|Year : 2019 | Volume
| Issue : 1 | Page : 7-10
Study of musculoskeletal complications of hemophilia at a tertiary health-care center in Central India
Sujeet Mishra, Deepak Maravi, Santosh Kumar Mishra, Suresh Uikey
Department of Orthopaedics, Gandhi Medical College, Bhopal, Madhya Pradesh, India
|Date of Web Publication||16-Aug-2019|
Dr. Deepak Maravi
Department of Orthopaedics, Gandhi Medical College, Bhopal, Madhya Pradesh
Source of Support: None, Conflict of Interest: None
Background: Hemophilia A, an X-linked recessive disorder of coagulation, caused due to the deficiency of coagulation factor-VIII and hemophilia-B caused due to the deficiency of factor-IX cause spontaneous and traumatic bleeding episodes, leading to various musculoskeletal complications. Materials and Methods: This study was conducted at the Department of Orthopaedics, Hamidia Hospital, Bhopal, for 2 years. After obtaining ethical clearance and consent from the participants, a total of 101 hemophiliac patients were clinically examined, and blood investigations and radiological evaluation were done. Their data were collected using a preformed pro forma. Results: Of the 101 patients, 91 (90.10%) patients had hemophilia A and 10 (9.90%) patients had hemophilia type-B. The mean age of the study population was 20.87 years. Severe (Grade III) hemophilia was more common, with 59.34% cases of hemophilia A and 60% cases of hemophilia B. Fifty-four (53.47%) patients were from rural area. The most common complication was hemarthrosis in 91 patients followed by hemophilic arthropathy in 64 patients, synovitis in 33 patients, and muscle hematoma in 18 patients. Among the 101 patients, 184 joints involved as target joints. Knee joint was the most commonly involved joint (51.09%) followed by elbow (25.54%) and ankle (15.76%). The most common muscle hematoma was psoas muscle hematoma in six (31.58%) patients followed by calf muscle hematoma in four (21.05%) patients. Conclusion: Hemophilia A is most common type causing bleeding in the knee joint and produces arthropathy. It needs prompt factor infusion and physiotherapy to reduce complications.
Keywords: Arthropathy, hemophilia A, hemophilia B, musculoskeletal complications
|How to cite this article:|
Mishra S, Maravi D, Mishra SK, Uikey S. Study of musculoskeletal complications of hemophilia at a tertiary health-care center in Central India. J Orthop Dis Traumatol 2019;2:7-10
|How to cite this URL:|
Mishra S, Maravi D, Mishra SK, Uikey S. Study of musculoskeletal complications of hemophilia at a tertiary health-care center in Central India. J Orthop Dis Traumatol [serial online] 2019 [cited 2020 Jun 5];2:7-10. Available from: http://www.jodt.org/text.asp?2019/2/1/7/264618
| Introduction|| |
Hemophilia is a genetic disorder of coagulation. It is an X-linked recessive disorder, so males usually exhibit the disease and females are the carrier. The most common form is factor VIII deficiency or hemophilia A which includes approximately 80% of cases. The factor lX deficiency or hemophilia B comprises approximately 20% of cases. The lack of these specific coagulation factors renders the patient prone to abnormal bleeding occurring in musculoskeletal system in 80% of cases whereas 20% of cases occurring in the central nervous system and other organs.
The average prevalence of hemophilia is approximately 1/10,000 of population. The prevalence of hemophilia A is 1/5000-10,000 male births and that of hemophilia B is 1 in 20,000-34,000 male births. Depending on the factor level present in the plasma, the severity of hemophilia A and B has been graded into three grades, namely severe (factor level<1%), moderate (factor level = 1%-5%), and mild (factor level = 5%-30%).,
Severe hemophilia leads to recurrent bleeding episodes in the joints and muscles. Weightbearing joints as knee and ankle are more commonly effected. Spontaneous and recurrent bleeding episodes can lead to advanced hemophiliac arthropathy, chronic proliferative synovitis, pseudotumors, articular deformities, subchondral cysts, and contractures. Chronic arthritis can lead to restricted joint motion or laxity with subluxation. Chronic hemophiliac synovitis leads to recurrent hemarthrosis and establishes a vicious cycle of hemarthrosis-synovitis-hemarthrosis, which further leads to chronic hemophiliac arthropathy. Chronic hemophiliac arthropathy may lead to ankylosis of the joint. Hemophilia leads to contracture and muscle weakness and paralysis due to nerve entrapment. Furthermore, it leads to osteopenia and bowing of the bone along with restricted joint motion and subluxation, which increases the chances of fracture.
