Summary: Hemophilia is a lifelong disease causing significant morbidity and mortality, and there is a wide spectrum of clinical manifestations and imaging findings associated with this disease. In this article, the authors illustrate common and rare imaging findings of hemophilia, focusing on hemophilic arthropathy, soft-tissue hematoma, infected soft-tissue pseudotumor eroding into the pleural cavity, intramural gastrointestinal hematoma, intracranial hemorrhage, and deep venous thrombosis.
Dr. Yeung, Dr. Lee, Dr. Lo, Dr. Ma, and Dr. Fong are from the Radiology Department, Princess Margaret Hospital, Lai Chi Kok, Hong Kong.
is a lifelong disease causing significant morbidity and mortality. A
wide spectrum of clinical manifestations and imaging findings is
associated with this disease. Hemophilias A and B are X-linked genetic
disorders; hemophilia A is due to deficiency of clotting factor VIII,
while hemophilia B is due to deficiency of clotting factor IX. The
incidences of hemophilia A and B are 1:5000 male and 1:25000 male,
respectively.1 The most common manifestation of hemophilia is hemophilic arthropathy.2,3 The
authors illustrate common and rare imaging manifestations of
hemophilia, focusing on hemophilic arthropathy, soft-tissue hematoma,
infected soft-tissue pseudotumor eroding into the pleural cavity,
intramural gastrointestinal hematoma, intracranial hemorrhage, and deep
Hemophilic arthropathy is
due to repeated episodes of bleeding into the synovial joints.
Hemarthrosis causes a chemical reaction between blood and the synovium
and cartilage, leading to pannus formation and cartilage erosion. Damage
to the subchondral bone also occurs. Recurrent hyperemia of the growing
joint will cause the epiphysis to enlarge and juxta-articular
osteoporosis.4-6 Typical plain radiograph findings of
hemophilic knee arthropathy include a widened intercondylar notch,
squaring of the patella, joint space narrowing, subchondral cysts,
osteoporosis, and accelerated degenerative changes.5
resonance imaging (MRI) can be used to detect early erosions,
subchondral cysts, bone marrow edema, joint effusion or hemorrhage,
synovial hypertrophy, and concurrent ligament tears (Figures 1 and 3).
arthropathy most commonly affects the large joints. The frequency of
joint involvement is, in descending order: the knee, elbow, ankle, hip,
and shoulder.7, 8 Figures 4 through 8 provide examples of MRI
and computed tomography (CT) images showing less commonly affected
joints and include epiphyseal overgrowth, joint surface erosions, and
osteonecrosis, another finding of hemophilic arthropathy that occurs
secondarily to intra-articular bleeding.4
Less common manifestations
Intramuscular or soft-tissue hematomas account for 10% to 30% of musculoskeletal hemorrhages in hemophilia.9,10
Subcutaneous hemorrhagic nodules have also been reported by Davis et al
as the presenting symptom in a 9-month-old boy with hemophilia (Figure
Infected soft-tissue pseudotumors
Hemophilic pseudotumors are chronic, organized, and encapsulated cystic masses that result from recurrent hemorrhage.10,12 It is estimated that 1% of severe hemophilic patients have pseudotumors.12,13 These can be osseous or soft-tissue lesions that are also able to cross anatomical boundaries.12 They are also known to cause bone erosion and pathological fractures.5 Pseudotumors may become calcified or ossified; infection is also a potential complication (Figure 10).10,14
Intramural gastrointestinal hematoma
Intramural gastrointestinal hematomas have
been described in patients with bleeding diastheses and those being
treated with anticoagulants. They can result from serious or minor
injuries, such as those caused by traffic accidents and endoscopy.15 They are most commonly found along the small bowel.15 Intramural
hematomas can be the first presentation of hemophilia, as Griffin et al
have presented a case of intramural gastric hematoma in a patient with
undiagnosed hemophilia (Figures 11 and 12).15
hemorrhage is one of the most common causes of death in hemophiliacs;
young patients are most often affected. It can be the initial
manifestation of hemophilia. Seizures and neurological impairments are
potential complications (Figures 13 and 14).16,17
Deep venous thrombosis
Venous thrombosis has been reported in hemophilia, resulting most often from indwelling catheters.18 Non-catheter-related deep vein thrombosis has also been reported by Girolami et al and Rao et al.18,19
Predisposing factors for thrombosis in hemophiliacs include the
administration of coagulation factors, surgery, infection, and
prothrombotic conditions, such as a Factor V Leiden mutation and Protein
C or S deficiency (Figures 15 and 16).18
is a lifelong disease causing significant morbidity and mortality. A
wide range of clinical manifestations and radiological findings can be
seen in this disease. Bleeding diathesis and paradoxical thrombosis can
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Updated Nov. 22, 2010.
- Soreff J. Joint debridement in the treatment of advanced hemophilic knee arthropathy. Clin Orthop Relat Res. 1984;191:179-184.
W, Lin Q, Guermazi A, et al. Comparison of radiography, CT and MR
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RF. Imaging in musculoskeletal complications of hemophilia. eMedicine.
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- Maclachlan J, Gough-Palmer A, Hargunani R, et al. Hemophilia imaging: A review, Skeletal Radiol. 2009;38:949-957.
- Weissleder R, Wittenberg J, Harisinghani MG. Primer of diagnostic imaging. 3rd ed. St. Louis, MO: Mosby; 2003.
- Blickman JG, Vanderschueren G. Skeletal System. In: Blickman J, Parker B, Barnes P. Pediatric Radiology: The Requisites, 3rd ed. Philadelphia, PA: Mosby/ Elsevier; 2009:157-204.
- Beeton K, Alltree J, Cornwall J. Rehabilitation of muscle dysfunction in hemophilia. Haemophilia. 1990;4:532-537.
A I. Conservative physiotherapeutic management of chronic haematomata
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- Park J S, Ryu K N. Hemophilic pseudotumor involving the musculoskeletal system: Spectrum of radiologic findings. AJR Am J Roentgenol. 2004;183:55-61.
- Ahlberg AK. On the natural history of hemophilic pseudotumor. J Bone Joint Surg Am. 1975; 57:1133-1136.
MJ, Critchley M, McVerry BA. Unusual presentation of a large infected
hemophiliac pseudotumor in an autologous indium-111 WBC scan. Clin Nucl Med. 1986;11:568-569.
- Griffin PH, Schnure FW, Chopra S, et al. Intramural gastrointestinal hemorrhage. J Clin Gastroenterol. 1986;8:389-394.
V, Schmidt KA, Slaby JA, Pruthi PK. Intracranial haemorrhage as initial
presentation of severe haemophilia B: Case report and review of Mayo
Clinic Comprehensive Hemophilia Center experience. Haemophilia. 2005; 11:73-77.
MD Jr, Maeder MA, Usner D, et al. The Hemophilia Growth and Development
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population of children with haemophilia. Haemophilia. 1999;5:306-312.
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vein thrombosis in a patient with severe haemophilia A. Haemophilia. 2009;15:1339-1340.
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