Living with Familial isolated congenital asplenia
A rare inherited condition in which a baby is born without a working spleen, raising the risk of serious infections.
Understanding Familial isolated congenital asplenia
Without a working spleen, the immune system is weakened. Otherwise healthy infants may have severe, repeated infections, especially pneumococcal sepsis (a bloodstream infection). In adults with no early severe infection, a high platelet count may be the first sign. It is not part of a larger syndrome.
Signs & symptoms
GARD doesn't list common symptoms. It lists these findings as less common:
- Severe, repeated infections in infancy
- Absent spleen
- High platelet count (thrombocytosis)
- Howell-Jolly bodies on a blood smear
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 allergy and immune system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RPSA 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
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency 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 Immune Deficiency Foundation
- 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 RPSA gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: asplenia, familial; asplenia, isolated congenital; congenital hypoplasia of spleen; congenital microsplenia; congenital small spleen; hypoplasia of spleen
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial isolated congenital asplenia.
Explore research for Familial isolated congenital asplenia
Explore actively recruiting Familial isolated congenital asplenia studies with HealthSpark.
Find actively recruiting studies for Familial isolated congenital asplenia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial isolated congenital asplenia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial isolated congenital asplenia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial isolated congenital asplenia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.