Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report

Area of Science:

• Hematology
• Genetics
• Biochemistry

Background:

• Red cell pyruvate kinase (PK) deficiency is a genetic disorder leading to hemolytic anemia.
• Hypertriglyceridemia, elevated blood triglycerides, can be primary or secondary to other conditions.
• Hypertriglyceridemia-thalassemia syndrome is a known association between hypertriglyceridemia and beta-thalassemia major.

Observation:

• A four-month-old infant presented with milky serum, severe anemia, extremely high triglycerides (1197 mg/dL), and elevated lactate dehydrogenase (LDH).
• Clinical signs included pallor, mild icterus, dysmorphic facial features, and splenohepatomegaly.
• Ophthalmic examination revealed lipemia retinitis, a sign of high blood lipid levels.

Findings:

• The infant's condition was diagnosed as severe anemia secondary to red cell pyruvate kinase deficiency, complicated by severe hypertriglyceridemia.
• Lipemia retinitis was a key ophthalmic finding indicative of the severe hypertriglyceridemia.

Implications:

• This case highlights the importance of early diagnosis and prompt management of red cell PK deficiency and associated hypertriglyceridemia in infants.
• Appropriate treatment, including specialized feeding, blood transfusions, and folic acid, led to significant clinical improvement.
• Timely intervention can alter the disease course, enabling affected infants to achieve a near-normal quality of life.