Milky-White Blood in Infant Reveals Ultra-Rare Familial Lipoprotein Lipase Deficiency
核心洞察
A two-and-a-half-month-old infant referred for suspected hypertrophic cardiomyopathy was found to have serum triglycerides exceeding 42,000 mg/dL, over 400 times the normal level.
A multidisciplinary team at Bai Jerbai Wadia Hospital for Children withheld oral feeds for 16 days with fat-free intravenous nutrition, bringing triglycerides down to 242 mg/dL by day 19.
Genetic testing confirmed Familial Lipoprotein Lipase Deficiency (搜索) (LPLD), a disorder affecting approximately 1 in 1 million individuals, with both parents showing mildly elevated triglycerides.
A routine cardiac evaluation at Bai Jerbai Wadia Hospital for Children in Mumbai took an extraordinary turn when clinicians discovered that a two-and-a-half-month-old baby girl's blood appeared milky white rather than red. The infant, Rida Shaikh, had been referred on May 29 for evaluation of hypertrophic cardiomyopathy (HCM), but laboratory findings soon revealed one of the rarest inherited metabolic disorders known to medicine: Familial Lipoprotein Lipase Deficiency (搜索) (LPLD).
Dr. Sumitra Venkatesh, Paediatric Cardiologist at the hospital, confirmed that the infant's serum triglyceride (搜索) level exceeded 42,000 mg/dL — more than 400 times the normal threshold of below 100 mg/dL. "Such high levels are not seen and are life-threatening," Dr. Venkatesh said, noting that excessive fat had accumulated in several vital organs, including the heart, blood vessels, eyes, and liver, severely compromising the baby's overall health.
A Coordinated Multidisciplinary Response
Upon recognizing the severity of the case, the hospital immediately assembled a multidisciplinary team spanning paediatric cardiology, endocrinology, lipidology, critical care, hepatology, genetics, nutrition, and radiology. The team implemented a carefully structured protocol aimed at rapidly reducing the extreme lipid burden.
The cornerstone of acute management involved withholding all oral feeds for 16 days while providing fat-free intravenous nutrition under close monitoring. "Managing the nutritional needs of such a young infant during prolonged fasting posed a big challenge for both the treating team and her parents," Dr. Venkatesh explained.
Serial monitoring of triglyceride (搜索) levels guided ongoing management. Once levels began declining, carefully formulated ultra-low-fat feeds were introduced under strict supervision. By the nineteenth day of hospitalization, the baby's triglyceride level had dramatically fallen to 242 mg/dL. Her blood gradually regained its normal red colour, fat deposits in affected organs began disappearing, and cardiac function showed remarkable improvement.
Genetic Confirmation and Familial Pattern
Genetic testing subsequently confirmed the diagnosis of Familial Lipoprotein Lipase Deficiency (搜索), a condition caused by deficiency of an enzyme essential for breaking down fats. Evaluation of both parents — Mohammad Shaikh and Saniya Shaikh, for whom Rida is their first child after four years of marriage — revealed mildly elevated triglyceride (搜索) levels, supporting the inherited nature of the disorder.
Professor Dr. Sudha Rao, Medical Director and Chief of Paediatric Endocrinology, placed the rarity of the condition in perspective. "Familial lipoprotein lipase deficiency (搜索) is a very rare genetic disorder affecting 1 in 1,000,000 individuals in the general population," she said. "I have encountered such cases previously, but not with such life-threatening, severely high levels of serum triglyceride (搜索)."
Lifelong Management and Prognosis
The infant was discharged on June 29, 2026, on full oral low-fat feeds and is reported to be doing well. However, the diagnosis carries lifelong implications. Dr. Rao emphasized that the child will require dietary fat restriction limited to less than 10–15% of total caloric intake, along with regular monitoring of blood triglycerides and other lipid levels.
"The long-term outcome is good in terms of growth and development, and we need to be watchful of complications like pancreatitis," Dr. Rao added.
A Model for Rare Disease Management
Dr. Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital for Children, framed the case as a testament to institutional capability in managing complex rare diseases. "This case stands as a powerful example of how early recognition, precise diagnostics, and seamless multidisciplinary collaboration can transform the outcome of an otherwise devastating rare disease," she said. "At Bai Jerbai Wadia Hospital for Children, we get many intriguing rare diseases and can provide them with treatment and comprehensive care all under one roof."
The baby's parents expressed deep gratitude to the medical team. "Our daughter is our first child, and watching her battle such a rare condition was the most difficult phase of our lives," they said. "Seeing her smile again is the greatest blessing for our family."