Living with Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
A rare genetic condition with blood clots in the brain and liver veins, enlarged head, and ongoing absence seizures.
Understanding Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
It is a congenital disorder of glycosylation. It causes clots in veins of the brain and liver (portal vein), high pressure in the portal vein, a larger than usual head, and persistent absence seizures. Some people have mild to moderate developmental delay, intellectual disability, and low platelets. Brain imaging may show stroke damage and shrinking. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blood clot in the portal vein
- Blood clots in other veins
- Absence seizures (staring spells)
- Enlarged liver and spleen
- High pressure in the portal vein
- Delayed speech and language
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PIGM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PIGM gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: congenital disorder of glycosylation due to pigm deficiency; glycosylphosphatidylinositol biosynthesis defect 1; gpibd1; pigm-cdg
Patient organizations
- CDG CAREHypercoagulability syndrome due to glycosylphosphatidylinositol deficiency · United States
- Epilepsy FoundationEpilepsy · United States
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