Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.

BACKGROUND: Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases must be differentiated to prevent unnecessary parathyroidectomy. Here, we present a case that was not entirely matched with any of the known differential diagnoses of hypercalcemia. CASE PRESENTATION: A 19-year-old girl with no history of any disease presented with persistent hypercalcemia without any specific musculoskeletal complaint. We found persistent hypercalcemia in her routine laboratory data from 3 years ago; while no data was available during the childhood period. Her dietary calcium intake was normal. She did not mention any history of renal stone, bone fracture as well as family history of hypercalcemia. Biochemical features showed normal values of serum creatinine, high normal serum calcium (range, 10.3-11.3 mg/dL; (normal range: 8.8-10.4)), and non-suppressed PTH levels (range, 37.2-58.1 pg/mL; (normal range: 10-65)). Serum 25 OH vitamin D level at the first visit was 16.1 ng/mL that treated by vitamin D supplementation. Since then, all 25 OH vitamin D levels were in the acceptable range. After correction of vitamin D deficiency during the follow-up period the calcium creatinine clearance ratio(s) (CCCR) were calculated in the range of 0.009 to 0.014 (means below 1%). The clinical and laboratory data indicate more FHH rather than PHPT. Genetic studies were negative for the common genes associated with FHH (CASR, GNA11, and AP2S1 genes) and multiple endocrine neoplasia type1 (MEN1). On the other hand, no evidence of autoimmunity was found in her to support an autoimmune FHH-like syndrome. Hence, the case did not match completely to any diagnosis of FHH and PHPT, so we decided to follow her. CONCLUSION: We presented a patient with FHH phenotype whose common genetic tests were negative. Further research is needed to ascertain other causes leading to similar manifestations.

Case Report: Management of a Patient With Chylomicronemia Syndrome During Pregnancy With Medical Nutrition Therapy.

Background: Hypertriglyceridemia (HTG) during pregnancy may be accompanied by acute pancreatitis, hyperviscosity syndrome, and preeclampsia. HTG during pregnancy should be managed by a multidisciplinary team; however, no clinical guidelines exist for severe gestational HTG. Case Presentation: We herein present a case of a 36-year-old in the first pregnancy (G1P0Ab0), with a history of severe HTG-induced necrotizing pancreatitis 9 years earlier. There was no family history of HTG. During these years, she did not follow any appropriate diet or medical therapy for HTG. She became pregnant in May 2019, without preconception counseling. Eruptive and tuberoeruptive xanthomas appeared in the 27th week of pregnancy. Serum triglycerides (TGs) and fasting blood sugar (FBS) were 6,620 and 124 mg/dL, respectively, indicating HTG and gestational diabetes (GDM). After admission for the management of severe HTG, she was put on parenteral nutrition with dextrose water 5% and infusion insulin therapy without receiving any enteral carbohydrate for 2 days. Following that, a very low-fat diet and omega-3 fatty acids (1,200 mg/day) were started. After 4 weeks, TG levels reached 1,000 mg/dL, and her self-monitoring blood glucose levels showed appropriate blood glucose for pregnancy. She underwent a successful elective cesarean section in the 39th of pregnancy. Conclusion: This case report demonstrates that HTG during pregnancy could be managed by medical nutrition therapy (MNT).