Deutsche medizinische Wochenschrift (1946) · 2004
[Vitamin B6-sensitive hereditary sideroblastic anemia].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Heller T, Höchstetter V, Basler M, Borck V
Аннотация
HISTORY: A 30-year-old patient was admitted for investigation of microcytotic, hypochromic anemia (hemoglobin 8.3 g/dl) with splenomegaly.
INVESTIGATIONS: Bone marrow smear showed a normocellular marrow with augmented severely dysplastic erythropoesis. Prussian-blue staining revealed an increased number of ring sideroblasts, thus myelodysplastic syndrome (refractory anemia with ringsideroblasts) was suspected.
DIAGNOSIS AND TREATMENT: Review of former laboratory values and investigations of the patient's family revealed the correct diagnosis of x-linked sideroblastic anemia (XLSA). The patient was treated with oral pyridoxine. Hemoglobin levels steadily increased, so the diagnosis of pyridoxine-responsive sideroblastic anemia was made. Liver biopsy showed secondary fibrosis with beginning cirrhosis due to iron overload. Therapy with deferoxamine and phlebotomies was initiated.
CONCLUSION: XLSA is a rare differential diagnosis of acquired forms of sideroblastic anemias. A high degree of clinical suspicion is necessary for diagnosis because morphological studies such as histology and cytology may not yield conclusive results. A correct diagnosis is especially important because of the uncomplicated therapeutic options.
INVESTIGATIONS: Bone marrow smear showed a normocellular marrow with augmented severely dysplastic erythropoesis. Prussian-blue staining revealed an increased number of ring sideroblasts, thus myelodysplastic syndrome (refractory anemia with ringsideroblasts) was suspected.
DIAGNOSIS AND TREATMENT: Review of former laboratory values and investigations of the patient's family revealed the correct diagnosis of x-linked sideroblastic anemia (XLSA). The patient was treated with oral pyridoxine. Hemoglobin levels steadily increased, so the diagnosis of pyridoxine-responsive sideroblastic anemia was made. Liver biopsy showed secondary fibrosis with beginning cirrhosis due to iron overload. Therapy with deferoxamine and phlebotomies was initiated.
CONCLUSION: XLSA is a rare differential diagnosis of acquired forms of sideroblastic anemias. A high degree of clinical suspicion is necessary for diagnosis because morphological studies such as histology and cytology may not yield conclusive results. A correct diagnosis is especially important because of the uncomplicated therapeutic options.