Clinical Spectrum of Primary Polycythaemia and Its Complications -Experience from a Single Center in Karnataka.

Awareness and diagnosis of Philadelphia Negative Chronic Myeloproliferative Disorders has now improved and there is a need for more epidemiological data from India. MethodsThis is a retrospective study of patients of polycythaemia conducted at clinical haematology services, BMCRI, Bengaluru from 2010 to 2017. Results88 patients of polycythaemia were retrospectively studied. 84.1% were male and 15.9% were female. Their ages ranged from 19 to 79 years. 75 (85.23%) had Polycythaemia Rubra Vera (PRV). JAK-2 (V617F) mutation was positive in 33.33%. The commonest presentation was with unexplained erythrocytosis in 50 (66.66%), thrombosis in 20 (26.66%) and with bleeding in 2 (2.66%). 22 thrombotic events occurred in 20 PRV patients. Cortical sinus thrombosis was seen in 27.3%, cerebrovascular accidents in 22.8%, portal vein thrombosis in 13.6%, pulmonary embolism in 9.1%, central retinal artery occlusion in 13.6%, myocardial infarction in 4.5% and digital infarction in 9.1% patients. 3 cases of PRV presented with diplopia. No other definitive cause for ocular palsy could be found. The JAK 2 positive group was slightly older than the negative group and had higher frequency of splenomegaly (p<0.05) and higher values for haemoglobin (p<0.001) and neutrophil counts (p<0.001) and platelet counts (p<0.05). ConclusionsPatients with thrombosis, erythrocytosis, thrombocytosis and haemorrhage should be suspected to have myeloproliferative disorders like PRV and investigated. Ophthalmoplegia is a rare presentation and should raise the suspicion for polycythaemia. There is a higher probability of splenomegaly and higher values for haemoglobin and neutrophil counts and platelet counts in JAK 2 positive group.

Nutritional status and growth of children with hemophilia: a cross-sectional study

Background: Haemophilia A and B are the most common severe bleeding disorders and are inherited as X linked recessive pattern. The main clinical manifestations include bleeding into musculoskeletal sites or soft tissues mainly causing joint impairment and thus resulting in various morbidities. Prophylaxis therapy and inhibitor management have contributed a lot to the management of haemophilia cases. However in resource poor setting countries, like India, availability of factors, prophylactic therapy is farfetched leading to joint abnormalities, decreased physical activity and thus leading to different nutritional states. Studies from developed countries reveal obesity and overweight instances in children with Hemophilia. However not many studies have been undertaken to evaluate the nutritional status of such children in India.Methods: This study was conducted in the Comprehensive hemophilia Care Centre, Victoria Hospital, attached to Bangalore Medical College. A total of 50 children were included in the study. Children aged between 4 and 18 years attending the hemophilia Clinic were included in the study. Observations and review of relevant documents were done.Results: Among 50 children of haemophilia, 18(36%) children were aged less than 10 years and 32(64%) children were aged more than 10 years. The mean age of onset of disease in haemophilia A was 27.5 months (SD of 24.84; range 6-120) and in haemophilia B was 8 months (SD of 2.72; range 3-12). The mean BMI among children aged more than 10 years was more (21.35; SD= 4.02) compared to the children less than 10 years (16.87; SD= 3.41).Conclusions: The prevalence of overweight and obesity among children with Haemophilia is more in adolescent age group compared to children in the first decade.

Clinical Spectrum of Intracranial Bleeds in Patients with Bleeding Disorders- Experience from a Tertiary Center in Karnataka.

The most frequent emergency event in haemophilia and other bleeding disorders is intracranial haemorrhage (ICH), most of which is caused by trivial trauma, affecting around 3–10%. We studied the spectrum of presentation of ICH at our institute.METHODSThis was retrospective analysis of all patients with diagnosed or suspected bleeding diathesis and ICH presenting at the Clinical Haematology Department, BMCRI. They underwent complete coagulation workup, inhibitor screening, plain CT- brain and other relevant investigations.RESULTS3.26% of patients with bleeding disorders presented with ICH of over 2 years. M:F ratio was 13:1. 78.6% had Haemophilia A, 7.1% each had Haemophilia B, Factor XIII deficiency and Hypofibrinogenemia. 13 (92.9%) had severe Haemophilia A or B and 1 (7.1%) had mild Haemophilia B. Their ages ranged from 2 - 69 years. 50% were adults with the oldest being 69 years. Out of 7 children with Intracranial bleeds, 5 (71.4%) were <5 years. 2 (18.2%) with Haemophilia A had inhibitors. None were hypertensive. There was recent history of trauma in 9 (64.3%). All (100%) had severe headache, 21.4% had vomiting and 28.6% had seizures at presentation. Subdural haemorrhage was seen in 9 (64.3%), subarachnoid haemorrhage in 1 (7.1%), epidural bleed in 1 (7.1%), and intraparenchymal bleed in 3 (21.4%). All patients received appropriate factor replacement and supportive treatment. 9 (64.3%) received factor replacement only, 5 (35.7%) with SDH required additional burr hole evacuation. 2 (14.3%) patients died and 12 (85.7%) responded to treatment. None had sequelae in this series.CONCLUSIONS3.26% of our cohort presented with intracranial bleed over a period of two years. Majority with ICH were Haemophilia A and had severe deficiency with history of trauma. Headache is the commonest presentation and astute and keen clinical suspicion is paramount for instituting early treatment. SDH was most common in our series and majority responded to conservative management with factors.