Is genetic screening necessary for determining the possibility of venous Thromboembolism in Cancer patients?

To determine the risk of an association with some genetic polymorphisms involved in venous thromboembolism [VTE] gene variations [FVL, FV H1299R, FII G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, beta-fbrinogen -455 G - A, FXIII Val34Leu and GpIIIa HPA-1a] in cancer patients. Among 78 cancer patients, 28 who had proven first episode of VTE were selected as the patient group, with 50 control samples selected from age-, sex- and body mass index-matched healthy volunteers [healthy group]. The differences in frequency of genetic polymorphisms were found to be statistically insignificant between these two groups. Logistic regression analysis after adjustment for age, sex, smoking and hypertension showed no difference. The screened mutations of these genes were not significantly associated with VTE risk. There is no possible benefit from genetic screening tests regarding VTE in cancer patients

case of Henoch-Schonlein purpura with P369S mutation in MEFV gene

Henoch-Schonlein purpura [HSP] is the most common vasculitis of childhood. HSP can affect multiple organs presenting with a characteristic rash in most of the patients. Familial Mediterranean Fever [FMF] is an inherited inflammatory disease common in mediterranean populations. HSP is the most common vasculitis seen in children with FMF. A 16 year old boy was referred with history of abdominal pain lasting for 20 days. He was hospitalized and had appendectomy. Due to the persistence of his abdominal pain after surgery he was admitted to our hospital. His physical examination showed palpable purpuric rashes symmetrically distributed on lower extremities. Abdominal examination revealed periumbilical tenderness. Laboratory tests showed elevated erythrocyte sedimentation rate, C-reactive protein and fibrinogen. Urinalysis revealed microscopic hematuria and severe proteinuria. The fecal occult blood testing was positive. Based on these clinic findings, the patient was diagnosed as HSP with renal, gastrointestinal tract and skin involvement. We performed DNA analysis in our patient because he had diagnosis of vasculitis with severe symptoms and found that he was carrying heterozygote P369S mutation. Our case is noteworthy as it indicates that it may be important not to overlook presence of FMF mutations in patients with a diagnosis of severe vasculitis