ESPE2023 Poster Category 1 Fat, Metabolism and Obesity (97 abstracts)
An interesting case of combined familial hyperlipidaemia and high lipoprotein (a) in a 20-month-old girl
Zacharoula Karabouta 1 , Elpida Simeoforidou 2 , Konstandina Georgoulia 3 , Eleni Koniari 3 , Alexia Bisbinas 4 & George Chrousos 3
12nd Paediatric Department, Aristotle University, AHEPA University General Hospital, Thessaloniki, Greece. 2Paediatric Private Practice, Drama, Greece. 3University Research Institute for the Study and Treatment of Genetic and Malignant Diseases of Childhood, Athens, Greece. 4Medical School, University of Pavia, Pavia, Italy
Introduction: Familial hypercholesterolaemia(FH) is a genetic disorder affecting approximately 1 in 250 people, resulting in high levels of low-density lipoprotein Cholesterol(LDL-C), increasing the likelihood of developing cardiovascular disease(CVD) at a younger age. Lipoprotein (a)(Lp(a)) is another risk factor for atherosclerosis, elevated in 20-25% of people and 90% genetically determined, only slightly reduced by diet, exercise and medication.
Aim: We describe a 20-month-old girl with a positive family history and a particularly abnormal lipid profile.
Subjects and Methods: Fasting lipids profiles were obtained from the whole family. Clinical diagnosis was made according to the Dutch Lipid Clinic Network criteria. Isolation of genetic material(Macherey Nagel) from whole blood, amplification(PCR-Qiagen) and sequencing(Sanger) of the LDL-r gene were performed.
Results: The family’s lipid profiles are shown in table 1. Sudden deaths at <50 years of age due to CVD were reported in the paternal and maternal relatives of the patient at a depth of four generations. Genetic analysis showed that the mother carries the mutation c.902A>G(p.Asp301Gly) in the LDLR gene(NM_000527.5) in heterozygosity belonging to the LDL-receptor class A7 and results in reduced binding of LDL particles by the receptor. The mutation was confirmed in the patient. Analysis continues on the Lp(a) gene.
| Patient | Mother | Father | Brother | |
| TChol <170mg/dl (4.4mmol/L) | 392 (10.14) | 281 (7.27) | 232 (6) | 92 (2.38) |
| HDL-C ≥60mg/dl (≥1.55mmol/L) | 47 (1.22) | 54 (1.4) | 72 (1.86) | 41 (1.06) |
| LDL-C <130mg/dl (<3.36 mmol/L) | 326 (8.43) | 160 (4.14) | 142 (3.67) | 44 (1.14) |
| Tg <150mg/dl(<1.69mmol/L) | 66 (0.75) | 63 (0.71) | 88 (0.99) | 35 (0.4) |
| Lp(a) <64 nmol/L | 90.25 | 85.8 | 108.8 | 13.4 |
| Apolipoprotein A 101-223mg/dl(1.01-2.23g/L) | 126 (1.26) | 119 (1.19) | 180 (1.8) | 94 (0.94) |
| Apolipoprotein B 53-182mg/dl (0.53-1.82g/L) | 193 (1.93) | 86 (0.86) | 93 (0.93) | 39 (0.39) |
Conclusions: Elevated Lp(a) is a genetic risk factor for CVD, independent of conventional risk factors such as elevated LDL-C. Although no pharmacologic treatment is available to lower Lp(a) levels in children, measurement of Lp(a) levels is important to further optimize other CVD risk factors, including more aggressive LDL-C reduction and lifelong adoption of balanced lifestyle habits. First-degree relatives of a patient with FH should be screened so that other gene carriers can be identified and treated. All patients with FH and their families should receive education about lifestyle management, including healthy eating, smoking cessation and physical activity.
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