Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia

Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We repor...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2018-03, Vol.176 (3), p.687-691
Main Authors: Bakshi, Nasir A., Al‐Anzi, Talal, Mohamed, Said Y., Rahbeeni, Zuhair, AlSayed, Moeen, Al‐Owain, Mohammed, Sulaiman, Raashda A.
Format: Article
Language:English
Subjects:
Adolescent
Alleles
Amino Acid Metabolism, Inborn Errors - blood
Amino Acid Metabolism, Inborn Errors - diagnosis
Amino Acid Metabolism, Inborn Errors - genetics
Biomarkers
Bone marrow
Bone Marrow - pathology
Bone Marrow Examination
Female
Genotype
Hematology
hemophagocytosis
Humans
Hypoplasia
Leukopenia
Male
methylmalonic acidemia
Methylmalonyl-CoA Mutase - genetics
Mutation
myelodysplasia
Myelodysplastic syndrome
Myelodysplastic syndromes
Pancytopenia
Pancytopenia - blood
Pathology
Phenotype
Sideroblasts
Thrombocytopenia
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Description
Summary:Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts. We discuss their management and outcome. This report emphasizes the need for bone marrow examination in these patients with refractory or unexplained severe cytopenia, to confirm bone marrow pathology, and to rule out other diseases with similar clinical presentation for a better clinical outcome.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38599