Hemochromatosis physical examination

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
Nervous system	CNS	Abnormal gait Dementia	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) Proximal interphalangeal wrist knee	Pain Stiffness Arthritis 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 Splenomegaly Cutaneous stigmata of chronic liver disease	Deposition of iron in liver
Gastrointestinal	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.

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[Jones_1983-1] 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_2004-2] 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_1995-3] 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.

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