A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis

Toret E., Demir-Kolsuz O., Ozdemir Z. C., Bor Ö.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.44, sa.1, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1097/mph.0000000000002032
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: ADAMTS13, congenital TTP, microangiopathic hemolysis, schistocyte, FACTOR CLEAVING PROTEASE, UPSHAW-SCHULMAN SYNDROME, ADAMTS13 DEFICIENCY
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

We report on a 12-year-old boy with congenital thrombotic thrombocytopenic purpura, on who had an erroneous diagnosis as chronic immune thrombocytopenia. The patient presented with complaints of jaundice and skin rash. Laboratory analysis showed nonimmune hemolytic anemia and severe thrombocytopenia. Peripheral blood smear showed 8% schistocytes, polychromasia, and anisocytosis. The ADAMTS13 antigen and activity were suspected to be lower than 5% with any antibodies against the enzyme. The DNA sequence analyses resulted in compound heterozygosity consisting of c.291_391del in exon 3 and c.4143dupA in exon 29. Schistocyte (fragmented erythrocytes) on the peripheral blood smear is a light that illuminates the diagnosis. Early recognition of the disease can prevent inappropriate treatments and morbidities due to organ damage.