Living with Hereditary thrombocytosis with transverse limb defect
A rare genetic syndrome with a high platelet count and a hand or forearm that is shorter or missing on one side.
Understanding Hereditary thrombocytosis with transverse limb defect
The limb difference is on one side only and ranges from missing finger bones to a missing hand or forearm. People also have an enlarged spleen. It starts in the newborn period or infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, it can include:
- High platelet count (thrombocytosis)
- Shorter or missing part of a limb on one side
- Enlarged spleen
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, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in THPO 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); Bone and joint specialists (orthopedists or orthopedic surgeons); 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
It is caused by changes in the THPO gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: familial thrombocytosis with transverse limb defect; thrombocythemia with distal limb defect; thrombocythemia with distal limb defects
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
You are more than your diagnosis
Perspectives from people navigating life with Hereditary thrombocytosis with transverse limb defect.
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