Rare bleeding disorders: spectrum of disease and clinical manifestations in the Pakistani population

Background@#Rare inherited coagulation factor deficiencies constitute an important group of bleeding disorders. A higher frequency of these disorders is seen in areas of high consanguinity.Our aim was to study the prevalence and spectrum of rare inherited bleeding disorders, characterize the severity of the deficiencies, identify different clinical manifestations, and evaluate different treatments provided. @*Methods@#This cross-sectional study was conducted in the Department of Haematology, Armed Forces Institute of Pathology Rawalpindi, between January 2014 and December 2018.A detailed history was taken, and an examination was performed. The signs and symptoms were noted, and the patients were diagnosed on the basis of a coagulation profile. The disease severity was assessed using factor assays. @*Results@#Among 2,516 patients with suspected coagulation disorders, 774 (30.8%) had an inherited bleeding disorder. Of the 774 patients, 165 (21.3%) had a rare bleeding disorder;91 (55.2%) of them were males, and 74 (44.9%) were females, with a male-to-female ratio of 1.2:1. The median patient age was 9 years 3 months. The most common disorder was factor VII deficiency (46 patients, 27.9%). The most common clinical presentation was bruising in 102 (61.8%) and gum bleeding in 91 (55.2%) patients. @*Conclusion@#The most common rare bleeding disorder in our population is factor VII deficiency. The prevalence of these bleeding disorders is high in our population due to a high number of consanguineous marriages.

Seroprevalence of transfusion transmissible infections in blood donors: a three year experience

Objective: To determine seroprevalence of transfusion transmissible infections [TTIs] in blood donors and to compare the present results with the data from studies conducted in past

Study Design: Descriptive study

Place and Duration of Study: Armed Forces Institute of Transfusion [AFIT], Rawalpindi from January 2010 to December 2012

Material and Methods: All the blood donors who had donated blood at AFIT during the three year study period were included. Prior to blood donation at the institute, all the donors were subjected to a preset, structured questionnaire to determine their eligibility for donation as per the criteria set by the institute. Donors7 serum samples were screened for hepatitis B virus [HBV], hepatitis C virus [HCV], human immunodeficiency virus [HIV] and syphilis by using HBsAg, anti-HCV, HIV antigen-antibody combination assay and syphilis antibody test, respectively. The repeatedly reactive samples were considered as true reactive

Results: A total 160552 blood donors were screened during the study period. The mean age of the donors was 29 ++/- 10.2 years [Range: 18 - 60 years]. Out of these, 158144 [98.5%] were male donors and 2408 [1.5%] were female donors. 7385 [4.6%] donors were volunteer and 153167 [95.4%] donors the replacement donors. The seroprevalence of TTIs in the donors for HBV, HCV, HIV and syphilis was 2385 [1.48%], 4194 [2.61%] 26 [0.02%] and 1520 [0.95%], respectively. The seroprevalence of HBV was higher and statistically significant [p value<0.05] in Gp-II [31-45 years] and the seroprevalence of both HCV and Syphilis was higher and statistically significant [p value <0.05] in both GP-II [31-45 years] and GP-III [46 years and above] when compared with overall seroprevalence of the respective infections in all age groups

Conclusion: This study highlights that the seroprevalence of HBV and HCV is decreasing in our blood donors, but still it is an important risk factor for spread of these infections. The seroprevalence of HIV is rising gradually in the blood donors

