SNP Shot: Genomic Insights

Farber lipogranulomatosis is a rare, inherited disorder that disrupts how the body processes and uses fats (lipids), a process called lipid metabolism. In those affected, lipids build up abnormally in cells and tissues throughout the body, especially around the joints. While previously classified into subtypes based on distinct characteristics, it's now understood that Farber lipogranulomatosis presents as a range of symptoms with considerable overlap.

The three hallmark signs of Farber lipogranulomatosis are a hoarse voice or weak cry, small fatty lumps (lipogranulomas) under the skin and in other tissues, and swollen, painful joints. These symptoms usually appear during infancy.

Beyond these classic signs, Farber lipogranulomatosis frequently affects multiple organ systems. Individuals may experience developmental delays, behavioral issues, or seizures. In severe cases, the condition can lead to a progressive deterioration of brain and spinal cord (central nervous system) function, fluid accumulation in the brain (hydrocephalus), brain tissue loss (atrophy), paralysis of all four limbs (quadriplegia), speech loss, or involuntary muscle spasms (myoclonus).

Individuals with Farber lipogranulomatosis commonly have enlarged livers, spleens, and immune system tissues due to extensive lipid accumulation. Lipid deposits can also occur in the eyes and lungs, potentially causing vision and breathing problems. Furthermore, affected individuals may develop bone thinning (osteoporosis), which worsens over time.

Due to the severity of the condition's symptoms, individuals with Farber lipogranulomatosis typically do not live beyond childhood.

Inheritance:

Farber lipogranulomatosis follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have variants for the condition to manifest. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but usually do not exhibit any signs or symptoms of the condition themselves.