Sideroblastic anemia associated with multisystem mitochondrial disorders.

BACKGROUND: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children. RESULTS: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6-kb deletion in the PUS1 gene, part of the six-member family of pseudouridine synthases (pseudouridylases). Large homozygous deletions represent a novel cause of presumed PUS1-loss-of-function phenotype. The other three children with SA had Pearson syndrome (PS) due to mtDNA deletions of 4 to 8 kb; two of these children showed early onset of PS and died due to repeated sepsis; the other child had later onset of PS and survived as the hematological parameters normalized and the disease transitioned to Kearns-Sayre syndrome. In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, microcephaly, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor. CONCLUSIONS: Sideroblastic anemia was found in fewer than 1.2% of patients with multisystem mitochondrial disease, and it was usually associated with an unfavorable prognosis.

V/P scan in diagnosis and follow-up of pulmonary embolism in 15-25-year-old females in relation to hormonal contraception use.

BACKGROUND: An analysis of medical records of young females who were examined in our department during a five-year period (2005-2009) on suspicion of pulmonary embolism (PE) in relation to hormonal contraception (HC). MATERIAL AND METHODS: The patient sample included 86 young females aged 15-25 (mean 21) years who underwent a ventilation/ perfusion scintigraphy (V/P scan). Seventeen of them were examined repeatedly. Altogether, 114 scintigraphic examinations were performed. Lung perfusion scintigraphy was performed using a planar gamma camera (Mediso MB 9200) in 4 projections following 100 MBq 99mTc--MAA i.v. application with 81 mKr ventilation scintigraphy concurrently. RESULTS: 1. Among 57/86 (66%) patients on HC, 24 (42%) had scintigraphic signs of PE. 2. 11/57 (19%) of them had clinical signs of deep venous system thrombosis of the lower limbs that were confirmed by sonography. 3. Leiden mutation was found in 9/24 (37%) patients with PE. 4. Among 29/86 (34%) females not taking HC, PE was detected in only 3 patients (10%). 5. 10/17 (59%) repeatedly examined females had permanent post-embolic residual changes of lung perfusion. CONCLUSIONS: In our group of patients who underwent a P/V scan, 42% of those on HC were diagnosed with PE on scintigraphy, compared to 10% of those not taking HC. Among the patients with PE, there were 10/24 (42%) young females with persistent post-embolic changes. Our study indicates that the well-known risk of venous thromboembolism related to the use of HC needs to be considered as a cause of PE even among very young females. In our experience, prevention of these life-threatening conditions in patients with a family history of venous thromboembolism consists of timely examination of their thrombotic profile and selection of appropriate contraception.