Hemochromatosis physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief:
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
- 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
- ↑ 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.