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Case Reports
. 2024 Jul 31;16(7):e65839.
doi: 10.7759/cureus.65839. eCollection 2024 Jul.

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report

Dinesh V Hinge  1 , Mamta Muranjan  2 , Amar Taksande  1 , Priyanka Hampe  1
Affiliations
Case Reports

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report

Dinesh V Hinge et al. Cureus. .

Abstract

Red cell pyruvate kinase (PK) deficiency is a genetic disorder affecting the enzyme PK in red blood cells. A deficiency in PK leads to hemolytic anemia. Hypertriglyceridemia means elevated levels of triglycerides in the blood. The hypertriglyceridemia disorder can be primary or secondary to an underlying disease. Hypertriglyceridemia with β-thalassemia major is a known association and is called hypertriglyceridemia-thalassemia syndrome. A four-month-old male child was found to have milky serum. On investigation, there was severe anemia, with triglycerides at 1197 mg/dL and high lactate dehydrogenase (LDH). The child had severe pallor, mild icterus, a dysmorphic face, and splenohepatomegaly. Ophthalmic examination showed lipemia retinitis. The child was treated with medium-chain fatty acid formula feed. Regular blood transfusions, folic acid supplements, and avoidance of salicylate group drugs were advised. The child improved and is doing well. Thus, early diagnosis and treatment can change the prognosis and help maintain a near-normal life for affected infants.

Keywords: hemolytic anemia; hypertriglyceridemia; milky blood sample; pyruvate kinase deficiency; regular blood transfusion.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Dysmorphic face and frontal bossing
Figure 2
Figure 2. Enlarged spleen and liver size (splenohepatomegaly)
Figure 3
Figure 3. Milky blood sample
See this image and copyright information in PMC

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