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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 16  |  Issue : 3  |  Page : 101-104

Hemophilic arthropathy of the knee: A case report with discussion on the role of imaging with review of literature


1 Department of Radiology, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab, India
2 Department of Orthopaedics, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab, India

Date of Web Publication3-Jul-2019

Correspondence Address:
Dr. Paramdeep Singh
Department of Radiodiagnosis, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcls.jcls_88_18

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  Abstract 


A diverse range of clinical and radiological findings can be seen in a patient with hemophilia. Bleeding in joints and soft tissues occur either spontaneously or with minor trauma. We present images and clinical findings of hemophilic arthropathy in an 18-year-old male who presented with limping, pain, and mild swelling in the left knee joint along with a brief review of the literature.

Keywords: Hemophilia, arthropathy, imaging, knee, trauma


How to cite this article:
Kaur R, Dahuja A, Singh P, Aggarwal S. Hemophilic arthropathy of the knee: A case report with discussion on the role of imaging with review of literature. J Clin Sci 2019;16:101-4

How to cite this URL:
Kaur R, Dahuja A, Singh P, Aggarwal S. Hemophilic arthropathy of the knee: A case report with discussion on the role of imaging with review of literature. J Clin Sci [serial online] 2019 [cited 2019 Jul 17];16:101-4. Available from: http://www.jcsjournal.org/text.asp?2019/16/3/101/262071




  Introduction Top


Hemophilic arthropathy (HA) is permanent joint disease occurring as a long-term consequence of repeated hemarthrosis. Around 50% of patients with hemophilia will develop a severe arthropathy. These patients need a long-term follow-up as disease manifests early with significant lifelong morbidity. Imaging modalities such as plain X-rays and magnetic resonance imaging (MRI) are used to evaluate HA objectively and to differentiate from closely resembling entities. HA results due to recurrent hemarthrosis and siderotic synovitis. With regular follow-up and assessment of the disease process, the severe disability can be avoided with a better outcome for the patient. There are several established scoring systems for grading HA based on conventional radiography with a role for MRI in the staging of the disease. MRI has an established role in the diagnosis of early disease showing thickened synovium with low signal due to hemosiderotic synovitis. Furthermore, the joint effusion, cartilage loss, and erosions can be well seen with MRI, which is useful in the early management of the patient.


  Case Report Top


An 18-year-old young male known hemophilia A presented with limping, pain, and mild swelling in the left knee joint to the orthopedic department. The patient had weakness of knee extension with a reduced asymmetric bulk of quadriceps on clinical inspection. On further investigation, C-reactive protein was nonreactive, and erythrocyte sedimentation rate was within normal range. The patient was referred to the radiology department for plain X-ray left knee joint. On X-ray, there was osteopenia and epiphyseal overgrowth, widened intercondylar notch, soft-tissue swelling, flattening of the condylar surface, and erosive changes [Figure 1]. The radiographic differentials in this setting included HA and juvenile rheumatoid arthritis.
Figure 1: Anteroposterior radiograph of the left knee joint showing widening of the intercondylar notch, medial epiphyseal overgrowth, diffuse osteopenia, joint space narrowing, and erosions on the articular surface

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MRI was done for a further detailed evaluation of the knee joint and to look for effusion and synovitis. Standard features were seen on MRI including hypointense foci on both TI-weighted (T1W) and T2-weighted (T2W) sequences suggestive of hemosiderin deposition which showed blooming on gradient echo sequences. Furthermore, seen was synovial hypertrophy, bony erosions with joint effusion. There was seen hemosiderin deposition as hypointense foci along the intraarticular tendons as well as ligaments [Figure 2], [Figure 3], [Figure 4], [Figure 5]. All these radiological and clinical findings led to the diagnosis of HA.
Figure 2: Sagittal magnetic resonance image of the left knee joint showing hypointense areas s/o hemorrhages involving the femoral attachment sites of the cruciate ligaments with hypertrophic synovium. There is also seen associated joint effusion

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Figure 3: Sagittal magnetic resonance image of the left knee joint showing hypointense areas s/o hemorrhages involving the femoral attachment sites of the cruciate ligaments with hypertrophic synovium

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Figure 4: Coronal magnetic resonance image of the left knee joint showing hypointense areas s/o hemorrhages involving the femoral attachment sites of the cruciate ligaments with hypertrophic synovium

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Figure 5: Coronal magnetic resonance image of the left knee joint showing hypointense areas s/o hemorrhages involving the femoral attachment sites of the cruciate ligaments with hypertrophic synovium. There is also seen associated joint effusion

