilia occurs in immunocompromised patients so it can occur at any age.

Sex

Hemophilia is an X-linked disorder so it is much more common in males than in females. However, females are usually asymptomatic or mildly symptomatic carriers. A study revealed that 5 out of a group of 55 mild hemophiliacs were females [4].

Sex distribution
Age distribution

Pathophysiology

Hemophilia A

Hemophilia A is a heritable disorder characterized by deficiency of clotting factor VIII (FVIII), which predisposes patients to bleeding events [5]. It is the most common type, accounting to 80% of hemophilia cases. FVIII acts directly on FIX in the intrinsic pathway of the coagulation cascade to enable clotting and a deficiency of FVIII will lead to an inability of this pathway to proceed, resulting in bleeding dyscrasias.

Hemophilia B

Hemophilia B is an X-linked genetic disease caused by mutation of the gene for clotting factor IX (FIX). It has an incidence of approximately 1 every 30,000 male births in all populations and ethnic groups. It may lead to spontaneous bleeding episodes in severe cases which may be life threatening. If it is left untreated, most patients die from bleeding complications before they reach 25 years of age [6].

Acquired hemophilia

Acquired hemophilia is an extremely rare bleeding disorder caused by autoantibodies against factor VIII (FVIII), in patients without any previous history of hemophilia. Spontaneous bleeding in various sites of the body is the most common clinical presentation of this condition [7]. It is usually idiopathic but it can be associated with adverse drug reactions or vascular disease.

Classification based on severity

On the basis of how severe the disease is, it can be classified into 3 subtypes:

  • Mild hemophilia: FVIII/FIX between 6% and 50% of normal levels.
  • Moderate hemophilia: FVIII/FIX between 1% and 5% of normal levels.
  • Severe hemophilia: FVIII/FIX less than 1% of normal levels.

Prevention

The disease itself cannot be prevented from occurring, however, its prognosis can be significantly altered with the aid of medication and joint-strengthening exercise. Prophylactic treatment can also help reduce bleeding episodes.

Summary

Hemophilia is a hematological disorder characterized by a partial or complete deficiency of clotting factors VIII or Christmas factor (FIX) [2]. It is an X-linked recessive disorder that presents as profuse bleeding and hematoma formation due to an inability to clot blood. Hemophilia itself is not very common but its first type, called Hemophilia A, is the world’s most common X-linked coagulation disorder.

Patient Information

Definition

Hemophilia is an inherited disease that results in an inability of the blood to properly clot.

Cause

It is due to mutations in the genes or chromosome controlling the clotting factors (factor VIII and factor IX). Due to mutations, a deficiency of clotting factor VIII, resulting in hemophilia A, or factor IX, resulting in hemophilia B, occur. As a consequence of this deficiency, the blood fails to coagulate after trauma, injuries and even the regular wear and tear of the body.

Signs and symptoms

The disease presents as profuse bleeding and massive swelling particularly of joints after trauma. Other symptoms include frequent episode of bleeding from gums, nose and mild cuts, and easy bruising.

Diagnosis

Hemophilia can be easily confused with severe deficiency of vitamin K or another bleeding disorder called von Willebrand disease. Diagnosis is made based on the history, clinical examination and laboratory tests.

Treatment

Treatment includes lifelong administration of FVIII/FIX depending upon the subtype, or other similarly acting drugs like desmopressin. Gene therapy can also be performed.

References

Article

  1. Castaldo G et al: Hemophilia A: molecular insights. Clin Chem Lab Med 45:450,2007 
  2. Lobet S, Hermans C, Lambert C. Optimal management of hemophilic arthropathy and hematomas. J Blood Med. 2014 Oct 17;5:207-18. 
  3. Fomin ME, Togarrati PP, Muench MO. Progress and challenges in the development of a cell-based therapy for hemophilia A. J Thromb Haemost. 2014 Oct 8. 
  4. Venkateswaran L, Wilimas JA, Jones DJ, Nuss R. Mild hemophilia in children: prevalence, complications, and treatment. J Pediatr Hematol Oncol. Jan-Feb 1998;20(1):32-5
  5. Ferreira AA, Leite IC, Bustamante-Teixeira MT, Guerra MR. Hemophilia A in Brazil - epidemiology and treatment developments. J Blood Med. 2014 Sep 23;5:175-84. 
  6. Miguelino MG, Powell JS. Clinical utility and patient perspectives on the use of extended half-life rFIXFc in the management of hemophilia B. Patient Prefer Adherence. 2014 Aug 8;8:1073-83. 
  7. Rattanathammethee T1, Norasetthada L, Tantiworawit A, Rattarittamrong E, Hantrakool S, Chai-Adisaksopha C. Acquired hemophilia A in the HIV-infected patient: a case report and literature review. Blood Coagul Fibrinolysis. 2014 Sep 25 
  8. Chorba TL, Holman RC, Strine TW, Clarke MJ, Evatt BL. Changes in longevity and causes of death among persons with hemophilia A. Am J Hematol. Feb 1994;45(2):112-21 
  9. Humphries TJ, Kessler CM. Managing chronic pain in adults with haemophilia: current status and call to action. Haemophilia. 2014 Oct 2.  
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Last updated: 2017-08-09 17:47