Comparison of serum lipid profile in ishaemic and haemorrhagic stroke

To compare serum lipid profile between patients of ischaemic and haemorrhagic strokes. Cross sectional, comparative study. Military Hospital, Rawalpindi, from August 2004 to February 2005. Patients with diagnosis of stroke comprising 100 consecutive patients each of ischaemic and haemorrhagic strokes were included in the study while patients on lipid lowering therapy were excluded from study. To determine the subtype of stroke, clinical examination followed by CT scan of brain was done. A serum sample after 8 hours of overnight fasting was taken on the next day of admission for both groups of patients. Total serum cholesterol, triglycerides, LDL-cholesterol, VLDL-cholesterol and HDL-cholesterol was determined, using enzymatic colorimetric method. Statistical analysis was done by comparison of lipid profile in two subgroups, using proportion test for any significant difference. The mean age at presentation of patients with stroke was 64.2 +/- 12 years with a male to female ratio of 3.6:1. In 100 ischaemic stroke patients, raised serum total cholesterol was seen in 42, triglyceride in 04, LDL-cholesterol in 05 and VLDL-cholesterol in 07 patients. Serum HDL- cholesterol was below the normal reference in 31 cases. On the other hand, serum total cholesterol and triglycerides was raised in 05 patients each, LDL-cholesterol in 09 and VLDL-cholesterol in 03 patients of haemorrhagic stroke. Serum HDL-cholesterol was below normal in 04 patients of haemorrhagic stroke. On comparison, there were significantly greater number of patients with raised srum cholesterol and low HDL-cholesterol in ischaemic stroke than haemorrhagic stroke [p < 0.05]. No statistical significance was found on comparing serum values of ischaemic and haemorrhagic stroke for triglycerides, LDL-cholesterol and VLDL-cholesterol. Ischaemic stroke patients had high serum total cholesterol and lower HDL-cholesterol levels as compared to haemorrhagic stroke. High risk patients of stroke may be screened using srum lipid profile and further studies are suggested to evaluate the effect of lipid lowering therapy in terms of morbidity and mortality in ischaemic stroke patients

Allergic broncho-pulmonary aspergillosis presenting as flitting opacities on chest radiograph

Allergic broncho-pulmonary aspergillosis [ABPA] is hypersensitivity reaction to Aspergillus fumigatus in the bronchial tree of young asthmatic patients. A 28 years old female patient presented with one year history of fever with generalised body aches and pains and had already received treatment for pulmonary tuberculosis. Her chest radiograph showed flitting opacities in both lung fields with a TLC of 13.2 x10[9]/L having 25% eosinophils and ESR of 87 mm at first hour. Her serum IgE were markedly raised and CT scan of the chest showed dilated large and medium sized bronchi forming mucocoeles, finger in glove appearance and nodular shadowing in the lung parenchyma. Sputum also showed fungal hyphae by direct microscopy. All the findings were consistent with the diagnosis of ABPA, which responded to oral Itraconazole and Prednisolone. ABPA is a potentially destructive lung disease requiring high index of suspicion for an early diagnosis to prevent irreversible lung damage

Primary perisplenic hydatid cyst

Splenic parasitic cysts due to flat worm Ecbinococi resuling in hydatid disease are a rare presentation as primary site even in the endemic regions. Primary splenic parasitic cysts have an incidence of 0.5-4%. A 21-year-old male with pet dogs at home, presented with 3 months history of gradually increasing discomfort in the left hypochondrium and tender splenomegaly. He had marked eosinophilia with normal liver function tests and positive serum IgM Echinococcus antibodies. Ultrasonography showed a cyst in the hilar region of spleen having septations with internal echos. An upper midline laparotomy was performed and a perisplenic cyst was removed along with spleen from the sub-diaphragmatic location. Histopathological examination confirmed acellular fibrous wall of hydatid cyst with germinal layer and scolices in the centre. Postoperatively, patient was continued on oral Albendazole for one month

Ruptured ovarian teratoma presenting as peritonitis

A 55-year-old lady reported to the surgical OPD with clinical findings of acute peritonitis. Emergency laparotomy was performed. The peritoneal cavity was full of purulent material, however, the gut was normal. An 8 x 6 cm thick walled cyst was found in the left ovary with a minute perforation and purulent fluid coming out of it. Thorough peritoneal lavage along with left oophorectomy was performed. The postoperative recovery was smooth. Histopathology confirmed benign cystic teratoma of ovary

Acute acalculous perforated cholecystitis

A case of acute acalculous perforated cholecystitis with acute generalized peritonitis in a middle aged cachectic man, presenting late in a moribund condition, is reported. He underwent emergency laparotomy [subtotal cholecystectomy], went into multi-organ failure and was managed accordingly. The patient recovered in about 2 weeks and was followed-up regularly

To compare the relapse rate of artesunate with tetracycline and quinine with tetracycline in uncomplicated falciparum malaria

