The most widely used instrument is the world federation of hemophilia wfh physical joint. Radiological assessment of haemophilic arthropathy with emphasis on mri. Imaging plays a critical role in the evaluation of progression and complications of hemophilic arthropathy, which directly affects. The management of the haemophilic arthropathy frontiers in. Petrini and colleagues reported the prevention of hemophilic arthropathy when prophylaxis was initiated before patients reached 2. Hemophilia is an inheritable xlinked recessive disease 6, with 70% considered familial and 30% considered sporadic 8. It is only considered when other less invasive and equally effective procedures fail. Keith hoots, md director, division of blood diseases and.
It is caused by a deficiency in either coagulation factor viii in hemophilia a classic hemophilia or factor ix in hemophilia b christmas disease. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Radiological evaluation of hemophilic arthropathy request pdf. Anterior and posterior ankle softtissue density corresponding to the synovial proliferation on mri.
Guidelines for the management of hemophilia 2nd edition prepared by the treatment guidelines working group, on behalf of the world federation of hemophilia wfh dr. A radiologic classification of hemophilic arthropathy. Arthritis in people with hemophilia is caused by frequent or inadequately treated bleeding into joints. Today a wide variety of radiologic imaging studies are used to evaluate hemophilic arthropathy, including ultrasound, ct scan, and magnetic resonance imaging mri.
Management of haemophiliac arthropathy 20720 1 management of haemophiliac arthropathy orthopaedic point of view dr. Jul 23, 2014 the intervention was carried out during twelve weeks, performing evaluations before and after treatment, and six months of finalizing this. Hemophilia is the oldest known bleeding disorder and is a disease almost exclusively of males because the defective gene is found on the x chromosome. Nuss department of radiology, university of colorado health sciences center, denver, colorado, usa. Patients with high titre inhibitors are at great risk for the development of joint disease and present the greatest therapeutic challenges when joint surgery is needed. Repeated bleeding episodes may lead to degenerative arthropathy, that is the most frequent complication in patients with both severe and moderate hemophilia 4,5,6,7,8. Radiology teaching files university of rochester medical. Magnetic resonance imaging mri is the most accurate imaging modality for assessing hemophilic arthropathy and may have a significant impact on patient. There are changes of osteoarthritis of both knees in a 37 yearold. While plain films are adequate for diagnosis, the increased sensitivity of magnetic resonance imaging allows for early detection and accurate assessment of the extent of involvement. Hemarthrosis causes a chemical reaction between blood and the synovium and cartilage, leading to pannus formation and cartilage erosion. It may be the most common complication of severe hemophilia.
Order your resources today from wisepress, your medical bookshop. Jcm free fulltext ultrasound for early detection of. However, these are also the least frequent sites of bleeding hemophilic arthropathy ha is most common in the knees, ankles, and elbows. The age of the patient should raise the diagnosis of secondary osteoarthritis. Numerous and frequentlyupdated resource results are available from this search.
Imaging in hemophilia plays an important role in establishing the diagnosis of joint. Hemophilic arthropathy is the most important cause of morbidity in patients with. Fifteen patients with hemophilia, 14 of whom had hemophilic arthropathy, were examined with magnetic resonance mr imaging to determine if it could be used to assess hemophilic arthropathy, especially synovial hypertrophy and the status of the articular cartilage. There is epiphyseal enlargement of the radial head, loss of joint space and a subtle hemarthrosis indicated by displacement of the posterior fat. It is usual for the same joint to be repeatedly involved. Hemophilia is a hematological disorder characterized by a partial or complete deficiency of clotting factor viii. An awardwinning, radiologic teaching site for medical students and those starting out in radiology focusing on chest, gi, cardiac and musculoskeletal diseases containing hundreds of lectures, quizzes, handout notes, interactive material, most commons lists and pictorial differential diagnoses. The diagnosis is generally made clinically and con. Imaging plays a critical role in the evaluation of progression and complications of hemophilic arthropathy. The hemophilia ultrasound project hup the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
Thirtyfive joints of the appendicular skeleton were imaged. Hemophilia c is very rare and is much more mild that hemophilia a or b. Dr hytham nafadydr hytham nafadyhemophiliahemophilia 2. Haemophilic arthropathy refers to permanent joint disease occurring in hemophilia sufferers as a longterm consequence of repeated hemarthrosis. Although the widespread use of prophylaxis has been able to significantly reduce the onset of arthropathy, it has been shown that a nonnegligible percentage of patients develop degenerative changes in their joints despite this type of treatment. Starts manifesting after child is ambulant and must be included in the dd of acute painful swelling of a single joint in young males as inadvertent needle aspiration is hazardous. Hemophilic arthropathy is due to repeated episodes of bleeding into the synovial joints. Although the widespread use of prophylaxis has been able to significantly reduce the onset of arthropathy, it. Joint bleeding represents the most commonly reported type of hemorrhage in patients affected by hemophilia 1,2,3. The system is intended to provide practice to physicians, fellows and residents in the interpreptation of radiological images from a variety of different cases. Hemophilia is a hematological disorder characterized by a partial or complete deficiency of clotting factor viii or ix. Each volume brings forth contributions on topics relevant to the diagnosis, management and treatment of arthritis. Hemophilic arthropathy an overview sciencedirect topics. Radiology of haemophilic arthropathies springerlink.
