Importance of Medical Genetics

Excellent Grand Rounds today by Dr. Hanna Faghfoury titled “Why should Internal Medicine care about Medical Genetics?” According to Dr. Faghfoury, the importance of Medical Genetics lies in the fact that even rare diagnosis will at times appear and accurate diagnosis can lead to appropriate treatment, monitoring of other associated organ systems, and screening of family members. Three cases, each presenting with neurological findings, led to discussions on Classical Homocysteinuria, Fabry’s Disease, and Ehler-Danlos Type IV.

Dr. Faghfoury emphasized that we should not forget that common is common (i.e. don’t miss horses for the zebras), but we should keep genetic diseases in our differential. Important hints that we may be dealing with genetic disorders includes:

1. working diagnosis does not explain clinical picture: e.g. there is atypical features, young age, refractory to treatment, recurrent presentation, unexplained multi-systemic issues
2. dysmorphism or developmental delay in patient
3. suspicious family history: can ask about development delay, consanguinity, ethnicity, childhood/ early adulthood hospitalization/ surgery/ death

For an interesting example of Fabry’s disease, please see:  

Kopp JB, Schiffmann R. Images in clinical medicine: Fabry’s disease [Internet]. New England Journal of Medicine 2003 Jan;349(21):e20.Available from: http://www.ncbi.nlm.nih.gov/pubmed/14627801

-Jenny