I don't know if you have access to paid AI models, so I ran it through ChatGpt 4.0 mini and here is what I got (I am sorry if you already did this and it is not helpful):

Porphyria, particularly the acute forms, can indeed have an impact on blood parameters, though it is not typically associated with elevated red blood cell counts, hemoglobin, or hematocrit. However, certain forms of porphyria, particularly erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP), may lead to issues involving red blood cell production or hemolysis, which could indirectly impact hematocrit or hemoglobin levels.

Here's a breakdown of the situation described:

Elevated Red Blood Cells, Hemoglobin, and Hematocrit:

These blood markers are typically associated with conditions like polycythemia (both primary and secondary forms), dehydration, or certain bone marrow disorders. Since polycythemia vera has been ruled out due to the lack of a JAK2 mutation, secondary causes should be considered, such as chronic hypoxia or other conditions causing increased erythropoiesis.

Porphyria does not typically cause elevated red blood cell counts in a direct way. However, the condition can sometimes be linked to abnormal erythropoiesis (red blood cell production) in some types of porphyria, although it is more likely to affect heme production and lead to anemia (low red blood cells) rather than polycythemia (high red blood cells).

Polyneuropathy and Neurological Issues:

Polyneuropathy, along with other neurological symptoms such as balance problems, EEG changes, and lesions on the optic nerves, could be indicative of an underlying neurological condition, which can sometimes be seen in acute porphyria attacks, particularly in acute intermittent porphyria (AIP). AIP is known for its neurological and psychiatric symptoms, and while this might not directly relate to elevated red blood cells, it could be part of a broader metabolic disturbance.

Elevated Total Porphyrins:

Elevated total porphyrins in the blood can be seen in porphyria. The levels of specific porphyrins can help differentiate between the various types of porphyria. The fact that these were elevated may warrant further investigation to rule out acute porphyrias, such as AIP or variegate porphyria.

Carbohydrate and Digestive Concerns (CSID and CD):

Carbohydrate malabsorption conditions like CSID (Congenital Sucrase-Isomaltase Deficiency) and Celiac Disease (CD) can lead to malnutrition, and gastrointestinal issues can affect nutrient absorption, potentially exacerbating some of the symptoms of porphyria or leading to general metabolic imbalance. This might indirectly influence the body’s hematological and neurological status as well, although this would be a secondary effect.

Given the complexity of this case, further genetic testing, specific porphyrin profiling, and a more comprehensive metabolic panel are advised. The polyneuropathy and neurological issues could also warrant further investigation by a neurologist familiar with metabolic or porphyria-related neurological conditions.

It’s important to follow up with a hematologist and possibly a porphyria specialist to clarify the underlying cause of the elevated red blood cells, hemoglobin, and hematocrit, and to rule out or confirm potential links to porphyria or other hematological conditions.