Continuous prophylaxis can be primary (started when the children begin to walk or just after the first hemarthrosis) or secondary (started after several articular hemorrhages). Coagulation factors are very expensive and not available everywhere in developing countries like India. In India, most of the hemophiliac patients are very poor and hence do not afford expensive treatment, which further increases the morbidity and disability-related musculoskeletal complications. Early detection and medical management, as well as surgical management, can improve the quality of life of these patients with a drastic reduction in both morbidity and mortality. The primary goal of hemophilia care is to treat bleeding episodes as soon as possible.
Orthopedic complications are seen more in those who belong to lower socioeconomic status and the lack of knowledge as well as factor availability at the local place is the major issue in the treatment of patients.
The priority of services for hemophilia includes training of health-care providers, setting up care centers, initiating a registry, educating affected peoples and their families about the disorder, providing low-cost factor concentrates, improving social awareness, and developing a comprehensive care team. The aim of the present work was to study the pattern of musculoskeletal complications of hemophilia in patients attending Hamidia Hospital, Bhopal.
| Materials and Methods|| |
This prospective study was conducted at the Department of Orthopaedics, Hamidia Hospital, Bhopal, from September 2016 to September 2018. This study was performed after procuring informed written consent from all the participants involved. Institutional Ethics Committee approval was obtained. Patients of all age groups suffering from hemophilia A and B with musculoskeletal complications were included in the study.
Patients with all other bleeding disorders except hemophilia such as snake bite, Idiopathic thrombocytopenic purpura (ITP), and other bleeding disorders; patients who failed to give proper information; and patients who had not given consent for the study were excluded from the study.
A detailed history regarding the onset and progression of the disease, family history, maternal carrier status, treatment history, and presence of complications was taken. The percentage of coagulation factor deficiency at the time of diagnosis was used to classify hemophiliacs into mild, moderate, and severe. Clinical examination of the involved joints was done. All patients underwent relevant hematological tests of complete blood count, bleeding time, clotting time, prothrombin time, activated partial thromboplastin time, and factor VIII and IX assay. Radiological investigations were done by X-rays and ultrasonography.
In patients with fracture, the plan of management was made depending on the nature of the fracture, the location of the fracture, and the associated soft-tissue injuries. In patients with articular or near-articular fractures, plating was preferred with minimally invasive approach under adequate hemostasis via factor replacement and adjunct medication with the use of tourniquet if possible with bleeding vessels tied and sutures applied meticulously. Preoperative and postoperative factor supplementation as per protocol and physiotherapy were started in the postoperative period under factor supplementation coverage to regain preinjury functional status of the joint/limb. Physiotherapy was started as soon as pain subsided. Nonweight bearing in the immediate postoperative period with walk using crutches was permitted after 2 weeks depending on the nature and location of fracture, followed by partial weight bearing. Suture removal was done after 12 days under factor coverage. Full weightbearing was allowed only after the clinical and radiological signs of union have been confirmed. Follow-up was done at 2 weeks, 4 weeks, 8 weeks, 6 months, and 1 year.
| Results|| |
A total of 101 patients with musculoskeletal complications of hemophilia were included in the study. All patients were male. In the present study, out of the 101 patients of hemophilia, 91 patients (90.10%) had hemophilia A and 10 patients (9.90%) had hemophilia B. The age of the patients ranged from 1 to 65 years. Most of the patients were of 11-20 years' age group followed by 0-10 years' age group. Thirty-three (32.67%) patients were in 11-20 years' age group, 26 (25.74%) patients were in 0-10 years' age group, 22 (21.78%) patients were in 21-30 years' age group, 9 (8.9%) patients in 31-40 years' age group, 7 (6.93%) patients in 41-50 years' age group, and 4 (3.96%) patients were in >50 years' age group. The mean age of the study population was 20.87 years.
Among the 91 patients with hemophilia A, the number of patients having Grade III, Grade II, and Grade I hemophilia A was 54 (59.34%), 29 (31.87%), and 8 (8.79%), respectively. Among the 10 patients with hemophilia B, the number of patients having Grade III, Grade II, and Grade I hemophilia B was 6 (60%), 3 (30%), and 1 (10%), respectively. Grade III hemophilia (severe form) had higher incidence in both hemophilia A and hemophilia B.
In the present study, geographical distribution indicated that the disease is almost equally prevalent in both rural and urban populations. Among the 101 patients included in the study, majority of the patients belong to rural area: 54 (53.47%) patients were from rural area and 47 (46.53%) patients were from urban area.
