Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients – A Mere Coincidence?

Abstract

Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in congenital bone marrow failure syndromes, including FA. Here, we describe the clinical course of two independent FA patients with atypical – namely immune – thrombocytopenia. While in one patient belonging to complementation group FA-A, the ITP started at 17 months of age and showed a chronically persisting course with severe purpura, responding well to intravenous immunoglobulins (IVIG) and later also danazol, a synthetic androgen, the other patient (of complementation group FA-D2) had a self-limiting course that resolved after one administration of IVIG. No cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital bone marrow failure/tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed.

Treatment of immune-mediated cytopenias in patients with primary immunodeficiencies and immune regulatory disorders (PIRDs)

“…Furthermore, the treatment goal must be defined: In ES and warm autoimmune hemolytic anemia (AIHA), the international standard of care is to aim at the induction of remission as soon as possible, whereas the primary aim in chronic immune thrombocytopenia is to reduce the risk of bleeding while not compromising the quality of life. In conditions with hypersplenism, structural cytopenia, or bone marrow failure and simultaneous autoimmunity (eg, thrombocytopenia in Wiskott-Aldrich syndrome or immune thrombocytopenia in Fanconi anemia 10 ) it might be difficult to assess the relative contribution of each cause of cytopenia. The avoidance of irreversible, iatrogenic damage is of utmost importance in these complex situations.…”

Different presentations of thrombocytopaenia in children

“…Stwierdzenie u niego obecności przeciwciał przeciwko antygenom płytkowym potwierdziło rozpoznanie ITP. W obu sytuacjach małopłytkowość dobrze reagowała na dożylny wlew immunoglobulin (6) . Autoimmunologiczny zespół proliferacyjny (ALPS) jest rzadką, występującą rodzinnie chorobą.…”

A danazolkezelés hatása C1-inhibitor-hiány okozta hereditaer angiooedemás gyermekek növekedésére

“…Serdületlen Turner-szindrómás betegek esetében AA adásával gyorsítják a növekedést, ha a beteg csontkora elmarad a kronológiai kora mögött [35][36][37]. Ezenfelül az AA-k -gyermekeknél akár egyidejűleg is fennálló -Fanconi-féle anaemia és idiopathiás thrombocytopeniás purpura (ITP) kezelésére is használatosak [38], azonban egyik kórkép kezelése során sem észlelték, hogy kedvezőtlenül hatnának a kezelt gyermekek növe-kedésére.…”