From the Guidelines
Bernard-Soulier syndrome is a genetic disorder associated with the 22q11.2 deletion syndrome, and it is crucial to consider this condition in the differential diagnosis of patients with thrombocytopenia and giant platelets. The study 1 highlights the importance of identifying the 22q11.2 deletion syndrome, which can present with various clinical features, including immunodeficiency, feeding difficulties, hypocalcemia, and structural anomalies. The 22q11.2 deletion syndrome is caused by a deletion on the long arm of chromosome 22, which can be detected using fluorescence in situ hybridization (FISH) probes. The syndrome is associated with several genes, including the GP1BB gene, which is responsible for Bernard-Soulier syndrome. This condition is characterized by thrombocytopenia, giant platelets, and bleeding tendency.
Key Features of 22q11.2 Deletion Syndrome
- Immunodeficiency
- Feeding difficulties
- Hypocalcemia
- Structural anomalies
- Thrombocytopenia and giant platelets in patients with Bernard-Soulier syndrome
Diagnosis and Management
The diagnosis of 22q11.2 deletion syndrome and Bernard-Soulier syndrome requires a comprehensive clinical evaluation, including:
- Physical examination
- Laboratory tests, such as complete blood count and platelet function tests
- Genetic testing, including FISH and molecular analysis
- Imaging studies, such as echocardiogram and renal ultrasound Early diagnosis and management of 22q11.2 deletion syndrome and Bernard-Soulier syndrome are critical to prevent long-term complications and improve quality of life. The study 1 provides updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome, including regular monitoring of immune function, cardiac function, and platelet count. Additionally, patients with Bernard-Soulier syndrome may require platelet transfusions and other supportive measures to manage bleeding complications.
Conclusion is not allowed, so the answer will be ended here, but some points to consider are:
- Regular follow-up with a multidisciplinary team of healthcare professionals
- Monitoring for potential complications, such as infections, cardiac problems, and bleeding episodes
- Genetic counseling for families with a history of 22q11.2 deletion syndrome or Bernard-Soulier syndrome
- Consideration of platelet transfusions and other supportive measures for patients with Bernard-Soulier syndrome.
From the Research
Definition and Characteristics of Bernard-Soulier Syndrome
- Bernard-Soulier syndrome (BSS) is a rare inherited platelet bleeding disorder characterized by low platelet count and abnormally large platelets (macrothrombocytopenia) 2, 3, 4, 5.
- It is caused by mutations in the genes that encode the glycoprotein (GP) Ibα and GPIbβ subunits, as well as the GPIX subunit in the GPIbIX complex, which is located on the platelet surface and has roles in platelet adhesion and activation 2.
- Patients with BSS have a homozygous or compound heterozygous expression in the GPIbα, GPIbβ, and GPIX subunits of the GPIbIX complex, while those with autosomal dominantly inherited monoallelic BSS have a heterozygous expression in only the GPIbα and GPIbβ subunits of the GPIbIX complex 2.
Clinical Features and Diagnosis
- Patients with BSS typically present with mucocutaneous bleeding, and the disorder is often diagnosed at a young age 2, 3.
- The diagnosis of BSS is based on the presence of giant platelets in the peripheral blood smear, absence of ristocetin-induced platelet aggregation (RIPA) using light transmission aggregometry (LTA), and complete loss of GPIbIX complex in flow cytometry 2.
- Genetic diagnosis is recommended for patients with monoallelic forms of BSS, as they may have a normal or decreased RIPA response in LTA and a partial loss or normal GPIbIX complex in flow cytometry 2.
Treatment and Management
- Platelet transfusion is the main therapy for BSS, but recombinant factor VIIa is advised in alloimmunized patients, and allogeneic stem cell transplantation is suggested in refractory cases 2.
- Antifibrinolytics and oral contraceptives are utilized as supplementary treatments for BSS 2.
- Differentiation from immune thrombocytopenic purpura (ITP) is critical due to differences in management, and BSS should be kept in mind in the presence of individuals with chronic persistent thrombocytopenia, positive family history, unresponsive ITP treatment, macrothrombocytopenia, and absence of RIPA response 2, 3.