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The classic symptoms of untreated diabetes are weight loss, polyuria (increased urination), polydipsia (increased thirst), and polyphagia (increased hunger). Symptoms may develop rapidly (weeks or months) in type 1 DM, while they usually develop much more slowly and may be subtle or absent in type 2 DM.
Several other signs and symptoms can mark the onset of diabetes although they are not specific to the disease. In addition to the known ones above, they include blurry vision, headache, fatigue, slow healing of cuts, and itchy skin. Prolonged high blood glucose can cause glucose absorption in the lens of the eye, which leads to changes in its shape, resulting in vision changes. A number of skin rashes that can occur in diabetes are collectively known as diabetic dermadromes.
Low blood sugar is common in persons with type 1 and type 2 DM. Most cases are mild and are not considered medical emergencies. Effects can range from feelings of unease, sweating, trembling, and increased appetite in mild cases to more serious issues such as confusion, changes in behavior such as aggressiveness, seizures, unconsciousness, and (rarely) permanent brain damage or death in severe cases. Moderate hypoglycemia may easily be mistaken for drunkenness; rapid breathing and sweating, cold, pale skin are characteristic of hypoglycemia but not definitive. Mild to moderate cases are self-treated by eating or drinking something high in sugar. Severe cases can lead to unconsciousness and must be treated with intravenous glucose or injections with glucagon.
People (usually with type 1 DM) may also experience episodes of diabetic ketoacidosis, a metabolic disturbance characterized by nausea, vomiting and abdominal pain, the smell of acetone on the breath, deep breathing known as Kussmaul breathing, and in severe cases a decreased level of consciousness.
A rare but equally severe possibility is hyperosmolar hyperglycemic state, which is more common in type 2 DM and is mainly the result of dehydration.
Excessive urination and extreme thirst and increased fluid intake (especially for cold water and sometimes ice or ice water) are typical for DI. The symptoms of excessive urination and extreme thirst are similar to what is seen in untreated diabetes mellitus, with the distinction that the urine does not contain glucose. Blurred vision is a rarity. Signs of dehydration may also appear in some individuals, since the body cannot conserve much (if any) of the water it takes in.
Extreme urination continues throughout the day and the night. In children, DI can interfere with appetite, eating, weight gain, and growth, as well. They may present with fever, vomiting, or diarrhea. Adults with untreated DI may remain healthy for decades as long as enough water is consumed to offset the urinary losses. However, there is a continuous risk of dehydration and loss of potassium that may lead to hypokalemia.
Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs of diabetes.
Central DI has many possible causes. According to the literature, the principal causes of central DI and their oft-cited approximate frequencies are as follows:
Idiopathic - 30%
Malignant or benign tumors of the brain or pituitary - 25%
Cranial surgery - 20%
Head trauma - 16%
Source: www.ncbi.nlm.nih.gov
Acanthosis nigricans may present with thickened, velvety, relatively darker areas of skin on the neck, armpit and in skin folds.
Malignant acanthosis nigricans refers to acanthosis nigricans occurring as a paraneoplastic syndrome associated with a cancer. Malignant acanthosis nigricans is most commonly associated with gastrointestinal adenocarcinomas, as well as genitourinary cancers such as those of the prostate, breast, and ovary. Other cancers, such as those of the lung, stomach, and lymphoma, are occasionally associated with acanthosis nigricans.
This form of acanthosis nigricans is more likely to involve mucous membranes (25-50% of cases) Malignant acanthosis nigricans that may either precede (18%), accompany (60%), or follow (22%) the onset of an internal cancer. Malignancy-associated acanthosis nigricans is usually rapid in onset and may be accompanied by skin tags, multiple seborrheic keratoses, or tripe palms.
Familial partial lipodystrophy (FPL), also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.
FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.
As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.
AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes. AREDLYD is categorized as a rare disease, meaning it affects fewer than 200,000 people in the American population at any given time.
It was characterized in 1983. A second case was identified in 1992.
A mutations in a number of genes have been associated with this condition. Mutations associated with FPL have been reported in "LMNA" (lamin A/C), "PPARG" (PPARγ), "AKT2" (AKT serine/threonine kinase 2), "PLIN1" (perilipin-1), and "CIDEC" (cell-death-inducing DFFA-like effector B).
Six types (1-6) have been described. Types 1-5 are inherited in an autosomal dominant fashion.
Type 1 (Kobberling variety, FPL1) is very rare and has only been reported in women to date. Fat loss is confined to the limbs and mostly in the distal parts. Central obesity may be present. Complications include hypertension, insulin resistance and hypertriglyceridemia. The gene causing this condition is not yet known. This form was first described in 1975.
Type 2 (Dunnigan Variety, FPL2) is the most common form and is due to mutations in the LMNA gene. Over 500 cases have been reported to date. Development up to puberty is normal. Fat is then gradually lost in is the limbs and trunk. Fat may accumulate around the face and between the shoulder blades. Insulin resistance is common. Other conditions associated with this condition include acanthosis nigricans, fatty liver, hypertriglyceridemia and polycystic ovary syndrome in women. There is an increased risk of coronary heart disease. Cardiomyopathy and muscular dystrophy may occur rarely. Xanthoma and nail changes may occur.
Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date. It is similar to type 2 but tends to be milder.
Type 4 is due to mutations in the PLIN1 gene. It is rare with only a small number of cases reported. Fat loss tends to affect the lower limbs and buttocks. Insulin resistance and hypertriglyceridemia occur. Calf muscular hypertrophy may occur.
Type 5 is due to mutations in the AKT2 gene. It has been reported in four patients all members of the same family. Fat loss affects the upper and lower limbs. The patients also suffered from hypertension, insulin resistance and hypertriglyceridemia.
Type 6 due to mutations in the CIDEC gene. It is inherited in an autosomal recessive fashion and has been reported in only one patient to date. Features included fat loss, severe insulin resistance, fatty liver, acanthosis nigricans and diabetes.
Achard–Thiers syndrome affects mostly postmenopausal women and comprises diabetes mellitus, deep voice, hirsutism or hypertrichosis, clitoral hypertrophy and adrenal cortical hyperplasia or adenoma. Patients often also have amenorrhoea, hypertension and osteoporosis.
There are a number of acquired causes of local gigantism. A body part can attain bigger size from causes as common as the following:
- inflammation, due to trauma or infection
- tumors like osteoid osteoma, melorheostosis, and lipofibromatous hamartoma
- Arteriovenous malformations occurring on a limb, before the closure of epiphyses in long bones
- Elephantiasis, which is quite common in south-east asia due to prevalence of filariasis.
- Still's disease
- amyloidosis
- acromegaly
Congenital causes include:
- Klippel Trenaunay Weber syndrome
- Maffucci syndrome
- macrodystrophia lipomatosa
- neurofibromatosis,
- lipoatrophic diabetes.
- Proteus syndrome, which by one theory accounts for the deformities of the Elephant Man
Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It is also known as diabetic-bearded woman syndrome (diabète des femmes à barbe) and occurs mainly in post-menopausal women.
The disease is named for Emile Achard and Joseph Thiers.