Farber ’s lipogranulomatosis is also have it off as ceramidase deficiency , Farber disease and acid ceramidase deficiency .
Farber ’s lipogranulomatosis is a rarified familial disease , which involves breaking down and utilization of fats present in the body . In Farber ’s lipogranulomatosis harmful amounts of lipids make up in the tissue and mobile phone all over the body , specifically around the junction of the affected role .
Farber ’s lipogranulomatosis typically involve sign like a weak battle cry and a hoarse voice , small-scale lumps of fat below the skin and in other tissues i.e. lipogranulomas , and sore and swollen joints . asunder from this , the patient may also suffer with trouble like intellectual disability , anenlarged spleenandliveri.e . hepatosplenomegaly , and difficulty while respiration .
Farber ’s lipogranulomatosis is an genetic disease , which put across on to the child if both the parents are carrier of the gene . This radiation diagram of inheritance is known as autosomal recessive allele . However , the parents who are carriers of the Farber ’s lipogranulomatosis gene do not themselves show any signs or symptom of Farber ’s lipogranulomatosis .
Types of Farber’s Lipogranulomatosis or Ceramidase Deficiency
Farber’s Lipogranulomatosis Is Broadly Classified Into Seven Types:
Epidemiology of Farber’s Lipogranulomatosis or Ceramidase Deficiency
Farber ’s lipogranulomatosis is a rare disease .
Causes and Risk Factors of Farber’s Lipogranulomatosis or Ceramidase Deficiency
Farber ’s lipogranulomatosis is caused due to mutations in the ASAH1 gene . The ASAH1 gene is a gene that gives instructions for output of an enzyme known as acid ceramidase . Acid ceramidase is present in the compartment , which compilation and recycle materials in the cell by break down the fats know as ceramides for the determination of getting them used by the physical structure .
The building up of the ceramide in Farber ’s lipogranulomatosis is cause due to bankruptcy of breaking down of ceramides in lysosomes . ASAH1 gene variation ensue in store the functional pane ceramidase that end the lysosome from appropriate break down of ceramides . deficiency of action of dot ceramidase can develop ceramides in the lysosome of tissues and cells in the El Salvadoran colon , muscles used for movement , bone , cartilage , lung and liver . The hardship of the disease varies from meek to severe look upon the amount of ceramide that has accumulated in the body .
Signs and Symptoms of Farber’s Lipogranulomatosis or Ceramidase Deficiency
Treatment for Farber’s Lipogranulomatosis or Ceramidase Deficiency
There is no proper cure usable for treating Farber ’s lipogranulomatosis . However , corticosteroids may help in relieving the bother . Bone pith transplants help oneself in improving the small mass of inflamed tissue paper in patient with less or no nervous system or lung problems . operative remotion or reduction of granulomas is often done in case of elderly patients .
Investigations for Farber’s Lipogranulomatosis or Ceramidase Deficiency
Clinical trial of painful joint disfigurement , subcutaneous nodules especially near the joints and on press pointedness , and hoarseness is the typical presentation of Farber ’s lipogranulomatosis . diagnosing of the disease is confirmed by determination of acid ceramidase activity .
Diagnostic tests include :
