Condition Info - BotMed Application

ConditionName

Hemochromatosis

ConditionDescription

Symptoms

Feeling very tired all the time (fatigue);
Weight loss;
Weakness;
Joint pain;
Erectile dysfunction;
Irregular periods or absent periods;
Tanning skin (jaundice); 
Abdominal pain;

PhysicalFindings

ClinicalTests

Best initial: ↑serum iron, ↓Iron binding capacity;
↑Ferritin - > 600;
↑ Iron;
↑transferrin saturation; if it normal think about liver disease
Mild ↑AST and ALT;

Best screening: transferrin saturation (serum iron/TIBC) >45%;
Most accurate: LV biopsy;

EKG: conduction defects;
ECOcard: dilated or restrictive cardiomyopathy;

RiskFactors

>50 y/o;
HFE gene mutation;

IsRedFlag

IsNPLEX

Consequence

Liver cirrhosis;
DM type 1;
Cardiomyopathy;
Arthritis;
Hepatomegaly;
Testicular atrophy, impotence;
Amenorrhea;
Dilated/restricted cardiomyopathy;
Cirrhosis;
Hepatocellular carcinoma;
CHF;
Hypopituitarism ;
Infertility;
Erectile dysfunction (deposition in anterior pituitary);

ProgressionFromCondition

TreatmentOptions

Phlebotomy;

Avoid alcohol;

PharmOptions

WebLink

https://www.merckmanuals.com/en-ca/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis