Questions on Hemochromatosis & Sleep Apnea

Dear Dr. Spence,
My uncle has been diagnosed with hemochromatosis and says I may have it as well. What can you tell me about the disease?
Signed,
Aches and Pains

Dear Aches,
Hemochromatosis is the most common genetic disorder in the United States affecting one in 250-300 whites in the population. It is grossly under diagnosed and under recognized as many patients never present with any substantial symptoms. It is estimated that every physician encounters a patient with hemochromatosis every two weeks whether they are aware of it or not. Hemochromatosis is a disorder of iron metabolism and is associated with an increased intestinal absorption of iron and deposition of excess iron in the liver, pancreas and other organs. Most patients are diagnosed after the age of 40 and most are symptom free. Common manifestations of the disease are fatigue, impotence and joint pain, with possible progression to overt diabetes mellitus and liver cirrhosis. There may be a darkening of the skin; "bronze diabetes" has been used as a descriptor. Diagnosis requires evaluation of iron status through simple bloodwork and genetic testing is available as well. Phlebotomy is the preferred treatment and entails removing approximately 500 ml of blood each week until the hemoglobin (red blood cell level) is lower than normal. Most individuals require 4-8 phlebotomies per year in order to maintain their levels.

Dear Dr. Spence,
Why is sleep apnea such a big deal?
Signed,
Masked and unhappy

Dear Masked,
OSA (or obstructive sleep apnea) should be suspected in anyone who is overweight, snores loudly or has chronic daytime somnolence and fatigue. I probably miss the diagnosis regularly since 99.9% of patients I end up sending for sleep studies actually have it. Perhaps I wait too long or perhaps it is not something we think enough about as a cause of patients symptoms. Either way, there is no doubt that sleep apnea contributes to long-term mortality. For starters, most patients feel miserable and often have suffered for years with chronic fatigue. Less obvious are those health problems that are directly attributable to sleep apnea such as uncontrolled hypertension and heart failure. CPAP (continuous positive airway pressure) is the most effective treatment for clinically significant OSA and consists of using a breathing apparatus at night that provides pressure to airways to keep them open. Unfortunately, tolerability remains a barrier to compliance. Complications include general discomfort, claustrophobia, nasal and eye irritation, nasal dryness and congestion. Strategies to improve adherence are critical and include adding humidification, treating nasal disease, allowing patients greater options with regards to masks and mask comfort, and providing regular follow-up.

Do you have any medical questions or concerns that you would like addressed? You can contact Dr. Spence by email at panhandledailydose@hotmail.com or by mailing your question to Daily Dose, P.O. Box 6107, Marianna, FL 32446.