Typically, these hemarthroses are monoarticular and occur most frequently in the knee elbow ankle. Hemophilic arthropathy mri findings other cases by these authors. Textbook of hemophilia, 3rd edition edited by christine a. Angiomyolipomas of the kidney in bournevillepringles disease 3. The oxford textbook of osteoarthritis and crystal arthropathy provides full coverage of joint failure, and includes detailed sections on epidemiology, risk factors, clinical assessment, and investigations. It is caused by a defective clotting factor known as factor xi. Orthopaedic institute for children hemophilic arthropathy. Hemophilia a and hemophilia b are singlegene, clinically indistinguishable, xlinked recessive bleeding disorders3 that are due to a deficiency in blood coagulation factor viii and factor ix, respectively. The diagnosis is generally made clinically and confirmed with radiographic findings.
Hemophilia a is caused by deficiency or absence of coagulation factor viii. Radiologic methods can be used for the evaluation of joint changes to make therapeutic. Jcm free fulltext a translational study of tnfalpha. It allows evaluation of all structures involved in hemophilic arthropathy and has been shown to be more sensitive than clinical examination and simple radiography in detecting early changes. Erlemann r, rosenthal h, walthers em, almeida p, calleja r. Yet people affected by hemophilia still experience significant health challenges. Lee, ma, md, dsc, frcp, frcpath, frcog emeritus professor of haemophilia, university of london, london, uk erik e. Optimal management of hemophilic arthropathy and hematomas sebastien lobet,1,2 cedric hermans,1 catherine lambert1 1hemostasisthrombosis unit, division of hematology, 2division of physical medicine and rehabilitation, cliniques universitaires saintluc, brussels, belgium abstract.
The deficiency or absence of either of 2 clotting elementsfactor viii or factor ixleads to the clinical condition described as hemophilia a or hemophilia b, respectively, and these 2 sexlink. Speaker abstracts 2019 haemophilia wiley online library. As for radiological evaluation methods of hemophilic arthropathy, there are. In the past, the most frequent form of radiologic evaluation of hemophilic joint arthropathy was the conventional radiograph. If the mother is a known carrier, prenatal diagnosis can be done at 9 to 11 weeks by chorionic villus sampling cvs or by blood sampling at 18 or more weeks. Recent developments in hemophilia recent developments in hemophilia. The purpose of this pictorial assay is to demonstrate the imaging features of the various musculoskeletal manifestations of hemophilia, an xlinked disorder. Sep 27, 2019 hemophilia is the oldest known bleeding disorder and is a disease almost exclusively of males because the defective gene is found on the x chromosome. Hemarthrosis often begins in early childhood soon after the child starts to walk. Textbook of hemophilia, 3rd edition hematology medicine. Physiotherapy in the haemophilic arthropathy of the elbow. Chronic hemophilic arthropathy can develop any time from the second decade of life and sometimes earlier, depending on the severity of bleeding and its treatment.
Congenital frontal sinus defect complicated by multiple brain. Radiological assessment of haemophilic arthropathy with. Oxford textbook of osteoarthritis and crystal arthropathy. Plain film shows minimal osseous changes despite the marked synovial proliferation seen on mri. Christmas disease is indistinguishable except milder. Recognizing the basics, containing new chapters on ultrasound, interventional radiology and mammography as well as online material including videos, and more.
Alok srivastava chair department of hematology, christian medical college, vellore, tamil nadu, india dr. Haemarthroses may be spontaneous or result from minor trauma and typically first occurs before the age of two and continues to occur into adolescence. Recognizing the basics order the 4th edition of the bestselling textbook learning radiology. Clinically relevant and easily understandable overviews of basic science, including pathology and pain. Listing a study does not mean it has been evaluated by the u. Online retailer of specialist medical books, we also stock books focusing on veterinary medicine. Repeated intraarticular hemorrhages lead to hemophilic arthropathy in severe hemophilia.
Brewer department of oral surgery, the royal infirmary. Oct 17, 2014 hemophilia is a hematological disorder characterized by a partial or complete deficiency of clotting factor viii or ix. In the case of severe hemophilia, the first bleeding event usually occurs prior to 18 months of age. Orthopedic complications and treatment related to chronic. Radiology of haemophilic arthropathies, radiology deepdyve. Hemophilia, both classic hemophilia a factor viii def and hemophilia b factor ix def are characterised by recurrent spontaneous haemarthroses. Radiographs showing some of the features of haemophilic arthropathy in this patient with hemophilia.
This young patient has hemophilia a, with multiple previous episodes of. It may be difficult to differentiate synovitis from recurrent bleeding, and at times. Article bleeding diathesis with hemophilic arthropathy. Frontiers in arthritis is an ebook series devoted to publishing the latest advances in arthritis medicine and research.
The deficiency or absence of either of 2 clotting elementsfactor viii or factor ixleads to the clinical condition described as hemophilia a or hemophilia b, respectively, and these 2 sexlinked disorders become clinically apparent in males. There are several tools that are currently being used to assess joint function. Diagnostic accuracy of ultrasound for assessment of. There are also new indepth sections on gout and other crystal arthropathies. Therapies and healthcare delivery for men and boys with hemophilia have improved over the last five decades. The severity of disease depends on the level of factor viii hemophilia a or factor ix hemophilia b present on factor assay testing. Its bleeding complications primarily affect the musculoskeletal system. Department of pediatrics, the childrens hospital, denver, colorado, usa summary. Depending on the site of recurrent bleeding, musculoskeletal manifestation can be in the form of hemophilic arthropathy andor soft tissue, intraosseous, or subperiosteal pseudotumors. Hemophilia is an xlinked recessive bleeding disorder. Hemophilic arthropathy is a wellknown manifestation of hemophilia.
Personalized therapy treating the patient, not the disease. Total joint arthroplasty for hemophilia intechopen. Hemophilia is a bleeding disorder which can have profound musculoskeletal sequelae. Imaging in musculoskeletal complications of hemophilia. In many countries this is provided by comprehensive care haemophilia centres where staff of all specialities concerned with treatment haematologists, paediatricians, nurses, physiotherapists, orthopaedic surgeons have specialized knowledge. Arthritis can be avoided by properly taking care of joint bleeds. Haemophilic arthropathy refers to permanent joint disease occurring in haemophilia sufferers as a longterm consequence of repeated haemarthrosis. Hemophiliahemophilia ahemophilia bchrismas diseasedeficiency ofcoagulation factorviiideficiency ofcoagulation factorix 3. The management of the haemophilic arthropathy frontiers. Mr imaging has proved to be more sensitive in detecting early degenerative changes related to arthropathy than physical examination and radiography. Joint bleeding represents the most commonly reported type of hemorrhage in patients affected by hemophilia. There is widening of the intercondylar notch, accentuation of the trabeculae and enlargement of the medial epicondyle hemophiliac arthritis. Hemophilic arthropathy refers to permanent joint disease occurring in hemophilia sufferers as a longterm consequence of repeated hemarthrosis bleeding into joints. In 1992, approval of the first recombinant factor viii molecule for replacement therapy in the united states allowed for safe prophylaxis in patients with hemophilia.
Hemarthrosis is a major hemophilia related complication, responsible for a particularly debilitating chronic arthropathy, in the long term. Roughly 90% of patients with hemophilia suffer from spontaneous hemarthroses, many of which are recurrent. Reliable information about the coronavirus covid19 is available from the world health organization current situation, international travel. Hemophilia a and b are difficult to delineate clinically 6. Magnetic resonance imaging mri has been shown to more accurately assess a hemophilic joint. Hemophilia a affects approximately 1 in 5000 live male births among all ethnic populations. Berntorp, md, phd professor of coagulation medicine, lund university malmo centre for thrombosis and haemostasis, skane university hospital, malmo, sweden w. Haemophilic arthropathy radiology reference article. Females can develop hemophilia if hemophiliac male marries female carrier. Hemophilia a and b are xlinked disorders that predominantly affect males. The natural history of such swelling is variable in that it may persist for months or years, may progress rapidly into a classic hemophilic arthropathy, or at times may clear spontaneously.
Tuberous sclerosis of the brain bournevillepringles disease 4. Google scholar ahlberg a, pettersson h 1981 radiologic examination for followup of haemophilic arthropathy. Lafeber, in kelley and firesteins textbook of rheumatology. In these cases, the procedures may be done under sedation. As haemophilia is a lifelong condition, continuing supervision by a group of medical personnel is required. Around 50% of patients with haemophilia will develop a severe arthropathy. It occurs when there is a mutation of the f8 or f9 gene, causing hemophilia a or b respectively, on the longarm of the xchromosome 7. Chronic arthropathy is the main comorbidity in the ageing person with haemophilia.
In order to better address these challenges, it will be important to monitor and learn more about the health. The treatment of mt group consisted of two sessions per week, one hour each, and the treatment of group e consisted in a session for 90 minutes every two weeks, with daily home exercises. Radiology teaching files university of rochester medical center. Cardiac radiology genitourinary radiology learning radiology. Arthropathy due to recurrent hemarthroses is the main cause of morbidity in patients with hemophilia. This process is experimental and the keywords may be updated as the learning algorithm improves. Hemophilia is an xlinked recessive disease affecting males. Around 50% of patients with hemophilia will develop a severe arthropathy. The range of symptoms of hemophilia b is similar to that of hemophilia a. Excerpts from our book, evidence based orthopaedic principles.
Optimal management of hemophilic arthropathy and hematomas. Those with a mild case of the disease may have symptoms only after an accident or during surgery. Incidence, treatment and prophylaxis of arthropathy and other musculoskeletal manifestations of haemophilia a and b. Hemophilia xlinked recessive disorder characterized by deficiency ofcoagulation factor.
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