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[Homozygous protein C deficiency can be detected by prenatal diagnosis]
A Jerkeman1, P Henriksson, N O Jonsson
1Sektionen för hematologi/koagulation, Universitetssjukhuset MAS, Malmö.
Insights
Homozygous protein C deficiency (HPCD) is a rare, life-threatening coagulopathy. Identifying specific gene mutations allows for crucial prenatal diagnosis in affected families.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Homozygous protein C deficiency (HPCD) is a rare genetic disorder with severe coagulopathy and high mortality.
- Purpura fulminans is a critical manifestation of HPCD, often leading to organ damage and fetal demise.
- The protein C anticoagulant pathway is vital for hemostasis, and its deficiency presents significant clinical challenges.
Observation:
- The article details a family experiencing two infant deaths due to congenital HPCD.
- Over 160 distinct point mutations in the protein C gene have been identified, advancing diagnostic capabilities.
- The specific mutation responsible for HPCD in this family was identified.
Findings:
- Identification of a unique point mutation in the protein C gene within the affected family.
- This genetic identification enabled successful prenatal diagnosis in a subsequent pregnancy.
- The case underscores the importance of genetic analysis in managing rare inherited coagulopathies.
Implications:
- Enables targeted genetic counseling and reproductive planning for families with HPCD.
- Facilitates early intervention and management strategies through prenatal diagnosis.
- Contributes to a deeper understanding of protein C gene mutations and their clinical impact.
Abstract:
Homozygous protein C deficiency (HPCD) with purpura fulminans is a rare condition with an estimated incidence of 1-2 per 400,000 births. About 20 case reports have appeared since the first one was published in 1983. HPCD provides an excellent illustration of the fundamental importance of the protein C anticoagulant pathway. This severe coagulopathy results in serious organ damage, often already in utero, and without treatment it is incompatible with life. The treatment options include fresh frozen plasma and protein C concentrate in the acute phase, followed by oral anticoagulant therapy. Over 160 different point mutations in the protein C gene have been identified in recent years, offering new possibilities for prenatal diagnosis. The article describes the case of a family who lost two children with congenital HPCD. But where the specific point mutation was identified thus enabling prenatal diagnosis to be performed in a subsequent pregnancy.