2025 – PAGE 290 – HEMATOLOGY & ONCOLOGY

(DOUBLE TAKE) SHWACHMAN-DIAMOND SYNDROME

SHWACHMAN-DIAMOND SYNDROME is a rare, autosomal recessive (AR) disorder associated with bone marrow failure (pancytopenia/neutropenia), pancreatic insufficiency, bone/skeletal abnormalities, and possible neutrophil defects (migration and chemotaxis). Recurrent bacterial infections are common, including recurrent pneumonias, skin infections, otitis media, and sinusitis. Patients may also have aphthous stomatitis.

• PEARL: Due to some overlapping symptoms with Cystic Fibrosis (CF), such as pancreatic insufficiency, you may have to choose between this disorder and CF. Remember, this one has cell line issues, and the electrolytes and lungs are NORMAL.
• MNEMONIC: Imagine a DIAMOND in a SHWACH WATCH being used to make a CREASE in a black PAN with a white handle made of HOLLOW BONE.”
  • KEY: PAN/HOLLOW = PANCYTOPENIA/NEUTROPENIA!!! CREASE = panCREASE, PAN = PANcytopenia, HOLLOW BONE = Aplasia resulting in PANcytopenia and neutropenia.
• NAME ALERT: The name alert is for DIAMOND-BLACKFAN ANEMIA.

APLASTIC ANEMIA PEARLS

PEARLS: Aplastic anemias have a pancytopenia due to overall bone marrow suppression or failure. Look for neutropenia, thrombocytopenia, reticulocytopenia, and anemia. Since there is a lack of production (NOT the destruction) of RBCs, you should not see jaundice. The condition could be genetic and associated with a family history, or it can be acquired. Aplastic anemias can be MACROcytic (e.g., Fanconi Anemia) or normocytic (e.g., a patient with sickle cell anemia or hereditary spherocytosis gets parvovirus B19). Aplastic anemias can look like leukemia, but there shouldn’t be any lymphadenopathy, hepatomegaly, elevated LDH, or elevated uric acid levels. Aplastic crisis is usually due to Parvovirus B19, but it can also be caused by CHLORAMPHENICOL.