Milky Blood in Baby: How Doctors Diagnosed a Rare Genetic Disorder in a Mumbai Infant
A routine blood test at a Mumbai hospital turned into a life-saving diagnosis after doctors noticed something they rarely see in medical practice—milky blood in a baby.
The unusual appearance of the infant’s blood led doctors to diagnose Familial Lipoprotein Lipase Deficiency (LPLD), an extremely rare inherited metabolic disorder that causes dangerously high levels of fat in the bloodstream. Prompt treatment helped save the two-and-a-half-month-old baby’s life.
The case, first reported by The Times of India, highlights the importance of early diagnosis and specialised care for babies with rare genetic disorders.
Why Did Doctors Find Milky Blood in the Baby?
The infant, the first child of a Bandra couple after four years of marriage, was admitted to Bai Jerbai Wadia Hospital for Children on May 29 after doctors found that she had an enlarged heart.
During routine blood tests, doctors noticed that the baby’s blood was not its normal deep red colour. Instead, it appeared thick, creamy and milky.
Further investigations revealed the reason behind the milky blood in the baby—her triglyceride level had reached an astonishing 42,000 mg/dL, nearly 300 times the normal level.
Excess triglycerides had accumulated in the bloodstream, giving the blood its unusual appearance and placing the infant at risk of severe complications, including pancreatitis, stroke and heart problems.
What Is Familial Lipoprotein Lipase Deficiency?
Familial Lipoprotein Lipase Deficiency (LPLD) is an exceptionally rare inherited metabolic disorder in which the body lacks enough lipoprotein lipase, an enzyme responsible for breaking down fats from food.
Without this enzyme, triglycerides build up rapidly in the blood, leading to dangerously high fat levels that can damage organs and trigger life-threatening complications.
Experts estimate that the condition affects only one in one million people worldwide.
How Doctors Treated the Mumbai Baby
According to The Times of India, doctors assembled a multidisciplinary team that included specialists in paediatric cardiology, endocrinology, genetics, nutrition, radiology and intensive care.
To reduce the dangerously high triglyceride levels, doctors temporarily stopped all oral feeding—including breast milk—for 16 days because breast milk naturally contains fat.
Instead, the baby received intravenous nutrition while her condition was closely monitored.
Once her triglyceride levels began to improve, doctors introduced a carefully planned feeding regimen using skimmed milk powder to provide nutrition while keeping fat intake to an absolute minimum.
By the nineteenth day of treatment, the baby’s triglyceride level had fallen dramatically to 242 mg/dL. Her blood gradually returned to its normal appearance, and her heart function also improved significantly.
Will the Baby Need Lifelong Treatment?
Although doctors successfully managed the immediate medical emergency, the child will require lifelong care.
She will need to follow a strict low-fat diet throughout her life to prevent triglyceride levels from rising again. As she grows older, doctors may also prescribe cholesterol-lowering medication, along with regular monitoring by metabolic specialists.
With proper dietary management and ongoing medical care, children with LPLD can lead healthy and active lives.
Symptoms of Familial Lipoprotein Lipase Deficiency
Because the disorder is so rare, diagnosis can be challenging. Parents should know that milky blood in a baby is not something that can be seen without laboratory testing.
Other symptoms may include:
- Extremely high triglyceride levels
- Recurrent abdominal pain
- Enlarged liver or spleen
- Pancreatitis
- Poor feeding or poor weight gain
- Fatigue or irritability
If doctors suspect an inherited metabolic disorder, genetic testing may be recommended to confirm the diagnosis.
