Living with DDX41-related hematologic malignancy predisposition syndrome
A rare inherited condition that raises the chance of certain blood cancers in adulthood.
Understanding DDX41-related hematologic malignancy predisposition syndrome
The cancers mainly affect myeloid cells, a type of blood cell. They include myelodysplastic syndrome and acute myeloid leukemia. Some people also develop immune-related problems such as sarcoidosis, lupus, asthma, eczema, or juvenile arthritis, sometimes before or without a blood cancer.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these health problems:
- Myelodysplastic syndrome
- Acute myeloid leukemia
- Sarcoidosis or lupus
- Asthma or eczema
- Juvenile arthritis
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 cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in DDX41 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
Aplastic Anemia and MDS International Foundation and The MDS Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Aplastic Anemia and MDS International Foundation, The MDS 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 Aplastic Anemia and MDS International Foundation 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 DDX41 gene cause this condition.
Also known as: ddx41 hereditary neoplastic syndrome; hereditary neoplastic syndrome caused by mutation in ddx41; mplpf; myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
Patient organizations
- Aplastic Anemia and MDS International FoundationDDX41-related hematologic malignancy predisposition syndrome · United States
- The MDS FoundationDDX41-related hematologic malignancy predisposition syndrome · United States
- Blood Cancer UnitedDDX41-related hematologic malignancy predisposition syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with DDX41-related hematologic malignancy predisposition syndrome.
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