To determine the relapse rate of falciparum malaria treated with artesunate plus tetracycline [AT] versus quinine plus tetracycline [QT] in uncomplicated patients of malaria. A cross sectional comparative study was carried out at Combined Military Hospital, Quetta from 01 May to 30 November 2006. Ninety patients of age-sex matched group with uncomplicated falciparum malaria having parasitemia >1%, age between 14-65 yrs, either sex and with no previous malaria treatment related to the present attack were recruited from emergency department, medical wards, included in the study. One group was given quinine along with tetracycline [QT] and the other group was given artemesinin and tetracycline [AT]. The patient was discharged from the hospital when three negative blood smears were obtained. Thereafter, blood smears were taken at days 7, 14, 21 and 28 after the start of the treatment, as outdoor patients. Parasitological response was regarded as radical cure with parasite clearance by day 7 without recrudescence up to day 28. Fever and parasite clearance times were noted as the time from the initiation of treatment to the first of three consecutive normal axillary temperature readings [<37°C] or negative blood peripheral film slides, respectively. Out of 90 patients of falciparum malaria, treatment was completed in 85 patients. The cure rates using treatment with AT was effective in 35 of 45 [77.7%] while QT was effective in 34 of 45 [75.5%] of the patients without any statistically significant difference [p = 0.68]. Poor compliance with the treatment schedule was observed in 2 of 45 [4.4%] in the AT group and 4 of 45 [8.8%] QT group of patients. Cure rates of 95.5% and 91.1% would have been obtained in the AT and QT groups if only compliant patients [n = 69] were considered. Parasitemia at day two cleared faster in the AT group than the QT group [91.1% versus 44.4%, respectively; p-value <0.001]. Combination of artesunate plus tetracycline is effective in the treatment of uncomplicated falciparum malaria and may provide a useful alternative to other treatment regimens

Retroperitoneal masses: different clinical scenarios

We present two cases of retroperitoneal masses with different presentations and outcomes. The first case was a 22 years old primigravida lady who underwent emergency caesarean section for preterm premature rupture of membranes with breach. On the operating table, a large retroperitoneal mass was identified and the biopsy confirmed Burkitt's lymphoma. Post operative chemotherapy did not have a favourable result and the patient had a fatal outcome. The other case was a 15 years old boy who had a progressively increasing retroperitoneal mass. Exploratory laparotomy revealed a hard, fixed, unresectable tumour extending into the mesentery of the small gut, biopsies were taken which showed tuberculosis. Post operative antituberculosis treatment had a marked response and the tumour disappeared after 6 months

Paroxysmal nocturnal hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria [PNH] literally means to have episodes of hemoglobin in the urine during the night. It is a Coomb's negative rare hemolytic disorder characterized by non-malignant clonal expansion of haemopoietic stem cells due to acquired genetic mutations. A 30 years old male patient presented with 5 years history of transfusion dependent anemia with intermittent episodes of passing dark colored urine in the morning. Blood complete picture showed decreased hemoglobin and reticulocytosis upto 30%. Coomb's test was negative with unconjugated hyperbilirubinemia and markedly raised serum LDH. Urine analysis showed marked hemosiderinuria and flow cytometry revealed 60% RBCs deficient for CD-59, confirming the diagnosis of paroxysmal nocturnal hemoglobinuria. The management of the patient depends on whether anemia is due to hemolysis or as consequence of impaired erythropoiesis. Corticosteroids at a dose of 0.25-1 mg/kg/day was selected as it is amongst the various treatment options in patients with predominant hemolysis

Pierre Robin sequence as birth asphyxia in a new born

A new born baby boy presented with birth asphyxia and respiratory distress. He went into cardiac arrest twice but was resuscitated. On detailed evaluation, he had low set ears and micrognathia with glossoptosis consistent with features of Pierre Robin sequence. Episodes of apnoea disappeared, on nursing, the baby in prone position and later on tongue-lip retention suture were applied. Prompt diagnosis and efficient airway management by following the principles of airway resuscitation can save the lives of such babies without specialized care

Cholecysto-hydatid cyst fistula

We present a case of recurrent hydatid cyst liver in a 32-year-old female. Previous surgery was performed 8 years ago elsewhere. Pre-operative assessment at presentation revealed a 110 x 105 mm hydatid cyst in the right lobe of the liver. On exploration, a 5 mm fistulous communication was found between the hydatid cyst and the gallbladder. Patient was subjected to endocystectomy [partial cystectomy], cholecystectomy and closure of the fistula followed by obliteration of the cavity with omentum. Postoperative recovery was uneventful

Clinicohaematological features of iron deficiency anaemia in children between 1-5 years of age

