Difficulties in diagnostic search and differential diagnosis in a child with Hermansky – Pudlak syndrome type 3

Introduction. Type 3 Hermansky-Pudlak syndrome (GFS) is a rare autosomal recessive disease characterized mainly by oculocutaneous albinism and platelet quality defects, other clinical manifestations characteristic of other types of GFS (interstitial pulmonary fibrosis and granulomatous colitis in types 1, 2, 4 and immunodeficiency in types 2 and 10) are absent. Usually, hemorrhagic manifestations in type 3 GBS are limited to the skin-mucosal syndrome, whereas the development of severe gastrointestinal bleeding, according to the literature, is not typical and requires a more in-depth analysis.

Goal. To present a clinical case of a child with type 3 GST and recurrent GCC, demonstrate the difficulties of differential diagnosis, and justify the need for a multidisciplinary approach.

Materials and methods. A retrospective analysis of the medical documentation of an 8-year-old patient with genetically confirmed type 3 GST, including data from endoscopic, radiation, and hemostasis methods, was performed.

Results. A patient with a previously known platelet defect developed two episodes of severe GCC with a drop in hemoglobin to 77 g/L, requiring blood transfusions. The patient was comprehensively examined in the field of gastroenterology and hematology. Capsule endoscopy revealed angiodysplasia of the ileum, but it was impossible to determine them as unambiguous causes of bleeding at the time of examination. According to the results of the examination, no unambiguous cause of bleeding was identified, and therefore three hypotheses were formulated explaining the clinical course of the disease: 1- a combination of mutations in the HPS3 gene leads to a more severe course of hemorrhagic syndrome; 2- failure to follow doctors’ recommendations, eating disorders and regimen leads to a more severe course of hemorrhagic syndrome; 3- primary defects platelets worsen the course of intestinal structural defects.

Conclusion. Despite the mild hematological manifestations of SGP3 described in the literature, caution should be exercised regarding the possible more severe course of the disease, including bleeding from the gastrointestinal tract. It is necessary to actively search for and exclude structural vascular anomalies and inflammatory changes in the gastrointestinal tract, and differential diagnosis requires interdisciplinary interaction and a re-revision of instrumental data. A more active accumulation of data will help to compare the clinical course with different genetic variants and identify the variants associated with the most severe course of the disease.

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