Overview
Familial platelet disorder with associated myeloid malignancy (FPD/AML), also known as familial platelet disorder with predisposition to acute myeloid leukemia or FPDMM, is a rare inherited blood disorder. It affects the way the body makes and uses platelets — the tiny blood cells that help stop bleeding. People with this condition are born with fewer platelets than normal (a condition called thrombocytopenia), and the platelets they do have often do not work properly. This means that even small cuts or injuries can lead to prolonged or unusual bleeding. Beyond the bleeding problems, the most serious concern with this condition is a significantly increased lifetime risk of developing blood cancers, particularly acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). These are cancers that affect the bone marrow and blood cells. The risk of developing one of these cancers over a lifetime is estimated to be around 20 to 60 percent, making regular monitoring extremely important. Treatment focuses on managing bleeding symptoms and closely watching for signs of blood cancer. Platelet transfusions may be used before surgery or during bleeding episodes. For those who develop leukemia or MDS, treatments include chemotherapy and, in some cases, stem cell transplantation, which is currently the only potentially curative option. Because this condition runs in families, genetic counseling is strongly recommended for all family members.
Also known as:
Key symptoms:
Lower than normal platelet count in the bloodEasy or unusual bruisingProlonged bleeding from cuts or injuriesFrequent nosebleedsHeavy or prolonged menstrual periods in womenBleeding gumsExcessive bleeding after surgery or dental proceduresFatigue and weakness (especially if blood cancer develops)Frequent infections (if bone marrow is affected)Unexplained weight loss (a warning sign of blood cancer)Night sweats (a warning sign of blood cancer)Pale skin due to low red blood cell counts
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
4 eventsM.D. Anderson Cancer Center — PHASE2
M.D. Anderson Cancer Center — PHASE1
Pepaxto: FDA approved
Treatment, in combination with dexamethasone, of adult patients with relapsed or refractory multiple myeloma who have received at least four prior lines of therapy and whose disease is refractory to at least one proteasome inhibitor, one immunomodulatory agent, and one CD-38 directed monoclonal antibody (Indication withdrawn)
National Human Genome Research Institute (NHGRI)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableBosulif
Adult and pediatric patients 1 year of age and older with chronic phase (CP) Philadelphia chromosome-positive chronic myelogenous leukemia (Ph+ CML), newly-diagnosed or resistant or intolerant to prio…
Adult and pediatric patients 1 year of age and older with chronic phase (CP) Philadelphia chromosome-positive chronic myelogenous leukemia (Ph+ CML), newly-diagnosed or resistant or intolerant to prior therapy
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
3 resourcesPepaxto
Oncopeptides AB
Neulasta
Amgen, Inc.
Neulasta Patient Support (Amgen Safety Net)
Travel Grants
No travel grants are currently matched to Familial platelet disorder with associated myeloid malignancy.
Community
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1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How often should I have blood tests and bone marrow checks to monitor for leukemia?,Should my family members be tested for the RUNX1 gene change, and how do we arrange that?,What activities or medications should I avoid because of my low platelet count?,What are the early warning signs of MDS or AML that I should watch for?,If I need surgery or a dental procedure, what precautions should be taken?,Am I a candidate for a stem cell transplant, and when would that be considered?,Are there any clinical trials I should know about for this condition?
Common questions about Familial platelet disorder with associated myeloid malignancy
What is Familial platelet disorder with associated myeloid malignancy?
Familial platelet disorder with associated myeloid malignancy (FPD/AML), also known as familial platelet disorder with predisposition to acute myeloid leukemia or FPDMM, is a rare inherited blood disorder. It affects the way the body makes and uses platelets — the tiny blood cells that help stop bleeding. People with this condition are born with fewer platelets than normal (a condition called thrombocytopenia), and the platelets they do have often do not work properly. This means that even small cuts or injuries can lead to prolonged or unusual bleeding. Beyond the bleeding problems, the most
How is Familial platelet disorder with associated myeloid malignancy inherited?
Familial platelet disorder with associated myeloid malignancy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Familial platelet disorder with associated myeloid malignancy?
Yes — 3 recruiting clinical trials are currently listed for Familial platelet disorder with associated myeloid malignancy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Familial platelet disorder with associated myeloid malignancy?
10 specialists and care centers treating Familial platelet disorder with associated myeloid malignancy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Familial platelet disorder with associated myeloid malignancy?
2 patient support programs are currently tracked on UniteRare for Familial platelet disorder with associated myeloid malignancy. See the treatments and support programs sections for copay assistance, eligibility, and contact details.