Introduction

Farber lipogranulomatosis is ASAH1-related disorders that is inherited in an autosomal recessive manner meaning, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Siblings with the same two pathogenic variants would be expected to have the same (or very similar) phenotype. The disorders are ultra-rare and estimated to occur in fewer than one per million.^[1]

Keyword: Farber disease, genetics

1. Dyment, DA; Bennett, SAL; Medin, JA; Levade, T; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mirzaa, G; Amemiya, A (2018). "ASAH1-Related Disorders". Gene Reviews. PMID 29595935
2. Yu, FPS; Amintas, S; Levade, T; Medin, JA (20 July 2018). "Acid ceramidase deficiency: Farber disease and SMA-PME". Orphanet Journal of Rare Diseases. 13 (121): 20. doi:10.1186/s13023-018-0845-z. PMC 6053731. PMID 30029679.
3. Jump up to:a b c d e f g h Dyment, DA; Bennett, SAL; Medin, JA; Levade, T; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mirzaa, G; Amemiya, A (2018). "ASAH1-Related Disorders". Gene Reviews. PMID 29595935.
4. "Farber disease". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.
5. Elsea, SH; Solyom, A; Martin, K; Harmatz, P; Mitchell, J; Lampe, C; Grant, C; Selim, L; Mungan, NO; Guelbert, N; Magnusson, B; Sundberg, E; Puri, R; Kapoor, S; Arslan, N; DiRocco, M; Zaki, M; Ozen, S; Mahmoud, IG; Ehlert, K; Hahn, A; Gokcay, G; Torcoletti, M; Ferreira, CR (September 2020). "ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy". Human Mutation. 41 (9): 1469–1487. doi:10.1002/humu.24056. PMID 32449975. S2CID 218895424
6. Schuchman, Edward H.; Mitchell, John; Solyom, Alex (2 September 2017). "Morbidity and mortality associated with Farber disease and prospects for therapy". Expert Opinion on Orphan Drugs. 5 (9): 717–726. doi:10.1080/21678707.2017.1359086. S2CID 79980666.
7. Moghadam, SH; Tavasoli, AR; Modaresi, M; Ziaee, V (1 December 2019). "Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis". Journal of Musculoskeletal & Neuronal Interactions. 19 (4): 521–525. PMC 6944811. PMID 31789304
8. Mitchell, John; Solyom, Alexander; Makay, Balahan; Arslan, Nur; Batu, Ezgi Deniz; Ozen, Seza; Hügle, Boris; Schuchman, Edward; Magnusson, Bo (February 2016). "Farber disease: Implications of anti-inflammatory treatment". Molecular Genetics and Metabolism. 117 (2): S81–S82. doi:10.1016/j.ymgme.2015.12.364
9. Ehlert, K; Levade, T; Di Rocco, M; Lanino, E; Albert, MH; Führer, M; Jarisch, A; Güngör, T; Ayuk, F; Vormoor, J (March 2019). "Allogeneic hematopoietic cell transplantation in Farber disease". Journal of Inherited Metabolic Disease. 42 (2): 286–294. doi:10.1002/jimd.12043. PMID 30815900. S2CID 73478264
10. He, X; Dworski, S; Zhu, C; DeAngelis, V; Solyom, A; Medin, JA; Simonaro, CM; Schuchman, EH (June 2017). "Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice". BBA Clinical. 7: 85–96. doi:10.1016/j.bbacli.2017.02.001. PMC 5338723. PMID 28275553

Dr Budoor Kahtan Al Shammari

MBBCH/Pediatric Specialist,

Primary health care, Doha, Qatar