Late diagnosis of congenital amegakaryocytic thrombocytopenia due to compound heterozygous MPL mutations
Late diagnosis of congenital amegakaryocytic thrombocytopenia due to compound heterozygous MPL mutations
We describe a young woman in her early twenties who was misdiagnosed with chronic immune thrombocytopenia for over two decades. She presented with refractory thrombocytopenia and later developed thrombotic thrombocytopenic purpura. Genetic analysis ultimately revealed compound heterozygous pathogenic variants in the MPL gene, confirming congenital amegakaryocytic thrombocytopenia due to MPL mutations (CAMT-MPL). This case highlights the critical role of genetic testing in patients with therapy-resistant thrombocytopenia and the importance of distinguishing CAMTMPL from other inherited bone marrow failure syndromes.
Lwaleed, Bashir
e7c59131-82ad-4a14-a227-7370e91e3f21
Kazmi, Rashid Saeed
14749c02-b59e-4e2c-af6e-fea40de52563
Lwaleed, Bashir
e7c59131-82ad-4a14-a227-7370e91e3f21
Kazmi, Rashid Saeed
14749c02-b59e-4e2c-af6e-fea40de52563
Lwaleed, Bashir, Kazmi, Rashid Saeed and Masaiti,, Prudence
(2026)
Late diagnosis of congenital amegakaryocytic thrombocytopenia due to compound heterozygous MPL mutations.
BMJ Case Reports.
(In Press)
Abstract
We describe a young woman in her early twenties who was misdiagnosed with chronic immune thrombocytopenia for over two decades. She presented with refractory thrombocytopenia and later developed thrombotic thrombocytopenic purpura. Genetic analysis ultimately revealed compound heterozygous pathogenic variants in the MPL gene, confirming congenital amegakaryocytic thrombocytopenia due to MPL mutations (CAMT-MPL). This case highlights the critical role of genetic testing in patients with therapy-resistant thrombocytopenia and the importance of distinguishing CAMTMPL from other inherited bone marrow failure syndromes.
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Accepted/In Press date: 12 May 2026
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Local EPrints ID: 511873
URI: http://eprints.soton.ac.uk/id/eprint/511873
ISSN: 1757-790X
PURE UUID: c7c9bafd-c5bf-442a-9caf-ed74a57c74ec
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Date deposited: 08 Jun 2026 16:52
Last modified: 09 Jun 2026 01:39
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Author:
Rashid Saeed Kazmi
Author:
Prudence Masaiti,
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