Two years ago, a 14-year-old patient was diagnosed by pediatric endocrinologists at Almazov Centre with a rare disease – congenital familial partial lipodystrophy type 4 (heterozygous mutation c.1210-1G>C in the PLIN1 gene).
A typical manifestation of the disease is the appearance of the lower limbs of a patient who has never exercised, with very distinct muscle contours due to the absence of a fat layer.
The estimated prevalence of this disease about 1 per 1 million people and it is characterized by a partial absence of the subcutaneous fat layer in the lower body (abdomen, lower limbs), giving patients the clinical phenotype of «athlete's foot», although they have never exercised. The main manifestations of the disease are lipoatrophic diabetes, severe insulin resistance, marked hypertriglyceridemia and dyslipidemia, leading to early vascular damage and significantly reduced life expectancy. The patient's grandmother died of a myocardial infarction at the age of less than 40. Once the correct diagnosis was made in time, the doctors at Almazov Centre initiated the necessary paperwork to obtain the drug metreleptin through the Circle of Goodness Foundation. Having received the drug, pediatric endocrinologists at the Almazov Centre University Clinic initiated targeted treatment for the first time in Russia.
“The administration of recombinant leptin can significantly reduce metabolic disorders and thus increase life expectancy and quality. Already 10 days after the start of therapy, the patient's triglyceride level decreased by two times,” says Dr. Irina Nikitina, Head of Research Laboratory of Pediatric Endocrinology at the Endocrinology Institute of Almazov Centre.