Immune Thrombocytopenia causing Abnormal Uterine Bleeding in an Adolescent Girl having Co-Existent Type-1 Neurofibromatosis- Is it an Association or Coincidence?

• Main Authors: Charu Sharma, Shavina Bansal, Shashank Shekhar, Manisha Jhirwal, Payal Patwa
• Format: Article
• Language: English
• Published: JCDR Research and Publications Private Limited 2020-11-01
• Series: Journal of Clinical and Diagnostic Research
• Subjects: café-au-lait spots; heavy menstrual bleeding; lisch nodules; platelet count; steroids
• Online Access: https://jcdr.net/articles/PDF/14180/45876_CE[Ra1]_F(KM)_PF1(AKA_SL)_PFA(AKA_SL)_PN(SL).pdf

Immune Thrombocytopenia (ITP) is an autoimmune disorder characterised by a low circulating platelet count. ITP is caused by destruction of antibody-sensitised platelets in the reticuloendothelial system. Majority of the patients with ITP remain asymptomatic or develop only purpura, petechiae or epistaxis (83%) but few, very rarely, may present with abnormal uterine bleeding. On the other hand, Neurofibromatosis is an autosomal dominant disorder which can present with either precocious puberty or delayed puberty. This case report highlights a case of a 14-year-old female who presented with heavy menstrual bleeding as a presenting symptom of ITP and was co-incidentally also diagnosed as Neurofibromatosis type 1 (NF-1) during work-up of ITP for multiple hyperpigmented macules (Café-au-lait spots) noticed on her neck, forearm and back and the presence of Lisch nodules in iris. She was managed with steroids, oral contraceptive pills, iron and multivitamin tablets.