Diagnosis of 'possible' mitochondrial disease: an existential crisis. Issue 3 (25th January 2019)

• Record Type: Journal Article
• Authors: Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt, Victoria; Schiff, Manuel; Steele, Hannah; Stockler, Silvia; Sue, Carolyn; Tarnopolsky, Mark; Thorburn, David R; Vockley, Jerry; Rahman, Shamima
• Is Part Of: Journal of medical genetics. Volume 56:Issue 3(2019)
• Page Start: 123
• Page End: 130
• Publication Date: 2019-01-25
• Subjects: diagnosis -- metabolic disorders -- clinical genetics -- evidence based practice; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2018-105800
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.