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  Discussion Top


Hemophilia is a hereditary X-linked recessive bleeding disorder due to deficiency of coagulation factor VIII.[1] It has an estimated incidence of 1 in 10,000–20,000 people. The blood levels of factor VIII C are usually directly related to the severity of the disease.[2] It is seen that patients with < 1% of regular activity of factor VIII C develop severe illness, those between 2% and 5% are associated with moderate disease and with 6%–50% of activity develop the mild disease.[3] The recurrent hemarthrosis and chronic synovitis are the underlying etiology in HA.[4] It is oligoarticular to monoarticular illness with the knees and elbows being most commonly involved, and other joints such as shoulders, hips, and ankles are relatively less widely affected.[5] The ankle joint is rarely involved with incidence of 2.2% only; however, there is a maximum limitation of motion with the involvement of the same.[6] In a study by Jansen et al., it was found that the three large joints (ankle, knee, and elbow) were the most commonly affected by.[6] As there is weight-bearing at the knee and ankle, they bleed more often as compared to the shoulders and hips which are better supported.[7],[8]

The characteristic clinical feature in hemophilia is bleeding into joints and soft tissues. There is resorption of intraarticular blood which induces reactive synovitis which causes recurrent hyperplastic synovitis. The chronic synovitis results in impaired blood supply to the growth plate and also itself produces subsequent cartilage destruction. This is followed by expansion of the epiphyses which become abnormal in shape and fuse prematurely. Clinically, the patient presents before the age of 2 years, and symptoms continue to occur into adolescence. The hematomas arise either spontaneously or resulting from minor trauma with a majority of the patients presenting with wasted limb muscles. There are also seen joint contractures due to fibrosis and associated joint effusion. Plain X-ray is the preliminary essential investigation that helps us to narrow differentials with MRI findings leading to the final diagnosis of the disease. The two classifications on plain radiography still in use today are that of Arnold and Hilgartner described in 1977, and that of Pettersson et al., in 1980.[9] The Arnold–Hilgartner scale is a progressive scale of arthropathy, i.e., the score reflects the worst findings in the joint. The Pettersson classification is additive and the score for the joint is the sum of the abnormalities.

Arnold–Hilgartner classification on X-ray Stages 0 as a normal joint and gradually progresses to Stage V which is the formation of contractures, loss of the joint cartilage space with extensive enlargement of the epiphyses and disorganization of the joint.[10] In 1981, the World Federation of Hemophilia (WFH) recommended for the universal use of the Pettersson as the score is additive and soft-tissue changes, such as joint swelling or synovial thickening, are not taken into consideration owing to the difficulty in evaluating these on plain films, and these also may be reversible. In this scoring system, abnormalities are given a score from 0 to 1 or 2, depending on the particular finding. The highest joint score for a single joint is 13, i.e., a totally destroyed joint.

Despite the usefulness of all these classification systems on X-ray, only MRI has been proposed to classify the severity of the joint disease on the basis of which management can be done. The classical features on MRI include hemosiderin deposition (seen as hypointense foci on both T1W and T2W sequences, and showing blooming on gradient echo sequences) and synovial hypertrophy (best appreciated on T2W fat-suppressed and postgadolinium T1W sequences). Hemosiderin may be deposited along with the intraarticular ligaments and tendons. MRI is also useful in monitoring the progress of arthropathy.[11],[12] Apart from these, there are other associated complications such as pseudotumor or contracture formation and rare lethal complications such as intracranial, intrathoracic, or abdominal bleed. Pseudotumors are a rare complication of hemophilia, occurring in 1%–2% of patients with a severe coagulation disorder.[13] A hemophilic pseudotumor is a slowly expanding encapsulated usually a painless lesion occurring as a result of recurrent hemorrhage into the extraarticular soft tissues often detected incidentally.[14]

MRI is useful in monitoring response to the prophylactic treatment in patients with early stage of the disease,[15] and also, it can help in the selection of patients with more advanced disease for synovectomy, whether surgical, chemical, or radioisotopic.[9] A comparative study has shown MRI to be more sensitive in detecting the first signs of arthropathy compared with the WFH Physical Joint Examination or radiography.[16] MRI is presently the most sensitive imaging technique for early detection of joint lesions.[17] In cases of repeated hemarthrosis in a single joint, with the related risk of synovitis and chronic arthropathy, a synovectomy or synoviorthesis may be considered. Replacement surgeries are considered as a treatment of choice for patients with severe arthropathy as it abolishes pain and corrects some deformities.