Among the 101 patients in this study, 51 (50.50%) patients had a family history, whereas, 50 (49.50%) patients had no family history. Patients with no family history included those with acquired hemophilia due to mutation and those who were unaware of their family history.
In our study, majority of the patients (60 [59.41%]) had first bleeding episode at an age below 2 years. Most of the patients had an episode of bleed at the age of 1 year. The remaining patients had a history of first bleed at 3-5 years (13 [12.87%] patients), 6-10 years (14 [13.87%] patients), and >10 years (14 [13.86%] patients). In our study, most of the patients had first bleed before 2 years of age in the form of gum bleed, joint bleed, nose bleed, or traumatic bleed. Most of the patients with severe form of hemophilia with family history present had early bleeding episode within 2 years of age.
In this study, majority of the patients presented with an episode of hemarthrosis. Ninety-one (90.09%) patients had hemarthrosis at the time of presentation. Among most of the patients presented with an episode of hemarthrosis, there was a repeated history of hemarthrosis with more than 3 bleeds per year. Most of these patients had hemophilic arthropathy at the time of presentation. Sixty-four (63.37%) patients had hemophiliac arthropathy in one or more joints, 33 (32.67%) patients had synovitis, 18 (17.82%) patients presented with muscle (soft tissue) hematoma, 7 (6.93%) patients presented with fracture, 2 (1.98%) with contracture, 4 (3.96%) with neuropathy, 3 (2.97%) with pseudotumor formation, and 16 (15.84%) patients had deformity.
Among all the 101 patients, 184 joints involved as target joints. Knee joint was the most commonly involved joint (51.09%) followed by elbow (25.54%) and ankle (15.76%). Other less common sites of involvement were hip, shoulder, and wrist. The most common muscle hematoma was psoas muscle hematoma in six (31.58%) patients followed by calf muscle hematoma in four (21.05%) patients. The most common joint with >3 bleeds/year was left knee (27.42%) followed by right knee (25.81%), left elbow (12.90%), and right elbow (8.87%). Deformity including hip and knee flexion deformity, genu varum, equinus deformity, claw hand seen in 16 patients.
Out of the 101 patients, only 12 (11.88%) patients reported within 24 h of complications, whereas 27 (26.73%) patients reported within 1-3 days and 36 (35.64%) patients reported within 4-7 days of the start of complications, whereas 26 (25.74%) patients reported after more than 7 days of the start of complications.
| Discussion|| |
In the present study, among 101 hemophilia patients, there were 91 (90.10%) patients with hemophilia A and 10 (9.90%) patients with hemophilia B. Kim et al. found 425 (85.3%) cases of hemophilia A out of 498 cases. Sadaria et al. found 97 (79.5%) cases of hemophilia A out of 122 cases studied. Varadarajan et al. found 80.2% of cases of hemophilia A in 101 patients studied. Tonbary et al. in 2010 in their study included 72 patients in which 44 had hemophilia A. In 2014, Namoos and AL-Zubaidy conducted a study on sixty patients with hemophilia and found that 76.7% of patients had hemophilia A. Hence, hemophilia A was found in majority of the cases, similar to our study.
Majority of patients in the present study had severe hemophilia (~60%), similar to the findings reported by Kim et al., in which 273 (54.1%) patients belonged to severe grade, 182 (36.5%) patients to moderate grade, and 43 (8.7%) patients to mild grade of hemophilia. Our findings of the severity of hemophilia are also in correlation with the findings of Hazewinkel et al., Mishra et al., and Dr. Paranthaman et al.
In the present study, family history was present in 51 (50.50%) patients, similar to the study done by Kim et al. where 43% of cases had family history present and similar to the study of Hazewinkel et al. where they studied 78 patients with positive family history in 49% cases.
In the present study, hemarthrosis was the most common complication, with hemarthrosis of the knee joint being the most common, which is similar to the study of Varadarajan et al. who observed hemarthrosis in 52.9% cases along with knee being the most common joint involved followed by elbow and ankle, similar to the present study. Our findings were also in correlation with those of Kim et al., Shammon, and Mishra et al. Hemophiliac arthropathy was found in 64 patients, synovitis in 33 patients, muscle hematoma in 18 patients, fractures in 7 patients, and deformity in 16 patients.
According to Shamoon, Balkan et al., and Rodriguez-Merchan, the overall incidence of hemarthrosis was more than 75%. Knee was more frequently affected followed by elbow, ankle, wrist, and shoulders. A similar finding and sequence was found in the present study.
