A 56 year old lady comes to medicine OPD with chief complains of headache, dizziness and generalized itching paicularly after taking hot shower. She also complained of intense burning in hands and feet as shown. She repos that taking aspirin relieves her of this issue. Physical examination: splenomegaly with raised BP. Blood workup shows: HB- 20.1 g/dl Hematocrit-60-% WBC-15800 platlet count- 500000 EPO- low spO2 - 98% LAP- increased. The patient was diagnosed with JAK2V617F mutation. Which of the following HPE slides correspond to above clinical condition?
The clinical and blood investigation reveal the diagnosis of Polycythemia vera. The image of foot shows erythromelalgia. ERYTHROMELALGIA Characterized by burning pain and erythema. Feet > hands Males > females. Most common in middle age. It may be primary (also termed erythermalgia - Mutations in the SCN9A gene) Secondary erythromelalgia myeloproliferative disorders such as polycythemia vera and essential thrombocytosis. drugs, such as calcium channel blockers, bromocriptine, and pergolide neuropathies connective tissue diseases such as SLE paraneoplastic syndromes. The symptoms are relieved by: cool air / water / by elevation. There is no specific treatment; aspirin may produce relief in patients with erythromelalgia secondary to myeloproliferative disease. Treatment of associated disorders. HPE show- Marrow cavity replaced by fibrous tissue: myelofibrosis Promyelocytic leukemia cells with prominent cytoplasmic primary granules. Chronic lymphoid leukemia POLYCYTHEMIA VERA mutation JAK2 : replaces valine with phenylalanine (V617F), leading to constitutive kinase activation-- PV pathogenesis. CLINICAL FEATURES Isolated thrombocytosis Leukocytosis splenomegaly high hemoglobin, hematocrit, or red cell count Aquagenic pruritus : distinguish PV from other causes of erythrocytosis. Uncontrolled erythrocytosis fuher causes Hyperviscosity -Neurologic symptoms such as veigo, tinnitus, headache, visual disturbances, and transient ischemic attacks (TIA) Systolic hypeension: feature of the red cell mass elevation venous or aerial thrombosis may be the presenting manifestation of PV. Digital ischemia easy bruising epistaxis acid-peptic disease gastrointestinal hemorrhage TREATMENT Polycythemia Vera Periodic Phlebotomy serves initially to reduce hyperviscosity by reducing the red cell mass while expanding the plasma volume. Anticoagulants : Thrombosis Allopurinol Generalized pruritus : JAK1/2 inhibitor, ruxolitinib, pegylated interferon a (IFN-a), psoralens with ultraviolet light in the A range (PUVA) therapy, and hydroxyurea for palliation. Symptomatic splenomegaly : Either ruxolitinib or pegylated IFN-a.
<img style="max-width: 100%" src=" />
<img style="max-width: 100%" src=" />
<img style="max-width: 100%" src=" />
None of the above.
Integrated QBank