Evans syndrome - ITP + AiHA (DAT +ve)

Thrombocytopenia-absent radius (TAR) syndrome - AR but m/b AD with variable penetrance ; char: by hypomegakaryocytic thrombocytopenia and absent radii

Flow cytometry of blood to detect low levels of CD59 and CD55 has now replaced Ham's test

as the gold standard investigation in PNH

Waldenström's macroglobulinemia (WM, "indolent lymphoma," is also known as lymphoplasmacytic lymphoma) is cancer affecting B cells

Criteria for diagnosis of Waldenstrom macroglobulinemia 1. IgM monoclonal gammopathy that excludes CLL and Mantle cell lymphoma 2. Evidence of anemia , constitutional symptoms , hyperviscosity , lymphadenopathy , or hepatosplenomegaly that can be attributed to underlying lymphoproliferative disorder

Waldenström macroglobulinemia is an indolent B-cell lymphoma with clonal lymphoplasmacytic infiltration of the bone marrow that secretes IgM in the blood, and a bone marrow biopsy will confirm the diagnosis.

Polycythemia

A. Relative - Dehydration, Gaisbock's Syndrome (Stress Polycythemia - Overweight, middle-aged white men who smoke, have HTN, and are on diuretics)

B. Absolute - distinguished by 51Cr labelled RBCs.

(1) Primary - Polycythemia vera - tyrosine kinase (JAK2) mutation; *neutrophil alkaline phosphatase (NAP) score is ^^, reduced serum EPO

Rx - venesection, Hydroxycarbamide (=Hydroxyurea), Alfa-interferon for women of child bearing age, low dose ASA

Prognosis - ~30% --> Myelofibrosis, ~5%-->A/c leukemia, monitor CBC/ 3mth ly

(2) Secondary

(i) Appropriate (high altitude, Chr Lung dz, Cyanotic Ht dz, Smoking)

(ii) Inappropriate (^^EPO secretion as in RCC, HCC, hemiangioblastoma, PKD)