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Living with Inherited acute myeloid leukemia

A rare blood cancer of the bone marrow linked to inherited conditions and gene changes that raise the risk.

Understanding Inherited acute myeloid leukemia

Inherited acute myeloid leukemia (AML) is a rare blood cancer that mainly involves the bone marrow, linked with inherited disorders and gene defects that raise the risk.

Related conditions include Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, and neurofibromatosis. Depending on the gene change, there may be extra cancer risks and other health problems.

Signs & symptoms

Symptoms vary from person to person. GARD lists these as the main signs:

  • Tiredness (fatigue)
  • Bleeding and bruising
  • Repeated infections
  • Bone pain
  • Swollen gums (gingivitis)
  • Enlarged spleen

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include blood and bone marrow specialists, cancer specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Blood and bone marrow specialists (hematologists); Cancer specialists (oncologists); 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 Blood Cancer United 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
Bring these questions to your next doctor visit
Which inherited gene change did testing find?
Do my relatives need genetic testing or screening?
What other cancer risks come with my gene change?

Quick facts

InheritanceAutosomal Dominant

It is linked with inherited disorders and gene changes that make AML more likely. GARD lists autosomal dominant inheritance, meaning one changed copy of the gene can be enough.

GeneticBlood

Also known as: familial aml; hereditary acute myeloid leukaemia; hereditary acute myeloid leukemia; inherited aml; pure familial acute myeloid leukaemia; pure familial acute myeloid leukemia

Patient organizations

Source: NIH GARD · Inherited acute myeloid leukemiaGARD ID 17450 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Inherited acute myeloid leukemia.

Explore the Inherited acute myeloid leukemia blog

Explore research for Inherited acute myeloid leukemia

Explore actively recruiting Inherited acute myeloid leukemia studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Inherited acute myeloid leukemia 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

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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