Living with Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
A genetic condition with large, low-count platelets and easy bruising. It can also affect hearing, kidneys, and eyes.
Understanding Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Everyone with it has a low platelet count (thrombocytopenia) and platelets that are larger than normal. Some people also develop hearing loss, kidney disease, or early cataracts (clouding of the eye lens). Not everyone has all the features. Symptoms can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy bruising
- Heavy bleeding during periods (menorrhagia)
- Frequent nosebleeds
- Giant platelets and low platelet count
- Hearing loss from the inner ear
- Kidney problems and early cataracts
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, ear, nose, and throat specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in MYH9 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); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 Platelet Disorder Support Association 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 MYH9 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough to cause it.
Also known as: alport syndrome with macrothrombocytopenia; bleeding disorder, platelet-type, 6; dohle leukocyte inclusions with giant platelets; epstein syndrome; fechtner syndrome; giant platelet syndrome with thrombocytopenia
Patient organizations
- Platelet Disorder Support AssociationMacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.
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