To study the clinicohaematological features of iron deficiency anaemia in children between 1-5 years of age. Children between 1-5 years of age suffering from iron deficiency anaemia were included in this study. Personal and family data was obtained for each child. Height and weight were recorded and degree of malnutrition determined as per modified Gomez classification. Samples for blood counts were taken in K[3]EDTA and complete blood counts were performed. Differential leucocyte count and RBC morphology was done by visual reviewing of slides. Ferritin was measured for each patient. Cut off value for defining anaemia was set at 11 g/dl as per WHO criteria. SPSS computer software was used for mean and SD calculations. Different clinical features were cross tabulated with measured Hb levels to evaluate their correlation. Chi-Square test was used to see the significant level. A total of 191 patients were studied with mean age of 1.9 [SD 0.89] years. Male to female ratio was 2:1. Overall, 121[63.3%] children had varying degrees of malnutrition. Mean Hb was 8.2 g/dl [SD 1.3]. Majority of the patients [62.3%] had Hb between 6.1-8 g/dl. Sixty patients had Hb>8 g/dl while 12 had Hb

Comparison of 24 hour urine albumin and spot urine albumin to creatinine rattio as a predictor of diabetic nephropathy

Twenty four hours urine albumin is frequently used for prediction of the extent of nephropathy. Spot urine albumin to creatinine ratio has been recently introduced as an alternative to 24 hours urine albumin. Aims and objectives of the current study were to compare and contrast 24 hours urine albumin and spot urine albumin to creatinine ratio as a predictor of nephropathy. Two hundred cases of diabetes were selected for 24 hours urine albumin and spot urine albumin to creatinine ratio. Urine samples containing RBC 's or pus cells were excluded from the study. Twenty four hours urine albumin was estimated by pyrogallol method. First morning urine specimen was used for albumin to creatinine ratio. Creatinine was estimated by Jaffe reaction on semi-automated analyzer. Results revealed that mean 24 hours urine albumin was 693 mg/24 hours [reference range < 30 mg/24 hours], while mean albumin to creatinine ratio was 22.7 mg/mmol [reference range < 3 mg/mmol]. Fifty seven cases were having microalbuminuria, 103 cases had macroalbuminuria whereas 40 cases had normal urine albumin. Forty eight cases showed albumin to creatinine ratio in the normal range, 88 cases in microalbuminuria range while 64 cases had albumin to creatinine ratio in macroalbuminuric range. Correlation of 24 hours urine albumin versus urine albumin to creatinine ratio was 0.97, p value < 0.01. It was concluded that there was no significant difference between 24 hours urine albumin and spot urine albumin to creatinine ratio as a predictor of nephropathy, besides yielding immediate results and spot convenient sampling. It is recommended that spot urine albumin to creatinine ratio is a simple, clear, attractive and right predictor of nephropathy and can safely replace 24 hours urine sample for convenience of the patient, pathologist as well as the physician

Comparison of response between food supplemented with powdered iron in syrup form for iron deficiency anemia

To evaluate and compare the response between food supplemented with iron in powdered and iron in syrup forms for the treatment of iron deficiency anemia in children aged 1-5 years. Design: Quasi-experimental study. Place and Duration of Study: This study was conducted at Combined Military Hospital, Multan, from January 2000 to December 2000. Patients and Consecutive 200 cases of iron deficiency anemia, aged 1-5 years, were included in the study. Diagnosis was based on history, physical examination, complete blood counts [CBC] and serum ferritin levels. The patients were randomized to receive either iron in syrup form [Group A] or equivalent doses of iron powder sprinkled over food [Group B]. The patients were followed up with hemoglobin estimation [Hb] and reticulocyte response at 2 weeks, 4 weeks and 6 weeks. CBC and serum ferritin were repeated at 6 weeks. Over half [51%] of the patients were between 1-2 years of age. One hundred thirty-two were males and 68 females. Most of the patients belonged to poor socioeconomic class. The iron in powder form was better tolerated than iron syrup as this group witnessed fewer episodes of gastrointestinal disturbances. The rise in mean Hb level after 6 weeks of treatment in group A and B was 1.6 g/dl and 1.9 g/dl respectively. Hemoglobin rise in group B was more than group A but this was statistically non-significant [p > 0.05]. There was small but significant [p < 0.05] rise in serum ferritin in both the groups. There was no significant difference between the two groups for response to the two forms of iron administration. The powdered form of iron is a cost-effective and better tolerated method of iron administration in children and can be considered as an alternate option for the treatment of iron deficiency anemia in children