Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Hemochromatosis physical examination
Introduction
Overview
Overview
Physical examination of hemochromatosis disease depends on the involved organ are: fatigue in heart failure, erectile dysfunction and hypogonadism in gonadal involvements, amenorrhea in pitutary, arthritis in joints involvement.
Physical Examination
Physical Examination
- Erectile dysfunction and hypogonadism
- Congestive heart failure, arrhythmias or pericarditis
- Deafness[1]
- Dyskinesias, including Parkinsonian symptoms[2][1][3]
- Dysfunction of certain endocrine organs:
- Pancreatic gland, as above, manifesting as diabetes (from endocrine dysfunction) or indigestion (from exocrine dysfunction)
- Adrenal gland (leading to adrenal insufficiency)
- Parathyroid gland (leading to hypocalcaemia)
- Pituitary gland
- Testes or ovary (leading to hypogonadism)
- A darkish color to the skin (see pigmentation, hence its name Diabete bronze )
Males are usually diagnosed after their forties, and women about a decade later, owing to regular iron loss by menstruation (which ceases in menopause). Cases of iron overload have been found in young children as well.
| System involved | Organs | Symptom | Signs | Mechanisum |
|---|---|---|---|---|
| Nervous system | PNS | Parastheisa
Loss of motor control |
Loss of two point discrimination
Hyporeflaxia decreased power |
Axonal sensory motor polyneuropathy |
| CNS | Abnormal gait | Dyskinesias(Parkinsonian syndrome Multiple sclerosis)
Cognitive decline |
Deposition of iron in basal ganglia | |
| Endocrine | Pituitary gland | Menstrual abnormality
Loss of libido Loss of body hair |
Amenorrhea
Erictle dysfuntion |
Deposition of iron in pituitary gland |
| Thyroid gland | Fatigue | Signs of hypothyroidism | Deposition of iron in thyroid gland | |
| Pancreas | Polyuria polydipsia polyphagia | Polyuria, polydipsia, polyphagia | Deposition of iron in pancreas | |
| Adrenal gland | Fatigue | Polyuria, Hypotension | Deposition of iron in adrenal gland | |
| Dermatological | Skin | Cutaneous hyperpigmentation | Sun exposed affected mostly with tan of melanin grey
Porphyria cutanea tarda |
Iron damage skin, melanin hyperactivity responds thus color of melanin |
| Joints | Metacarpophalangeal (especially 2nd and 3rd MCP joints) | Pain
Joint swelling |
Decreased ROM
Stiffness improve with rest |
Deposition of iron in articular cartilage
Chondrocalcinosis |
| Cardiovascular | Heart
Blood vessels |
Asymptomatic
Heart failure palpitation Hypertension |
Diastolic dysfunction
Arrhythmias Dilated cardiomyopathy |
Deposition of iron in cardiac tissue and blood vessels |
| Gastrointestinal | Liver | Fatigue
Fatty diarrhea Itching Jaundice Weight loss |
Hepatomegaly
Liver failure (ascites, encephalopathy) Liver cancer Cutaneous stigmata of chronic liver disease |
Deposition of iron in liver |
| Gallbladder | Right upper abdominal pain | Tender hepatomegaly | Multiple blood transfusion leading to hemochromatosis |
References
References
- ↑ 1.0 1.1 Jones H, Hedley-Whyte E (1983). “Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs”. Neurology. 33 (11): 1479–83. PMID 6685241.
- ↑ Costello D, Walsh S, Harrington H, Walsh C (2004). “Concurrent hereditary haemochromatosis and idiopathic Parkinson’s disease: a case report series”. J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.
- ↑ Nielsen J, Jensen L, Krabbe K (1995). “Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome”. J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: