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[Homozygous infant in a family with hereditary protein C deficiency]
Insights
This study details a rare case of homozygous protein C deficiency in an infant, presenting with delayed symptoms but successfully treated with prothrombin complex concentrate. Heterozygous carriers showed no increased thrombosis risk.
Area of Science:
- Genetics and Molecular Biology
- Hematology
- Pediatric Medicine
Background:
- Protein C deficiency is a rare inherited thrombophilia.
- Homozygous protein C deficiency is exceptionally rare, often presenting with severe neonatal thrombosis.
- Autosomal-recessive inheritance is suggested for severe forms of protein C deficiency.
Observation:
- A female infant from a consanguineous Jordanian family presented with homozygous protein C deficiency (0.6% antigen).
- Symptoms, including subcutaneous nodules and skin discoloration, manifested at 6 months of age, later than typically reported.
- The infant experienced recurrent microthrombotic events, particularly in areas with significant subcutaneous fat.
Findings:
- Despite homozygous deficiency, symptoms appeared later than in previously reported cases.
- Heterozygous carriers in the family did not exhibit an increased tendency for thrombosis.
- Treatment with prothrombin complex concentrate (PCC) was effective, resolving microthrombotic events and healing a large ulcer without heparin.
Implications:
- This case highlights the variable age of onset for homozygous protein C deficiency.
- Prothrombin complex concentrate is a viable treatment option for homozygous protein C deficiency, even in delayed presentations.
- Understanding the genetic and clinical spectrum of protein C deficiency is crucial for accurate diagnosis and management.
Abstract:
We report on a female infant homozygous for protein C deficiency in a Jordanian family with frequent intermarriage. A protein C antigen of 0.6% was determined. The parents first noticed painful nodular indurations in subcutanous tissue as well as blue-red skin coloration at the age of 6 months. The girl repeatedly suffered from microthrombotic events in parts of the body with large areas of subcutaneous fat. In contrast, the numerous heterozygous carriers with partial protein C deficiency did not show an increased tendency to thrombosis. From the history an autosomal-recessive inheritance may be inferred. Other authors reporting on homozygous cases also postulate the presence of a recessive gene. It is of interest that the infant described here differs from those in other case reports in the age at manifestation of the disease. The homozygous infant showed the first symptoms as late as the age of 6 months, whereas other case reports describe severe symptoms immediately after birth. All symptoms of disease were treated successfully with prothrombin complex concentrate without additional heparin protection. Microthrombotic events subsided quickly, and a large ulcer in the left flank healed almost completely within 6 days.