  Conclusions Top


Hemophilia is a lifelong disease with significant morbidity and mortality. A wide range of clinical manifestations and radiological findings can be seen in this disease. For this reason, the patient should be followed in multidisciplinary departments working closely in collaboration for proper management. There is an important role of imaging in diagnosis and staging of the disease; hence, it plays an integral part in the management of HA.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Hoyer LW. Hemophilia A. N Engl J Med 1994;330:38-47.  Back to cited text no. 1
    
2.
Biggs R, Macfarlane RG. Haemophilia and related conditions: A survey of 187 cases. Br J Haematol 1958;4:1-27.  Back to cited text no. 2
    
3.
Cahill MR, Colvin BT. Haemophilia. Postgrad Med J 1997;73:201-6.  Back to cited text no. 3
    
4.
Luck JV Jr., Silva M, Rodriguez-Merchan EC, Ghalambor N, Zahiri CA, Finn RS. Hemophilic arthropathy. J Am Acad Orthop Surg 2004;12:234-45.  Back to cited text no. 4
    
5.
Duthie RB, Rizza CR, Giangrande PL. The Management of Musculoskeletal Problems in the Hemophilias. Oxford: Oxford University Press; 1994.  Back to cited text no. 5
    
6.
Jansen NW, Roosendaal G, Lundin B, Heijnen L, Mauser-Bunschoten E, Bijlsma JW, et al. The combination of the biomarkers urinary C-terminal telopeptide of type II collagen, serum cartilage oligomeric matrix protein, and serum chondroitin sulfate 846 reflects cartilage damage in hemophilic arthropathy. Arthritis Rheum 2009;60:290-8.  Back to cited text no. 6
    
7.
Valentino LA, Taylor A. Hemophilia clinical consults: Hemophilic arthropathy, reduced bone density and preventive strategies. Clin Consults 2011;1:1.  Back to cited text no. 7
    
8.
Stephensen D, Tait RC, Brodie N, Collins P, Cheal R, Keeling D, et al. Changing patterns of bleeding in patients with severe haemophilia A. Haemophilia 2009;15:1210-4.  Back to cited text no. 8
    
9.
Pettersson H, Gillespy T, Kitchens C, Kentro T, Scott KN. Magnetic resonance imaging in hemophilic arthropathy of the knee. Acta Radiol 1987;28:621-5.  Back to cited text no. 9
    
10.
Arnold WD, Hilgartner MW. Hemophilic arthropathy. Current concepts of pathogenesis and management. J Bone Joint Surg Am 1977;59:287-305.  Back to cited text no. 10
    
11.
Ng WH, Chu WC, Shing MK, Lam WW, Chik KW, Li CK, et al. Role of imaging in management of hemophilic patients. AJR Am J Roentgenol 2005;184:1619-23.  Back to cited text no. 11
    
12.
Gunning A, Biggs R, MacFarlane R. Treatment of Hemophilia and Other Coagulation Disorders. Philadelphia, PA: Davis; 1966.  Back to cited text no. 12
    
13.
Ahlberg AK. On the natural history of hemophilic pseudotumor. J Bone Joint Surg Am 1975;57:1133-6.  Back to cited text no. 13
    
14.
Jaovisidha S, Ryu KN, Hodler J, Schweitzer ME, Sartoris DJ, Resnick D. Hemophilic pseudotumor: Spectrum of MR findings. Skeletal Radiol 1997;26:468-74.  Back to cited text no. 14
    
15.
Manco-Johnson MJ, Pettersson H, Petrini P, Babyn PS, Bergstrom BM, Bradley CS, et al. Physical therapy and imaging outcome measures in a haemophilia population treated with factor prophylaxis: Current status and future directions. Haemophilia 2004;10 Suppl 4:88-93.  Back to cited text no. 15
    
16.
Funk MB, Schmidt H, Becker S, Escuriola C, Klarmann D, Klingebiel T, et al. Modified magnetic resonance imaging score compared with orthopaedic and radiological scores for the evaluation of haemophilic arthropathy. Haemophilia 2002;8:98-103.  Back to cited text no. 16
    
17.
Lundin B, Babyn P, Doria AS, Kilcoyne R, Ljung R, Miller S, et al. Compatible scales for progressive and additive MRI assessments of haemophilic arthropathy. Haemophilia 2005;11:109-15.  Back to cited text no. 17
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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