HH

 Case: 33 years old male with no past medical history is admitted to ICU with Diabetes Ketoacidosis (DKA). On examination, he is found to have skin hyperpigmentation and pedal edema. Labs were remarkable for severe transaminitis. Patient reports overuse of elements and vitamins. The presumptive diagnosis of  Hereditary Hemochromatosis (HH) is made on the basis of family history and further lab testing. Out of the following which diagnostic test should be ordered next? (select one)

A) Echocardiogram

B) Liver biopsy

Answer: A

Hereditary Hemochromatosis (HH) is the most common genetic disorder in the world. This is due to the mutations in the HH gene known as HFE. This leads to increased intestinal iron absorption and total-body iron overload. In recent years over ingestion of over-the-counter vitamins became a concern for more symptomatic presentations for these patients.

A liver biopsy is not required for the diagnosis of HH. Estimation by MRI for iron stores can be done in the majority of the patients. Echocardiography should be done as cardiac iron overload may lead to dilated cardiomyopathy, as evident in our patient with pedal edema.

DKA can be a presenting symptom due to pancreatic infiltration.

#endocrinology

#hepatology

#cardiology

#metabolism

References:

1. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 31-1994. A 25-year-old man with the recent onset of diabetes mellitus and congestive heart failure. N Engl J Med 1994; 331:460. 

2. Raju K, Venkataramappa SM. Primary Hemochromatosis Presenting as Type 2 Diabetes Mellitus: A Case Report with Review of Literature. Int J Appl Basic Med Res. 2018;8(1):57-60. doi:10.4103/ijabmr.IJABMR_402_16 

3. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-43. doi: 10.1002/hep.24330. PMID: 21452290; PMCID: PMC3149125.