Int. j. pathol 2013; 11(2): 58-63 Original Article Haemophilia; Pattern of Clinical Presentation and Disease Severity Zahida Qasim,* Lubna Naseem, ** Naghmi Asif, **** Khalid Hassan*** * Department of Pathology, Divisional Headquarter Teaching Hospital Mirpur, Azad Kashmir, Pakistan ** Department of Pathology, Pakistan Institute of Medical Sciences, Islamabad *** Department of Pathology, Islamabad Medical and Dental College Islamabad Abstract Objective: To observe pattern of clinical presentation in patients of Hemophilia A and B. Materials and Methods: Fifty one patients of Haemophilia A and B were evaluated on the basis of Pa- tient`s demographic data, history (family, medication, past) and parameters like age, clinical features (pallor, number of joint involved, ankylosis and pain). Blood complete picture, Coagulation screening tests, bleeding time, PT, APTT, mixing studies and factor assays were documented. Results: In total of fifty one patients, twenty two (43.13%) had severe degree of disease (<1% factor concentrate), while 19(37.2%) patients were diagnosed to have moderate degree of disease (factor con- centrate 1-5%) and 10 (19.6%) had mild disease (factor concentrate 5-50%). Patients having severe dis- ease were diagnosed earlier than those having moderate and mild disease, and had frequent episodes of bleeding in soft tissues, joints, muscles etc. Conclusion: Pattern of clinical presentation helps to categories the haemophilia patients as having mild, moderate or severe degree of disease Key words: Haemarthrosis, haemophilia A, haemophilia B, spontaneous bleeding, ankylosis. per 5000 male births 4 and Haemophilia B Introduction (Christmas Disease) is 1 in 30,000 5 and estimated Haemophilias are rare X linked hereditary bleed- number of Haemophiliacs worldwide is 400,000. 6 ing disorders classified into Haemophilia A (De- Both the disorders (A & B) are indistinguishable ficiency of Factor VIII) and Haemophilia B (Defi- clinically from each other as the signs and symp- ciency of Factor IX) characterized by the body's toms are same and diagnosis is established by inability to control blood coagulation resulting in performing mixing studies and specific factor as- bleeding either spontaneously or after a trauma. 1 say. 7 Haemophilias usually affects males and females Clinically patients present with recurrent, spon- are carriers transmitting the disease to their sons taneous, and usually post-traumatic hemorrhages 2 while thirty percent of the patients have no fam- which may involve deep muscles, resulting in ily history and are a result of de novo mutations. 3 hematoma formation, hemarthrosis, and easy The incidence of Haemophilia A (Classical) is 1 bruising. 8 Infants may develop excessive bleeding after circumcision. The clinical severity of the dis- Correspondence: Dr. Zahida Qasim, Department of Pa- ease mainly correlates with the level of the factor thology, Divisional Headquarter Teaching Hospital Mirpur, in the blood and it is said to be severe when the Azad Kashmir Email: dr_qasim2011@hotmail.com level is below 1% of the normal, 9 while it is said 58
Int. j. pathol 2013; 11(2): 58-63 to be moderate when the level is between 1-5% of affected. Recurrent joint and muscle bleeds ulti- normal and the disease is taken as mild when fac- mately lead to crippling joint deformities and tor level is >5% but <40% of normal. 10 Severity of muscle wasting resulting in severe handicaps. the disease is assessed by measuring the clotting Arthropathy leads to morbidity in a majority of factor level % activity (IU/ml)) in patients plas- patients of haemophilia. 17 Joint damage can oc- ma. 11 According to the guidelines for manage- cur after only a few haemarthrosis. 18 It is there- ment of Haemophilia by WFH 2007 12 the inci- fore of critical importance to prevent initial joint dence of different sites of bleeding include hae- bleeds, and the resulting synovial hypertrophy marthrosis: 70%-80%, muscle/soft tissue:10%- and joint destruction. 19 In developing countries 20%, other major bleeds 5%-10% and central these patients are managed by replacement of the nervous system (CNS) bleeds: < 5%. Bleeding in- deficient factor by blood and blood products to calf, forearm or perineal muscles can lead to (cryoprecipitate, fresh frozen plasma) which has ischemic necrosis and contractures. 13 In severe raised the issue of transmission of Hepatitis B, C cases , the relative incidence of spontaneous and HIV in these patients. 20 bleeding is 50% which is predominantly in joints Although 80% of the haemophilics live in devel- and muscles while “Spontaneous bleeding” refers oping world but there is significant lack of data to those episodes of bleeding in which there is no on the incidence of haemophilia in developing obvious cause or history of trauma. Minor tissue world. Out of 191 member states of World Health damage which results from everyday activities organization, 143 are developing countries which initiates bleeding in patients of severe haemophil- are within Asia, Africa and South America. 21 The ia. The relative incidence of occasional spontane- data collection is improper and it does not accu- ous bleeds and bleeding after trauma or surgery rately represent the epidemiology of haemophilia is 30% in moderate cases while in milder cases in these countries. 22 Pakistan stands at 122 nd posi- severe bleeding only occurs with major trauma or tion among the countries with the poor health surgery and the relative incidence is 20% . 11 system as reported in a publication in year 2000. 23 Hemarthrosis (intra articular bleeding) is the Today five centers are working under the super- most common clinical manifestation in severe vision of Pakistan Hemophilia Patients Welfare cases of both Haemophilia A and B with an inci- Society (PHPWS) which was formed in 1998. dence of 80%. 14, 15 Haemarthrosis in hemophiliacs Lack of awareness among general public, illitera- is also due to synthesis of tissue factor pathway cy, poverty, Poor acceptability of disability and inhibitor (TFPI) in synovial tissue 13 or due to low social taboos are additional influences which cre- level of tissue factor (TF) expression in synovial ate “Gap” of access to diagnosis and treatment of tissue. 11 In patients with severe haemophilia the Hemophilia. Similarly deficiency in training of spontaneous bleeding into joints initiates a vi- medical and paramedical staff and unavailability cious cycle of bleeding followed by partial heal- of factor concentrates are the main causes of un- ing with synovial thickening and cartilage dam- der diagnosis and mismanagement of haemophil- age. This leads to a sequence of events of acute ia patients in Pakistan. Six chapters are working and chronic haemarthrosis and acute and chronic diligently to provide education, medical relief, synovitis which results in disabling arthropa- and physiotherapy to hemophilia patients under thy. 16 Typically, hinge joints (weight bearing) like the supervision of Pakistan Hemophilia Patients knees, elbows, and ankles are most frequently Welfare Society (PHPWS) which was established 59
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