Dataset Information

Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy: A case report.

ABSTRACT:

Background

Congenital factor VII deficiency (FVIID) is a rare autosomal recessive genetic disorder. The clinical manifestations of this deficiency vary greatly. Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult. Recombinant factor VIIa is the most common replacement therapy for FVIID. However, no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.

Case summary

We report the clinical history of a pregnant woman who was considered to have congenital FVIID. Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening. She successfully delivered a live infant without any complications, such as postpartum hemorrhage, neonatal abnormalities, and so on.

Conclusion

Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding.

SUBMITTER: Yang Y

PROVIDER: S-EPMC8316952 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Many diagnoses were excluded before reaching the diagnosis of MPS VII at 8 months of life. During the first year of life he had frequent respiratory infections associated with restrictive and obstructive bronchopneumopathy and underwent three surgical interventions: decompression of the spinal cord at the craniocervical junction, bilateral inguinal hernia, and bilateral clubfoot. At 14 months of life he underwent successful haematopoietic cell transplantation (HCT). During the following 10 months, his bronchopneumopathy progressively worsened, needing chronic pharmacological treatment and O2 administration. The patient died of respiratory insufficiency during a respiratory syncytial virus infection at 25 months of age. Molecular analysis showed the homozygous variant c.1617C?>?T, leading to the synonymous mutation p.Ser539=. This caused aberrant splicing with partial skipping of exon 10 (r.1616_1653del38) and complete skipping of exon 9 (r.1392_1476del85; r.1616_1653del38). No transcript of normal size was evident. The parents were both confirmed to be carriers. In a subsequent pregnancy, a prenatal diagnosis showed an affected fetus. Ultrasound examination before abortion showed NIHF. The skin and placenta examination by electron microscopy showed foamy intracytoplasmic vacuoles with a weakly electron-dense substrate. MPS VII is a very rare disease but it is possible that some cases go undiagnosed for several reasons, including that MPS VII, and other lysosomal storage diseases, are not included in the work-up for NIHF in many institutions, and the presence of anasarca at birth may be confounding for the recognition of the typical facial characteristics of the disease. This is the eighth patient affected by MPS VII who has undergone HCT. It is not possible to draw conclusions about the efficacy of HCT in MPS VII. Treatment with enzyme replacement is now available and will probably be beneficial for the patients who have a milder form with no or little cognitive involvement. Increased awareness among clinicians is needed for prompt diagnosis and to offer the correct treatment as early as possible.