Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation

Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway. The treatment of MKD focuses on the suppression of recurrent hyperinflammatory attacks using anti-inflammatory drugs. Recently, allogeneic hemato...

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Bibliographic Details
Published in:Frontiers in immunology 2021-12, Vol.12, p.782780
Main Authors: Kim, Hyery, Lee, Beom Hee, Do, Hyo-Sang, Kim, Gu-Hwan, Kang, Sunghan, Koh, Kyung-Nam, Im, Ho Joon
Format: Article
Language:English
Subjects:
acute myeloid leukemia
Biomarkers
Biopsy
Bone Marrow - pathology
Fatal Outcome
Female
Hematopoietic Stem Cell Transplantation
Humans
Immunology
In Situ Hybridization, Fluorescence
Infant
inflammation
Leukemia, Myeloid, Acute - complications
Leukemia, Myeloid, Acute - diagnosis
Leukemia, Myeloid, Acute - therapy
mavalonic kinase deficiency
Mevalonate Kinase Deficiency - complications
Mevalonate Kinase Deficiency - diagnosis
Mevalonate Kinase Deficiency - therapy
mevalonic aciduria
Mutation
Phosphotransferases (Alcohol Group Acceptor) - genetics
Sequence Analysis, DNA
Symptom Assessment
Transplantation, Haploidentical
Whole Exome Sequencing
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Summary:Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway. The treatment of MKD focuses on the suppression of recurrent hyperinflammatory attacks using anti-inflammatory drugs. Recently, allogeneic hematopoietic stem cell transplantation (HCT) was shown to successfully ameliorate autoinflammatory attacks in patients with MKD. Here, we report a case of an infant who showed severe recurrent systemic inflammation and was diagnosed with MA. Although she responded to steroids, her symptoms relapsed after the dose was tapered, and organ deterioration occurred. Therefore, at the age of 11 months, HCT from a matched, unrelated donor was performed for curative treatment. However, at 50 days after transplantation, acute myeloid leukemia was diagnosed, which was chemo-refractory. A second HCT from her haploidentical father was performed to treat the acute myeloid leukemia, but the patient died of sepsis on day 4 after transplantation. This is the first report of malignancy following HCT for MA. Our findings suggest that normalizing the mevalonate pathway after HCT in patients with MKD impacts patients differently depending on the clinical spectrum and severity of disease.
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2021.782780