Living with Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
A rare genetic bleeding disorder starting in childhood, with nosebleeds, other bleeding, and stomach or gut ulcers.
Understanding Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
It starts in childhood with a tendency to bleed because platelets do not clump and release their contents properly. People may also have repeated ulcers in the digestive tract. Some have mildly low levels of clotting factor XI.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Nosebleeds
- Bleeding gums
- Bleeding in the digestive tract
- Blood in the urine (hematuria)
- Heavy periods (menorrhagia)
- Repeated ulcers in the digestive tract
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLA2G4A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 PLA2G4A gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of phospholipase a2, group iva; gastrointestinal ulceration, recurrent, with dysfunctional platelets; gurdp; pla2g4a (phospholipase a2 group iva) related platelet dysfunction; pla2g4a-related platelet dysfunction; platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder.
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