Hemochromatosis physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; 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 gonads involvements, amenorrhea in pitutary, arthritis in joints invovment.

Physical Examination

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

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

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
Gallbladder Right upper abdominal pain Tender hepatomegaly Multiple blood transfusion leading to hemochromatosis

References

  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. 
  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. 
  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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