Familial benign copper deficiency is an inherited disorder in which the body does not absorb enough copper from the diet. Copper is an essential mineral that helps the body produce red blood cells, maintain healthy bones and nerves, and absorb iron. People with familial benign copper deficiency may experience anemia, bone abnormalities, and neurological problems. Treatment typically involves taking copper supplements and eating foods that are high in copper.

The symptoms of Familial benign copper deficiency include anemia, neutropenia, and thrombocytopenia. Other symptoms may include fatigue, weakness, pale skin, shortness of breath, and poor appetite. In some cases, neurological symptoms such as ataxia, tremor, and Peripheral neuropathy may also occur.

Familial benign copper deficiency is caused by a genetic mutation in the ATP7A gene, which is responsible for the production of a copper-transporting protein. This mutation prevents the body from absorbing and utilizing copper, leading to a deficiency. Other causes of copper deficiency include malabsorption syndromes, such as celiac disease, and certain medications, such as penicillamine.

1. Dietary supplementation with copper: This involves taking copper supplements in the form of tablets or capsules.

2. Intravenous copper administration: This involves administering copper directly into the bloodstream via an intravenous (IV) line.

3. Copper injections: This involves injecting copper directly into the muscle.

4. Copper-containing foods: Eating foods that are high in copper, such as nuts, seeds, legumes, and organ meats, can help increase copper levels in the body.

5. Avoiding foods that interfere with copper absorption: Certain foods, such as tea, coffee, and wheat bran, can interfere with the absorption of copper. Avoiding these foods can help ensure that the body is able to absorb the copper from dietary sources.

1. Genetic predisposition: Familial benign copper deficiency is caused by a genetic mutation in the ATP7A gene, which is responsible for copper metabolism.

2. Age: The condition is more common in adults, especially those over the age of 40.

3. Gender: Women are more likely to be affected than men.

4. Ethnicity: Familial benign copper deficiency is more common in people of Asian descent.

5. Diet: A diet low in copper-rich foods, such as nuts, legumes, and organ meats, may increase the risk of developing the condition.

There is no cure for familial benign copper deficiency, but there are medications available to help manage the symptoms. These medications include copper supplements, iron supplements, and vitamin B12 supplements. Additionally, dietary changes may be recommended to help manage the symptoms.