PB1311 - Undetected May-Hegglin case from Kuwait masquerading as ITP for 11 years

Background: may-hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by low count of giant platelet and neutrophils with abnormal cytoplasmic inclusions. Patient may present with easy bruising, epistaxis, mucocutaneous bleeding and menorrhagia, which can be easily missed with other more common platelet disorders.

Aims: To re-evaluate the patient who was labeled as chronic ITP as the clinical features were not compatible with such diagnosis

Methods: Retrospective analysis from medical records at NBK children’s hospital in Kuwait.

Results: A female Kuwaiti patient presented at the age of 15 months by history of bleeding and easy bruising followed by recurrent episodes of epistaxis. This clinical presentation led to the diagnosis of immune thrombocytopenia (ITP). She received multiple courses of IVIGs and steroids and later labeled as chronic ITP. At the age of 11 years, she was referred to NBK children’s hospital for further follow up as a refractory ITP case. A few months later, she was admitted with heavy vaginal bleeding and was found to have thrombocytopenia and received IVIG for 2 days.
Initial investigations including CBC and blood film showed: WBCs 3.78 109/L ANC 1.48 109/L HB 120 gm/L ,PLTs 35 109/L and blood film showed Large and giant platelets with Dohle body were seen (MHA). Coagulation profile was normal as well as factor XIII and VW antigen & activity.
Genetic analysis showed heterozygous likely pathogenic variant in the MYH9 gene(c.5521G>A,p.Glu1841Lys). Mutation in this gene in its autosomal dominant variant can cause macrothrombocytopenia and granulocyte inclusions with or without nephritis, sensorineural hearing loss, which were excluded in this patient.

Conclusion(s): we shouldn’t take all referred diagnosis of chronic ITP for granted.It is crucial to review all such patients ,especially those with findings not characteristic of the diagnosis of ITP.