Diagnosis of hypobetalipoproteinemia in an 8-year-old child? [Diagnóstico hipobetalipoproteinemia numa criança de 8 anos?]
De La Rosa C.R.
De Diego I.O.
Familial hypobetalipoproteinemia is a dominant autosomal inherited disorder that affects lipoproteins containing Apo B. It is an essential protein for the transport of chylomicrons in the intestine and it is involved in the synthesis and transport of VLDL in the liver. This concentration is used along with other lipid tests to establish a patient's individual risk of developing cardiovascular disease. This is the case of an 8 year-old male patient who presented at the University Hospital Virgen Macarena in Seville with symptoms of abdominal pain, loose stools and diarrhea, overweight and broken nails. The patient was referred to the laboratory for examination with suspected hypobetalipoproteinemia. He was requested a complete blood count, blood smear, coagulation, biochemistry and vascular risk study. Biochemical data discarded celiac disease (IgA 174 mg/dL [100-400 mg/dL] y antitransglutaminase antibody 5 U/mL [<20]). Determinations were RCV's profile: Total cholesterol 83 mg/dL (<200 mg/dL), c-HDL 48 mg/dL (>45 mg/dL), c-LDL 32 mg/dL (<160 mg/dL), non-HDL cholesterol 35 mg/dL, c-VLDL 3 mg/dL (<40 mg/dL), triglycerides 28 mg/dL, Apo-A1 112 mg/dL (119-240 mg/dL), Apo B-100 25 mg/dL (40-125 mg/dL), us-PCR 1,47 mg/dL (<3 mg/dL), Lp (a) 2 mg/dL (<30 mg/dL), Homocysteine 5,8 μmol/L (<15 μmol/L), Vitamin A 42 μg/dL (50-200 μg/dL), Vitamine E 1051 μg/dL (50-180 μg/dL) and 25-(OH) D 48,9 ng/mL (30-54 ng/mL) in normal ranges. HLA-27 Negative. After biochemical findings of low concentrations of lipoproteins with Apo B100, the patient was requested a saliva test for genetic study conducting Lipochip® for mutations of Apo B and PCSK9. It can be concluded that the patient had a decreased concentration of lipoproteins containing Apo-B and triglycerides. The symptoms of abdominal pain and tarry stools supported the clinical diagnosis. The lack of vitamin deficiency, mental retardation, acanthocytosis and other associated sintomatology, made it possible to consider it an heterozygous inheritance. which could not be genetically described with the tools available since Lipochip® does not detect in this patient positivity for a mutation to the amino acid change in the gene and exon 26 of Apo, Apo 26, PCSK9-7, PCSK9- 4, PCSK9-10.
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