In the present study, 60% of cases had the first bleeding episode below 2 years of age. Similar findings were also found by Varghese and Padmakumar and Kim et al. In our study, the most common target joint was knee, left knee (27.42%) followed by right knee (25.81%), which was similar to the study of Dr. Paranthaman et al. where the authors observed right knee bleed in 22% and left knee bleed in 24% of cases and also similar findings were seen in the study of Mishra et al.
| Conclusion|| |
Musculoskeletal complications are one of the most common complications of hemophilia. Patients of hemophilia are usually male. The most common type of hemophilia is hemophilia A accounting for >80% of cases. Severe grade is more common.
In the present study, the most common affected age group was 11-20 years followed by 1-10 years. Majority of the patients had a family history. The causes of bleeding were traumatic or spontaneous in cases of hemarthrosis or muscle hematoma. Majority of the patients had their first bleed at 0-2 years of age. Hemarthrosis was the most common complication and knee was the most common joint involved followed by elbow and ankle. Recurrent episodes of hemarthrosis lead to arthropathy which further leads to deformity and ankylosis of joints. The most common site of muscle hematoma was psoas muscle.
Factor replacement therapy and physiotherapy reduce the frequency and complications of hemarthrosis.
Priorities should be established to improve hemophilia care and early diagnosis and management such as training of health-care providers, setting up hemophilia care centers, initiating a registry, educating affected peoples, improving social awareness, and developing comprehensive care support group.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Harrison's Textbook of Internal Medicine. 18th
ed. Longo DL, Kasper DL, Jameson JL, Fauci AS, Hauser SL, Loscalzo J. 2012. McGraw - Hill USA. p. 974-75, 2853.
Sona PS, Muthulingham C. Haemophilia - An overview. Int J Pharm Sci Rev Res 2010;5:18-25.
Arun B, Kessler CM. Clinical manifestations and therapy of the hemophilias. In Coleman RW, Hirsh J, Marder VI. Editors,. Hemostasis and Thrombosis: Basic Principles and Clinical Practice, Philadelphia, Lippincott, Williams and Wilkins 2000. p. 815-24.
Valentino LA, Hakobyan N, Enockson C, Simpson ML, Kakodkar NC, Cong L, et al.
Exploring the biological basis of haemophilic joint disease: Experimental studies. Haemophilia 2012;18:310-8.
Kim KY, Yang CH, Cho MJ, Lee M. Comprehensive clinical and statistical analysis of hemophilia in Korea. J Korean Med Sci 1988;3:107-15.
Sadaria TB, Goswami HM, Patel S. Study of laboratory parameters in haemophilia patients. Int J Curr Res Rev 2016;8:46-9.
Varadarajan M, Rakesh SR, Ramaswamy P, Mohammed R, Ramiah S. Clinico-psychological profile of children with bleeding disorders from a tertiary centre in Karnataka. Indian J Child Health 2017;4:511-4.
Tonbary YA, Elashry R, Zaki Mel S. Descriptive epidemiology of hemophilia and other coagulation disorders in Mansoura, Egypt: Retrospective analysis. Mediterr J Hematol Infect Dis 2010;2:e2010025.
Namoos AL-Zubaidy AM. Descriptive study of haemophilia in Al-Ramadi city. Diyala J Med 2014;6:55-9.
Hazewinkel MH, Hoogerwerf JJ, Maclean PE, Peters M. Haemophilia patients aged 0 -18 years in the Western Cape. S Afr Med J 2003;93:793-6.
Mishra S, Kumar S, Panwar A, Bhagchandani D, Aneja GK, Verma N, et al
. A clinical profile of haemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study. Med J DY Patil Univ 2016;9:320-4. [Full text]
Paranthaman P, Malathi S, Arunprabhu P. Clinical profile of haemophilic patients at Govt. Royapettah hospital. IOSR J Dent Med Sci 2017;16:41-6.
Shamoon RP. Magnitude of arthropathy in patients with haemophilia: A single centre experience. Iraqi J Haematol 2017;6:78-83.
Balkan C, Kavakli K, Karapinar D. Iliopsoas haemorrhage in patients with haemophilia: Results from one centre. Haemophilia 2005;11:463-7.
Rodriguez-Merchan EC. Aspects of current management: Orthopaedic surgery in haemophilia. Haemophilia 2012;18:8-16.
Varghese S, Padmakumar NN. Clinical profile of haemophilia in children in a tertiary care centre. J Evol Med Dent Sci 2017;6:5775-7.