Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia. More detailed information about the symptoms, causes, and treatments of Alport syndrome with macrothrombocytopenia is available below.
See full list of 9 symptoms of Alport syndrome with macrothrombocytopenia
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Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often fails to be correctly diagnosed. Women with the condition tend to have heavy periods, since they actually have a bleeding disorder. Severe afflictions may result in the women receiving a hysterectomy unnecessarily, when the underlying cause has not been identified. See the introduction to Von Willebrand's disease and bleeding disorder....read more »
Read more about Misdiagnosis and Alport syndrome with macrothrombocytopenia
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Alport syndrome with macrothrombocytopenia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alport syndrome with macrothrombocytopenia, or a subtype of Alport syndrome with macrothrombocytopenia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Alport syndrome with macrothrombocytopenia as a "rare disease".
Source - Orphanet
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