A man presents with weakness, pain in upper abdomen, hyperpignientation, arthritis, hyperglycemia and an enlarged palpable liver. Most probable diagnosis is:
Correct Answer: Haemochromatosis
Description: Ref: Harrison's Principles of Internal Medicine, 18ed.Explanation:HaemochromatosisOrgans commonly affected by haemochromatosis are the liver, heart, and endocrine glands. Haemochromatosis may present with the following clinical syndromes:Cirrhosis of the liverDiabetes due to pancreatic islet cell failureCardiomyopathyArthritis (iron deposition in joints)Testicular failureTanning of the skinJoint pain and bone painAddison's diseaseAlso chronic adrenal insufficiency, hvpocortiso- lism, and hvpoadrenalism) is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones (glucocorticoids and often mineralocorticoids).The symptoms of Addison's disease develop insidiouslyFatigue, LightheadednessMuscle weaknessFeverWeight lossAnxietyNausea, vomitingDiarrheaHeadacheSweatingChanges in mood and personalityJoint and muscle painsMarked cravings for salt or salty foods due to the urinary losses of sodiumIncreased tanning in sun-exposed areasDarkening of the palmar creases, sites of friction, recent scars, the vermilion border of the lips, and genital skin.Clinical signsLow blood pressure that falls further when standing iOrthostatic Hypotension)Most people with primary Addison's have darkening (hyperpignientation) of the skin, including areas not exposed to the sunCharacteristic sites are:Skin creases of the handsNippleInside of the cheek (buccal mucosa)Old scars may darken.This occurs because melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH) share the same precursor molecule, proopiomelanocortin (POMC).After production in anterior pituitary gland. POMC gets cleaved into gamma-MSH. ACTH and beta-lipotropin.The subunit ACTH undergoes further cleavage to produce 'alpha-MSH', the most important MSH for skin pigmentation.Associated withType I diabetesThyroid disease (Hashimoto's thyroiditis and goiter)VitiligoAutoimmune polyendocrine syndromeThe occurrence of Addison's disease in someone who also has Hashimoto's thyroiditis is called Schmidt syndrome.Addisonian crisis (Adrenal crisis)Constellation of symptoms due to severe adrenal insufficiency.It is a medical emergency and potentially life- threateningCharacteristic symptoms are:Sudden penetrating pain in the legs, lower back or abdomenSevere vomiting and diarrhea, resulting in dehydrationHypotensionSyncopeHypoglycemiaConfusion, psychosis, slurred speechHyponatremiaHyperkalemia HypercalcemiaConvulsionsFever
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