Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder.
SIGNS AND SYMPTOMS
The symptoms of Farber disease develop over time. The onset of symptoms and how quickly they progress vary from person to person.
The most common symptoms include:
- Bumps under the skin located at pressure points and joints, also called subcutaneous nodules, lipogranulomas, or granulomas
- Swollen, painful joints with progressive limitation of range of motion resulting in contracture
- Hoarse voice/cry
- Other symptoms observed in some individuals with Farber disease include:
- Respiratory disease, e.g. lung infections, labored breathing, respiratory distress
- Central nervous system disease, e.g. developmental delay, muscle weakness, seizures
- Systemic inflammation
- Failure to thrive
- Bone disease, e.g. erosion of bone near joints, osteoporosis, peripheral osteolysis
- Enlarged liver (hepatomegaly)
- Eye disease, e.g. cherry-red spot, corneal opacities.
Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When is concerned there are many effective medicines available in Homoeopathy, but the selection depends upon the individuality of the patient, considering mental and physical symptoms
Few homoeopathic medicine can be thought of in the management of Farber disease are:
Causticum, ruta, actacea soicata, lithium carb., rhododendron etc.