A Confounding Case of Inherited Factor V Deficiency Complicated by Inhibitors at First Presentation.

INTRODUCTION: Inherited factor V deficiency / Owren's disease has varied clinical manifestations ranging from asymptomatic laboratory abnormalities to massive hemorrhage. The acquired form due to inhibitors following antibiotic therapy, infection, or surgery is less common, and spontaneous development of inhibitors is not known. CASE REPORT: An 18-year-old boy presented with bleeding axillary and groin ulcers. At the age of 15, due to recurrent epistaxis and gum bleed, he was diagnosed with acquired factor V deficiency with positive inhibitor screen and treated with fresh frozen plasma (FFP) transfusion and temporary azathioprine. Coagulation workup at his current presentation also revealed acquired factor V deficiency with presence of inhibitors. The tests were repeated after 6 weeks of intermittent FFP transfusion, and the differences observed included negative inhibitor screen and complete correction on mixing studies, but factor V level was 2%. DISCUSSION: Evidence of inhibitors at presentation favored acquired disease. However, younger age of onset, detection of inhibitors 1 year after first episode of self-regressing bleed, lack of identifiable triggers, and persistent bleeding with reduced factor levels after disappearance of inhibitors favored inherited factor V deficiency. CONCLUSION: In this case report, we have described an interesting case of severe inherited factor V deficiency with spontaneous appearance and disappearance of inhibitors exhibiting nonspecific factor inhibitory activity.

Successful management of Methemoglobinemia and G6PD deficiency in a patient posted for surgical excision of branchial cyst.

A 27-year-old female patient who came for branchial cyst excision was found to have cyanosis and a saturation gap during preanesthetic check-up and hence she was referred to haematology for further workup. She had a Hb of 9 gm% with all other baseline tests as normal. Blood samples were sent for methaemoglobin estimation and related work up to the National Institute of Immunohematology (NIIH) Mumbai. She was diagnosed as a case of Methemoglobinemia with a methaemoglobin level of 68.7% with NADH cytochrome B5 reductase activity of 10.82 IU/g Hb. The drug of choice for treatment is Methylene blue and hence G6PD deficiency had to be ruled out prior to initiating therapy. She was found to have a concurrent existence of G6PD deficiency. The blood sample was further sent to NIIH for genetic confirmation. We avoided methylene blue and other precipitating factors that could trigger a haemolysis. She was further consulted by the Patient blood management team to optimize her erythropoiesis and avoid unnecessary transfusions. Anaesthetic consultation and planning were done to avoid drugs that could induce haemolysis. She was started on Vitamin C, Niacin, hematinic and advised to follow up after a month. She was symptomatically better. Cyanosis had reduced, and Hb improved to 12 gm%. She was taken up for surgery with all precautions. The surgery and the post-operative period were uneventful. She was discharged on postoperative day 4 with an advice to continue Vitamin C & Niacin and to follow-up in Haematology OPD after a month.

Pneumococcal Bacteremia and Cryptococcal Meningitis Dual Infection in a Patient With Multiple Myeloma.

Infections remain one of the major complications in patients with multiple myeloma, having a significant impact on morbidity and mortality. The increased risk of infection in these patients are a result of various factors contributing to the impairment of immune system caused by the disease and the chemotherapy regimens given during the treatment phases. Here we report a rare case of pneumococcal bacteraemia and cryptococcal meningitis dual infection in a patient with underlying multiple myeloma who had a favourable clinical outcome. This case also serves to highlight the importance of adult vaccinations especially in patients with underlying comorbidities.

Cognition in type 2 diabetes: Association with vascular risk factors, complications of diabetes and depression.

BACKGROUND: The role of variables like duration of diabetes, diabetic control and microvascular complications in the causation of cognitive decline in patients with type 2 diabetes is not well studied. The contribution of hypertension to the cognitive decline in nondemented diabetic patients is unclear. AIMS: We wanted to see if cognition in patients with type 2 diabetes is associated with the duration of diabetes, control of diabetes, complications of diabetes, vascular risk factors, or depression. We also looked at association of noncompliance with cognition, and depression. SETTINGS AND DESIGN: We recruited ambulant patients with type 2 diabetes who are 55 years or more in age from the weekly diabetic clinic. We excluded patients with past history of stroke. METHODS AND MATERIAL: We selected the time taken for the Trial A test, delayed recall on ten-word list from Consortium to Establish a Registry for Alzheimer's Disease (CERAD), Rowland Universal Dementia Assessment Scale (RUDAS) and Centre for Epidemiologic Studies Depression scale (CES-D) screening instrument to assess these patients. STATISTICAL ANALYSIS USED: We utilized mean, standard deviation, Chi-square test and Pearson's correlation for statistical analysis. We considered P < 0.05 to be significant. RESULTS: RUDAS scores inversely correlated (r = -0.360) with CES-D scores (P = 0.002). Scores of the screening instrument for depression, the CES-D was associated with the duration of diabetes mellitus (P = 0.018), fasting blood glucose (P = 0.029) as well as with 2-hour post prandial blood glucose (P = 0.017). CONCLUSIONS: There is correlation between depression and global cognitive score. Depression seems to be associated with duration of diabetes and control of diabetes.